Mira Tadimalla 

Period 4A 
Annotated Source List  

Date In-Text Citation (APA/MLA) Key Term/Idea Type of Source

9/27/19 (University of California San ALS Background Information Information article

Francisco, n.d.)

9/27/19 (Scutti, 2016) ALS Stem Cell Research News article

10/5/19 (Gulli & Fallon, 2015) Extensive background Database article

information

10/5/19 (Mozes, n.d.) Psychological effects of ALS on News article

patients and caregivers

10/11/19 (Brody, 2017) New drugs and studies being News Article
done on ALS

10/11/19 (Motor Neuron Diseases Fact In-depth information on aspects Information Article
ALS
Sheet, 2019)

10/17/19 (Duffy, 2016) Recent developments in Online Article

research

10/17/19 (Johns Hopkins Medicine, 2018) New scientific findings Video

10/24/19 (Meoded et al., 2013) A study was done on the Journal

cognitive effects of ALS

10/24/19 (New Amyotrophic Lateral New ALS clinical research Newsletter

guidelines in effect
Sclerosis Data, 2019)
11/1/19 (Prell et al., 2019) Effect of emotional well-being Journal
on ALS progression

11/1/19 (ALS Association, n.d.) Behavioral and cognitive Fact sheet article
changes in patients that can be
identified

11/8/19 (Early diagnosis of ALS benefits Explanation of the benefits of Article

early diagnosis and new
patients, 2016) developments regarding it

11/8/19 (Blijham et al, 2007) A study involving using MFCV Journal abstract
to determine muscle denervation
in patients with potential ALS to
confirm a diagnosis

11/15/19 (Gordon, 2013) In-depth background on ALS Journal

diagnosis and treatment

11/15/19 (Wang et al, 2016) A new study on how speech Journal

articulation and patterns can be
used to improve the diagnosis
process for ALS

11/21/19 (Fang et al, 2009) Study on how occupation and Journal

exposure increases the risk of
ALS

11/21/19 (Rachakonda et al, 2004) ALS biomarkers and Journal

information on biomarker
research in general

12/5/19 (Lee Health, 2012) Information on the diagnosis Video

process

12/5/19 (Nzwalo et al. 2014) Study on what causes late Journal

diagnosis in ALS
12/12/19 (Belsh, 2000) Describes criteria for diagnosing Journal abstract
ALS and flaws or obstructions
regarding it

12/12/19 (Cudkowicz et al., 2004) Describes, in detail, various Journal

techniques used to measure ALS
and determine markers of it

12/19/19 (Lights et al., 2016) Medications and specialists for Magazine article
ALS

12/19/19 (Vucic et al., 2011) Differentiating ALS from Journal study

similar diseases through testing

1/2/20 (Rothstein, 2020) Interview with a head researcher Interview

at Hopkins and Answer ALS

1/2/20 (Rymore, 2013) Multiple aspects of ALS and Book

guide for caregivers and
information for patients

1/9/20 (Vejux et al. 2018) ALS biomarkers Journal article

1/9/20 (Osama et al., 2018) ALS Treatments, aspects that Journal

influence the outcome, recent
findings

1/17/20 (Wang, 2020) ALS research correlating with Interview

speech and data

1/17/20 (Baxi, 2020) ALS expertise from research Interview

and Answer ALS data/clinical
trials
ALS. (n.d.). Retrieved September 27, 2019, from UCSF Health website:

https://www.ucsfhealth.org/conditions/als/

Summary

This ​website​ describes the general signs, symptoms, treatments, and diagnosis methods for ALS

(Amyotrophic lateral sclerosis). It is also called Lou Gehrig’s disease after a Yankee’s first

basemen who developed the disease and could no longer play baseball. ALS is the most common

motor neuron disease amongst adults and in the U.S. about 5,000 people per year are diagnosed

with it. The disease progressively destroys the nerve cells that control movement and eventually

affects the respiratory system, which is mainly what causes the death of ALS patients. ALS

occurs more often in 40-60-year-olds and men, and family history does not affect the chances of

developing or not developing the disease. ALS is very difficult to diagnose because symptoms

are frequently misinterpreted and there are no tests that definitively confirm. Because no cure or

fully effective treatment is available, most patients are given medications to cope with symptoms

such as pain, and Riluzole is a medication used to slow the disease, but it can be ineffective in

some people. Through the progression of the disease, all muscles are we​akened until reaching a

state of paralysis. However, senses are not affected by the disease, and those affected have

complete awareness ​(University of California San Francisco, n.d.).

Application to research

This article was very useful in terms of background information but does not go into details of

how the disease is caused or how the nerves are affected in a scientific aspect. They do give

helpful information about how testing and treatment are done with ALS patients which helps me

understand some of the problems with the diagnosis and treatment process.
ALS Association. (n.d.). Cognitive and behavioral changes in ALS: A guide for people with ALS

and their families. Retrieved November 1, 2019, from ALS Association website:

http://www.alsa.org/als-care/resources/publications-videos/factsheets/cognitive-changes-f

amily.html

Summary:

This article is essentially a fact sheet on the cognitive and behavioral changes involved in ALS.

A while ago scientists believed ALS only affected the physical body functions but that is now

known to be incorrect. Much or ALS treatment has been focused on the physical but in the last

decade cognitive and behavioral symptoms have been increasingly recognized. The presentation

of physical and mental changes varies from person to person but research suggests about 50% of

diagnosed ALS patients experience some degree of thinking or behavioral change and about 25%

of those people will develop dementia. The difference between impairment and dementia is that

in impairment the person acts in a way different than how they have always been but can still

complete activities and think through/make decisions as they normally do. Dementia is when the

person acts in a different way and cannot complete activities or think through/make decisions as

they normally do. The source lists many behavioral changes and what they look like such as;

Person seems to have lost “a filter” with regard to making comments or expressing opinions,

Fixation on a single idea or activity with a need to repeat the concern or repeat the activity,

Difficulty remembering what he/she intends to do, etc. Some potential risk factors for cognitive

and behavioral impairment with ALS are ​Although older age, bulbar onset disease, family

history of dementia, and pre-ALS neurologic injury. The only risk factor that has been
documented consistently is the abnormal repeats of the C9 gene. Data shows that ALS patients

with impairment have a shorter lifespan than those without it.

Application to research

This source contributes a lot of information I did not previously know relating to my specific

topic of behavioral and cognitive changes in ALS. The information given answered my questions

about the actual changes, how they affect the diagnosis/prognosis, and what causes them. I

would like to look more into the scientific aspects of what causes the changes soon.

Baxi, E. (2020, January 18). [Telephone interview by the author].

Summary

This was an interview with Dr. Emily Baxi from Johns Hopkins who works with the head of

ALS at Johns Hopkins and with a nationwide, leading ALS program called Answer ALS. She

does research on ALS in many aspects, working with data and with patients as part of the more

clinical side of ALS research. In the interview, we discussed the quality of life as a result of early

diagnosis, most beneficial treatment methods, the genetic fact in ALS, the effect of early

diagnosis on cognitive impairment, psychological effects of ALS, the increase in cases of ALS,

and the utilization of artificial intelligence with ALS research or diagnosis. The interviewee

stated that quality of life for ALS patients has multiple factors, but it will improve once there is a

truly effective treatment method so make the time effective. She also stated that the C90RF

genetic mutation that was discovered in recent years and the SOD1 gene discovered in the 1990s

has allowed for a leap in new developments in the area of familial ALS (FALS). She also

included that many view environment as a potential factor in ALS but it is really quite minimal.

Application to research
This interview was incredibly helpful towards my research because it gives me firsthand

information from someone doing research in the field and their opinion and knowledge on what

the problem is and ways they believe it can be resolved. She gave insights on what future

research may look like as well and what they hope to accomplish at Hopkins and Answer ALS.

Belsh, J. M. (2000). ALS diagnostic criteria of El Escorial revisited: Do they meet the needs of

clinicians as well as researchers?[Abstract]. ​Amyotrophic lateral sclerosis and other

motor neuron disorders​, ​1​(sup1), S57-S60.

Summary:

This ​abstract​ is about the el escorial criteria for diagnosing ALS and the potential lack of

sufficiency for clinician use. The El Escorial criteria which were revised in 1998 has been in use

for over a decade and offer guidelines used in standardizing diagnostic criteria for entry into

research trials and it is believed that El Escorial Revisited (the 1998 version) will help to

liberalize entry requirements for trials. General neurologists and neuromuscular clinicians have

found El Escorial to be somewhat unhelpful in developing an earlier and accurate diagnosis. The

revised document may help lessen these problems but more “user-friendly” criteria may be

needed for non-researchers. Such criteria would improve the grouping of ALS patients, increase

freedom in beginning treatment for patients, and would improve the differentiation of ALS from

other neuron diseases for medical practitioners. Physician education will improve earlier patient

referral and diagnosis overall. Regarding difficult cases, earlier diagnosis is harder to achieve

until we improve research in the fields of electrodiagnosis, neuroimaging, immunochemistry, and

neurogenetics

Application to research
This abstract is helpful for my research because it describes the criteria used for admitting

patients into clinical trials and used to improve early diagnosis and how it may be currently

flawed in benefiting medical professionals in doing their job effectively. This is an area of

research I have not previously explored and I wanted to find more on the guidelines regarding

diagnosis, which is mainly El Escorial.

Blijham, P. J., Schelhaas, H. J., Ter Laak, H. J., Van Engelen, B. G.M., & Zwarts, M. J. (2007).

Early diagnosis of ALS: The search for signs of denervation in clinically normal muscles.

Journal of the Neurological Sciences,​ ​236(​ 1). Abstract retrieved from

https://www.sciencedirect.com/science/article/abs/pii/S0022510X07004753

Summary:

This​ journal abstract​ involved a study that investigated whether an early diagnosis of ALS

could be reached by detecting signs of denervation in a muscle of an unaffected region of the

body. Within the study, muscle fiber conduction velocity (MFCV) was found in 18 patients with

possible ALS, but not confirmed beyond the level of possibility. Neurological changes were

detected in a sample of muscle from a muscle biopsy. The results were analyzed and the patients

were followed up with after 16 months. At that point, 9 patients had developed probable or

definite ALS. Abnormal MFCV in relation to developing ALS was 89%. The biopsies showed

that the abnormal MFCV was due to denervation of the muscle. Thus MFCV can be used to

detect denervation in muscles that do not initially show signs of motor neuron disease. This can

contribute to reaching a diagnosis for ALS in earlier stages of the progression.

Application to research
This journal abstract, though somewhat short, gave me insightful information into a different

method of developing an earlier diagnosis for ALS. I had not previously found information on

MCFV or studies involving it in relation to muscle denervation or early detection of ALS. This

gave me ideas on how to research more on this specific topic and find similar data.

Brody, J. E. (2017, May 29). A new drug for A.L.S., but the diagnosis remains dire image.

Retrieved October 12, 2019, from New York Times website:

https://www.nytimes.com/2017/05/29/well/a-new-drug-for-als-but-the-diagnosis-remains

-dire.html

Summary

This ​news article ​initially talks about a neighbor of the author that has ALS which is how she

found interest in it. She discusses how early symptoms of ALS are overlooked and attributed to

other minor issues such as lack of sleep, poor diet, etc. Damage can start long before the

symptoms become apparent, which is why there is already a large progression at the point of

actual diagnosis as a third of motor neurons are destroyed before signs of muscle loss. In the

majority of patients, muscle weakness first occurs in the arms and legs, and for some in the face

and throat. About 95 percent of patients have an unidentified cause, and the other 5 percent have

inherited from parents with a gene mutation. A recent study in JAMA Neurology by researchers

from Methodist Neurological Institute indicates that​ modifying certain abnormal immune cells

inflammation may be reduced which may be helpful to patients, especially if the treatment could

be applied early on. Another recent study by Stanford University School of Medicine suggests

that suppressing a protein called ataxin-2 may create resistance to ALS. An enzyme called

RIPK1 also behaves abnormally and disrupts the production of the myelin sheath that insulates
axons. In a Harvard study, a substance called necrostatin-1 restored the myelin sheath and

stopped axon damage in mice. Two drugs are currently approved to treat ALS, Rilutek (riluzole)

and Radicava (edaravone) which was approved in early 2017. Potential risk factors of ALS

include brain injury and exposure to toxic substances, and risk is higher among military veterans,

athletes taking certain dietary supplements, and football players.

Application to research

The article is the first to identify a second drug used in the treatment of ALS which was helpful,

and it also gave more information and reasoning for the late diagnosis of ALS and affects overall

of late diagnosis. It cites many studies involving new developments in ALS research aside from

stem cell therapy, for which I have seen the most research on so far. It also identifies other risk

factors and statistics of ALS. After reading this source I would like to learn more about the other

research being done and the earliest identifiers of ALS.

Cudkowicz, M., Qureshi, M., & Shefner, J. (2004). Measures and markers in amyotrophic lateral

sclerosis. ​NeuroRx : the journal of the American Society for Experimental

NeuroTherapeutics,​ ​1(​ 2), 273–283. doi:10.1602/neurorx.1.2.273

Summary: ​This journal provides information overall on measures and markers in ALS and how

different techniques are used to determine these. There are over 100 mutations in the SOD1 gene

that have been associated with familial ALS. A study reported that a slowly progressive,

bulbar-predominant form of lower motor neuropathy arises from mutations in a dynactin gene,23

confirming the principle that motor protein defects can progressively impair motor neuron

function. 24 New loci in dominant ALS have been reported on the X-chromosome 25 and other

chromosomes. Muscle strength is a relevant measure of disease progression in ALS. There are
multiple methods of varying advancement used to measure muscle strength. Although nerve

conduction studies and needle EMG are essential for confirming lower motor neuron

involvement in the initial diagnosis of motor neuron disease, they do not allow accurate

measurement of motor neuron loss and reinnervation. Motor nerve conduction velocity remains

normal until later in the disease, and compound motor action potential amplitude does not go

down until >50% of axons have been lost. Motor unit number estimation (MUNE) measures the

number of surviving motor neurons in the living human. Potentially, lower motor neuron dropout

in ALS is a process suited for evaluation by MUNE. The loss of motor units and the functional

adaptation of increasing motor unit size can be estimated and the process is noninvasive,

tolerated well, and fairly quick to do. In correlation with data showing that muscle strength

declines steadily in ALS during most of the course of the disease studies suggest that the early

decline in motor unit numbers is balanced out by increases in individual motor unit force.

Variations in several genes relating to motor neurons have been considered as possible risk

factors for ALS.

Application to research

This source applies to my research because it has in-depth research on techniques used to

measure the progression of ALS and how markers are identified. It offers images of test results

in correlation with the explanation and is unique to the other more general research I have found

on indicators or markers of ALS.

Duffy, J. (2016). An answer to ALS? Retrieved October 15, 2019, from Johns Hopkins Medicine

website:
 https://www.hopkinsmedicine.org/news/publications/hopkins_medicine_magazine/featur

es/winter-2016/an-answer-to-als

Summary

This ​article​ is about the recent advances in ALS research as well as the history of ALS and how

it has developed, research-wise, over the years. It discusses the cases of multiple ALS patients

and trials that happened in the 1990s that identified a gene mutation of the gene SOD1 which is

associated with ALS, though a very small amount of ALS patients have a genetic cause. The

majority of ALS cases are sporadic with no known cause which explains the difficulty of

devising a cure. A new program called Answer ALS founded by multiple ALS researchers aims

to create the most comprehensive database of ALS research and speed up the research process. A

Japanese researcher displayed in 2007 how adult skin cells can be converted back into stem cells

which can be reprogrammed into other cell types and functions. His advance gained him a Nobel

prize in medicine. However, in ALS it is different because ​induced pluripotent stem (IPS) cells

are used instead as a supply of motor neurons to be used in a lab as a genetic match for all brain

cells. This is necessary because for ALS taking a biopsy of brain tissue can cause serious

consequences such as epilepsy, memory loss, or paralysis. In 2011 two groups of researchers

announced the discovery of the gene mutation in gene C9ORF72 (or C9) that is involved in

about a third of ALS cases which is unprecedented. This mutation is also present in a third of

frontotemporal dementia cases. The C9 mutation occurs in the spliced part of the gene called an

intron making it abnormal. The mutation is present at birth but presents the disease with aging

which remains a mystery to scientists. Certain research also pointed out a protein called RanGAP

that had to do with the development of the issue. When pieces of RNA called oligonucleotides
were inserted into cells with the mutation they seemed to deactivate the issues with the introns.

Answer ALS hopes to provide large developments in ALS in the coming years.

Application to research

This article offered extensive details about the history of ALS and past developments which in

turn contribute to more recent developments and what research will look like in the future. It

offered more insight into some of the causes of ALS which contributed to late diagnosis and

appearance of the disease. The details about proteins and genetic mutations are things I have not

yet been able to research further so they were very interesting and helpful.

Early diagnosis of ALS benefits patients, research. (2016, January 27). Retrieved November 6,

2019, from Barrow Neurological Institute website:

https://www.barrowneuro.org/in-the-news/early-diagnosis-of-als-benefits-patients-researc

h/

Summary:

This ​article​ highlights the importance of early diagnosis for amyotrophic lateral sclerosis

because, though there is currently no cure, early diagnosis is extremely important for clinical

trials to be done with patients in the early stages of the disease. Care early on by specialists has

been shown to prolong survival while improving the patient’s quality of life. The goal of quality

of life is to allow patients to lead the most normal and comfortable life possible and allowing

them to maintain as much independence as possible. Dr. Ladha is the director of the Gregory W.

Fulton ALS and Neuromuscular Disease Center and coordinates care, clinical trials, and optional

scientific research for the patients in the center. The necessary care in the center is provided by
physical, occupational, speech, and respiratory therapists, neurologists, a social worker, and a

nutritionist. All of these forms of care contribute to establishing a good quality of life. Part of the

difficulty with diagnosing ALS is the variation in symptoms and disease progression. A

neurologist Dr. Jeremy Shefner focuses his research on biomarker development for ALS and

clinical therapy. He states that muscle weakness is usually not very alarming initially for older

people so they ignore it and don’t see a doctor when they should. Often the disease is

misdiagnosed as something minor with the same symptoms because it does not have an easily

recognizable pattern. Patients with familial ALS can be diagnosed before symptoms are seen

through gene testing especially a test that looks for a specific mutation that has been seen

repeatedly. Some people avoid being tested because they don’t want to know if they have the

disease. Dr. Shefner is a part of one of the only phase three ALS studies worldwide and the drug

in the study targets muscles as opposed to nerves increasing the efficiency of muscle contractions

allowing longer function and possibly increase survival. It especially helps muscles to breathe

which is important as respiratory failure is one of the number one causes of death with A​LS.

Application to research

This information applies and contributes to my research question because it gives ways that early

diagnosis can improve the chances of treatment and quality of life. The new drug being tested

would also improve the quality of life and treatment and the article gives some scientific

background on how. Overall it is helpful for finding smaller subtopics within my research

question to research.
Fang, F., Quinlan, P., Ye, W., Barber, M. K., Umbach, D. M., Sandler, D. P., & Kamel, F.

(2009). Workplace exposures and the risk of amyotrophic lateral sclerosis. ​Environmental

Health Perspectives​, ​117​(9). https://doi.org/10.1289/ehp.0900580

Summary:

This ​journal​ aimed to analyze the relationship ​between workplace exposure and the risk of ALS

and the possibility of smoking when combined with exposure, being a factor as well. ​There has

been evidence to suggest that occupation and exposure play a role in ALS but a strongly

supported conclusion on the theory has not been provided. A study was conducted in New

England between 1993 and 1996 composed of many cases and controls involving thorough

research on each case and control’s occupation and exposures. Analyses’ were conducted on the

whole study population and it was observed in the results that there was a ​higher risk of ALS for

construction workers (excluding supervisors) and precision metalworkers. There were reported

exposures to paint strippers, cutting, cooling, or lubricating oils, antifreeze or coolants, mineral

or white spirits, and dry cleaning agents, which each appeared to be associated with a 60–90%

higher risk. Other chemicals reported were associated with a greater than 50% increase in the

risk of ALS. The relative risks associated with these exposures and chemicals were greater

among nonsmokers. In general, the results indicate that that certain occupations and workplace

exposures may be associated with an increased risk of ALS.

Application to research

This source applies to my research question because I am researching causes of ALS and how to

improve diagnosis and understanding or knowing the risk factors for ALS can help determine if
something is ALS when combined with other factors. Also, workplace exposure to certain things

and their potential to increase the risk of ALS is a part of the cause of ALS as a whole.

Gordon P. H. (2013). Amyotrophic Lateral Sclerosis: an update for 2013 clinical features,

pathophysiology, management and therapeutic Trials. ​Aging and disease,​ ​4(​ 5), 295–310.

doi:10.14336/AD.2013.0400295

Summary

This ​journal​ goes over ​Clinical displays of ideas and theories involved in ALS, disease

mechanisms, approaches to patient care and design of clinical trials for ALS, giving an overview

of the current understanding of the disease, and the journal concludes with a section on future

directions.​ It also offers background on ALS in thorough detail and describes the history of the

disease, rates in affected populations, and the science of the disease progression in terms of how

neurons change. In ALS, similarly to other neurodegenerative diseases, aggregation of misfolded

proteins damages neurons and this can affect other proteins which could explain how it starts in

one area of the brain and rapidly spreads. The journal defines many treatment methods,

influencers, and survival extending methods for ALS. ​An extensive aspect of care for ALS once

the disease has progressed is ventilatory support for respiration. Multi-disciplinary clinics and

non-invasive ventilation for patients with respiratory failure appear to improve the outcome

modestly. Multiple disciplines of care for ALS patients are explained such as speech therapy,

psychology, physical therapy, occupational therapy. The information most relevant to my topic is

the focus on clinical features and diagnosis. The sections explains how the loss of lower motor

neurons (LMN) causes fasciculation, cramps, muscle atrophy and weakness, which is often more

disabling for patients than the spasticity, hyperreflexia and modest weakness associated with
upper motor neuron (UMN) disease. ALS is also clinically heterogeneous among family

members harboring the same gene mutation. A single etiology can lead to a variety of clinical

syndromes. Some of the earliest more identifiable symptoms of ALS are foot drop, difficulty

walking, loss of hand dexterity or weakness when lifting the arms. For another, more severe,

version of ALS called Bulbar-onset ALS the first symptom is usually dysarthria followed by

dysphagia, which may progress to sialorrhea, malnutrition, and anarthria. The diagnosis for ALS

is about accurate 95% of the time when made by an experienced clinician. Electromyography is a

type of screening that confirms widespread LMN disease and excludes other diseases such as

multifocal motor neuropathy with conduction block. Brain and spinal MRI rule out conditions

that affect the UMN, including cervical spondylosis. Occasionally the brain MRI shows bilateral

signal changes within the corticospinal tracts which is indicative of ALS.

Application to research

This information is very useful because it thoroughly details all the treatments for the many

aspects of ALS that are used to improve the quality of life and survival. Testing used to diagnose

ALS and the variations in the accuracy that are seen or the variation in the way the disease

displays itself are also shown. This is very relevant to my topic and allows me to learn more

information specific to diagnosis, survival, and improvement of quality of life.

Gulli, L. F., & Fallon, L. F. (2015). Amyotrophic Lateral Sclerosis. In J. L. Longe (Ed.), ​The

Gale Encyclopedia of Medicine​ (5th ed., Vol. 1, pp. 214-218). Farmington Hills, MI: Gale.

Retrieved from ƒ

Summary
This ​article​ details ALS demographics, causes and effects, how it is diagnosed, the treatment

process, the prognosis, and a description. About 5,000 Americans are diagnosed with ALS per

year and globally it is the most common neuromuscular disease. As the disease progresses,

nerves from the brain extending to the spinal cord nerve increasingly degenerate and die. The

reasons why are for the most part unknown. The rapid progression of paralyzation often has

psychological effects on the patient and their family. There are multiple other diseases that

resemble ALS, so doctors must rule them out using various tests to confirm a diagnosis. A drug

called Riluzole has been shown to slow the progression of ALS by a few months. Also, lifestyle

after diagnosis does affect the outcome slightly, but the treatments currently available are not

significantly effective. ALS is usually fatal within 2-5 years after diagnosis, though about 10%

live longer. Cause of death is most commonly respiratory infection (Gulli, 2015).

Application to research

This article offers helpful diagrams and definitions of complex words involved in the explanation

of the disease that improved my understanding of the scientific aspect of it. It is also very

thorough in explaining each aspect of ALS and went more in-depth about testing for a diagnosis

and treatment plans for patients aside from drugs. It is also the only article thus far that has

mentioned the psychological effects of ALS which is something I want to look into more.

Johns Hopkins Medicine. (2018, May 15). ​New findings in ALS could lead to treatments that

slow down disease​ [Audio file]. Retrieved from

https://www.youtube.com/watch?v=vaHsG0X0A5s

Summary
This ​video ​from Johns Hopkins details the more recent research being done between collective

institutes and how models and imaging have shown that the transport in and out of the nucleus in

ALS patients gets more problematic over time which partly contributes to the working of the

disease. A nucleus has a nuclear pore complex (NPC) made of 500 proteins and each nuclear

pore complex is made up of individual proteins called nucleoporins. The nuclear pore regulates

the materials going in and out of the nucleus. Defects in nuclear transport have shown to be an

issue involved in multiple diseases, one being ALS, and one reason the process is not really

working is because of stress granules forming. The proteins in an NPC are dynamic and during

the movement, through the NPC the stress granules that have formed are sequestering the

proteins, and they cannot go back into the nuclear pore. Minimizing or stopping stress granules

and their formation could prevent the issue caused to the nuclear pores. A specific protein called

Ataxin-2 being removed helps mitigate the stress granules and showed a slowing of ALS in

animals during research. Currently, oligonucleotides are being formed that can block this specific

protein to prevent the formation of stress granules. The researchers believe that using drugs to

block the formation of stress granules will help slow the progression of ALS.

Application to research

The video was very helpful and gave insight into new research findings in ALS and explained

thoroughly the working on nucleus transport and how it is different in those with ALS. The path

of new research developments seems like something I want to pursue more. The scientific aspect

is very interesting as well and I would like to see how scientists use the data collected in studies

to pursue an effective treatment or earlier diagnosis method.

Lee Health. (2012, July 27). ​Diagnosing ALS​ [Video file]. Retrieved from

https://www.youtube.com/watch?v=-jaGHtJjAIg

Summary:

This ​youtube video​ describes the diagnosis process for ALS and the different testing used in this

process. Often the first symptoms of ALS are foot drop or hand weakness and these early

symptoms are present for a fairly long period of time, often times a year, as the disease

accelerates with no diagnosis due to not having seen a specialist or due to waiting for more signs

and symptoms to better evaluate what the disease is. Diagnosis is a combination of clinical

presentation of ALS and electromyography, which is nerve and muscle testing that measures

muscle response or electrical activity in response to a nerve's stimulation of the muscle. The test

is used to help detect neuromuscular abnormalities and is done by inserting one or more small

needles through the skin and into the muscle. Another​ form of testing such as MRIs of the spine

and other body parts are done to exclude conditions or diseases that may mimic ALS. The sooner

a diagnosis is identified the better the relief and the easier it is to find an approach to relief for

the patient to improve quality of life.

Application to research

This video applies to my research because it gives me an explanation of electromyography and a

sort of timeline of the process of diagnosing. It also tells me the thought process that goes along

with determining whether something is ALS or a disease that is similarly exhibited.

Lights & Boskey. (2016, January 27). ALS (Lou Gehrig's Disease). Retrieved from

https://www.healthline.com/health/amyotrophic-lateral-sclerosis#treatment

Summary
This magazine ​article​ offers information about the causes of ALS, its frequency in occurrence,

symptoms, cognitive effects, diagnosis methods, treatment methods, complications, and outlook.

It describes factors believed to contribute to ALS (free radical damage, an immune response that

targets motor neurons, imbalances in chemical messenger glutamate, and buildup of abnormal

proteins inside nerve cells). Specialists that may be involved in the diagnosis and treatment of

ALS are; a neurologist who is skilled in the management of ALS a physiatrist, a nutritionist, a

gastroenterologist, an occupational therapist, a respiratory therapist, a speech therapist, a social

worker, a mental health professional, and a pastoral care provider. Since familial ALS (FALS)

makes up roughly 10% of cases, some treatments being explored for a subtype of FALS are

coenzyme Q10, COX-2 inhibitors, creatine, and minocycline.

Application to research

This article suggests treatments/medications specifically for hereditary ALS which I have not

seen elsewhere thus far. It also describes the many specialists potentially necessary in the

diagnosis and treatment of ALS which is helpful in learning about diagnosis and treatment and

what they may involve.

Meoded A, Kwan J, Y, Peters T, L, Huey E, D, Danielian L, E, Wiggs E, Morrissette A, Wu T,

Russell J, W, Bayat E, Grafman J, Floeter M, K, 2013: Imaging findings associated with

cognitive performance in primary lateral sclerosis and amyotrophic lateral sclerosis.

Dement Geriatr Cogn Disord Extra 2​ 013;3:233-250. doi: 10.1159/000353456

Summary

This ​journal​ describes studies done by scientists with the goal of comparing cognitive effects

between ALS and PLS, exploring the relationship between cognitive performance and advanced
brain imaging(DTI) that displays and identifies hidden brain injury(through ​metrics of white

matter tracts and gray matter volumes)​ and comparing this DTI imaging between patients with

and without cognitive or behavioral effects. It describes executive function effects. Executive

dysfunction occurs in many ALS patients where high-level cognitive functions such as emotional

control, thinking, impulse control, organization, etc. are not fully functional. The study

conducted within this journal administered behavior and mood scales to 25 ALS patients and 25

PLS patients. MRIs were done of 13 ALS patients and 17 healthy controls. The results were

analyzed using advanced MRI software. The results were that more ALS than PLS patients had

abnormalities and reduced gray matter in imaging was not associated with cognitive

performance. The scientists concluded that ​changes in diffusion metrics of white matter long

association tracts suggest that the loss of connection between areas of the brain such as the

frontotemporal area to parietal or occipital areas, contributes to impairment of cognitive abilities.

Application to research

This journal offers information on the mental effects of ALS and even compares it to a similar

disease. Some of my research areas of interest are the cognitive and psychological effects of

ALS, and this gives some scientific background on those effects and what may cause them.

Motor neuron diseases fact sheet. (2019, August 13). Retrieved October 12, 2019, from National

Institute of Neurological Disorders and Stroke website:

https://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Motor-Ne

uron-Diseases-Fact-Sheet

Summary
This​ informative article ​delves into the more general category of motor neuron diseases, in

which ALS is the most common. The article defines motor neuron disease and the function of

motor neurons. The article also identifies the risk groups, potential causes of MNDs, the

classification of MNDs, the symptoms, diagnosis, treatments, prognosis, and the research being

done. The causes of most MNDs are mostly unknown. Some are inherited and some are sporadic

or inherited. In the latter environmental, toxic, or genetic factors may be involved. The diseases

are classified as sporadic or inherited, and whether they affect the upper or lower motor neurons.

This section describes some different MNDs and how they may be inherited. The article

identifies the symptoms of any of the main MNDs and the statistics of each disease. Some of the

diseases are ALS, progressive bulbar palsy, pseudobulbar palsy, primary lateral sclerosis, etc.

The explanation of how MNDs are diagnosed is extensively describing the many forms of

testing, such as ​electromyography (EMG), in-depth neurological exams, lab testing, Magnetic

resonance imaging(MRI), nerve biopsy, and Transcranial magnetic stimulation. There is

currently no cure or standard treatment method for MNDs, but various treatments and drugs are

being explored as well as physical therapy and rehabilitation methods. The prognosis of many

diseases varies, for example, Kennedy’s disease is not fatal. and has a slow progression whereas

ALS is quite the opposite. The different types of research currently being done are drug

interventions, stem cells, and gene therapy to find a treatment or cure for different MNDs.

Application to research to Summary

The article is very in-depth and thoroughly describes very current forms of research being done

as well as current testing that is used in the diagnosis of ALS. I may want to do more research

into gene therapy along with stem cell research for one of my specific aspects of ALS. Some of
the testing involved in diagnosing MNDs I have never heard or read about so I can use this

information to learn about the delayed diagnosis of some MNDs, but specifically ALS.

Mozes, A. (n.d.). Caring for ALS patient brings emotional strain. Retrieved October 4, 2019,

from ABC News website:

https://abcnews.go.com/Health/Healthday/story?id=4506244&page=1

Summary

This ​article ​discusses the psychological effects of caring for an ALS patient. Even though the

patient is suffering from a physical disease, the caregiver is more at risk for depression due to

watching the progression of the disease. Interviews were conducted in a study based on the

hypothesis that ALS over time negatively affects the mental state, and they found that the mental

state of a group of caregivers worsened over time, while the patient stayed fairly stable. The

patient’s ability to do this could be attributed to the appreciation for and help offered by their

caregivers, who were usually family. The caregivers were also shown to have increased fatigue,

stress, and emotional burden. The patients had a trend of depression as well, but the caregivers

showed a more rapid decline in mental health. The patient tends to start at a low point of

depression then rises and stabilizes while the caregiver worsens due to feelings of hopelessness,

however they fear voicing their feelings due to what their loved ones are going through. The

study shows how important it is to attend to the health issues of caregivers and patients

especially in terms of resources. (Mozes, n.d.)

Application to research

This article was very useful in terms of finding actual evidence of the psychological effects on

the caretakers of patients with terminal illnesses, which is one of my potential focuses this year.
It goes into psychological effects on the ALS patients which is helpful towards my background

and in-depth knowledge of ALS. In the future, I would like to do research on the personal effects

of having a mental illness in all aspects and more on the mental effects on loved ones.

New Amyotrophic Lateral Sclerosis data have been reported by investigators at university

medical center utrecht (revised Airlie House consensus guidelines for design and

implementation of ALS clinical trials). (2019, September 13). ​Health & Medicine Week,​

2545. Retrieved from

https://link.gale.com/apps/doc/A598731344/HWRC?u=hcpub_hebron&sid=HWRC&xid

=d1704555

Summary

This ​newsletter​ refers to a new research procedure regarding ALS. It discusses changes in the

clinical trial procedures of ALS enacted by leaders in the international ALS community and

those who fund research. The original guidelines written in 1999 were reviewed and areas of

need in ALS research addressed. These areas were preclinical studies, biological and phenotypic

heterogeneity, outcome measures, disease-modifying, and symptomatic interventions,

recruitment and retention, biomarkers, clinical trial phases, beyond traditional trial designs, and

statistical considerations. Many factors were taken into these guidelines including funding,

public opinion and comments, ethics, and expert opinion. The final report has 112 summarized

guidelines including their background and rationale for creation.

Application to research

This source is useful for my interest in more effective ALS research, especially to improve the

timing of diagnosing the disease. The guidelines are presented in a connecting link to the
newsletter and, based on how recent this article is, the experts are hopeful new guidelines will

soon improve the process of research in terms of effectiveness and timeliness.

Nzwalo, H. & Abreu, D. & Swash, M. & Pinto, S. & de Carvalho, M. (2014). Delayed diagnosis

in ALS: The problem continues. Journal of the Neurological Sciences.

10.1016/j.jns.2014.06.003.

Summary:

This ​journal​ studies what causes delayed diagnosis in ALS and why the problem has continued.

Some main points the journal offers are that only 10% of ALS patients diagnosed by

non-neurologists offered a correct diagnosis and diagnosis time is shorter for females and

patients with bulbar-onset ALS. Also, diagnosis time was longer for younger patients and

neurologists usually offered more accurate diagnoses, thus those who saw a neurologist earlier

had an earlier and better diagnosis. In the majority of patients, they first saw a general

practitioner when they noticed symptoms (55%), 16% first saw a neurologist, and 14% first saw

an orthopedist. The diagnostic process was assessed in 120 consecutive patients. They

considered times from onset to first consultation (T1), second consultation (T2) and diagnosis

(TD). They concluded that diagnostic delay generally resulted from delayed referral from

non-neurologist physicians to a neurologist. Also, incomplete neuro physical examination affects

the diagnosis.

Application to research

This source applies to my research because it gives me information and statistics as to why

patients are diagnosed late and what effect what type of doctor you see has on the diagnosis

process and accuracy of the diagnosis. It also shows a strong conclusion as to what causes a late
diagnosis while considering many factors. This source helped me very much in terms of finding

data on late diagnosis which I have not previously found and in the future, I want to look at more

studies evaluating early vs. late diagnosis.

Khairoalsindi, O. A., & Abuzinadah, A. R. (2018). Maximizing the survival of Amyotrophic

Lateral Sclerosis patients: current perspectives. ​Neurology Research International,​ ​2018,​

12. https://doi.org/10.1155/2018/6534150

Summary

The ​journal​ offers a substantial background on Amyotrophic Lateral Sclerosis. Roughly 90% of

ALS cases are sporadic and the resulting 10% are familial cases. The journal describes in detail

the two approved drugs for ALS, Riluzole, and ​Edaravone​. Both drugs, however, have limited

effectiveness. Edaravone slows ALS progression by 33% in a selected subgroup of ALS patients.

It also describes the various treatment and intervention methods such as early diagnosis,

medications, gene therapy, stem cell therapy, diet, nutritional supplements, multidisciplinary

clinics, and mechanical invasive and noninvasive ventilation. The journal further discusses

recent information on masitinib a ​tyrosine kinase inhibitors that modulate the neuroinflammation

seen in neurodegenerative diseases. Results from a study testing masitinib on a rat progeny were

encouraging as they prolonged survival significantly. The journal describes the role of early

diagnosis using genetic screening. Genetic counseling for the relatives of patients constitutes an

important step in detecting any future possibility of developing familial ALS (FALS). The gene

mutation C9orf72 is found in 40% of familial ALS cases. Testing frequently does not happen

even with the chance of FALS because the molecular tests that detect the mutations of the
implicated genes have low predictivities and therefore there is unavoidable doubt when

predicting the probabilistic risk to the relatives of patients.

Application to research

This journal applies to my research because it describes all the treatment methods for ALS and

involves a lot of recent results and data for new technology and ideas. It also details the role of

many things I had not previously seen such as vitamins and nutrition and their effects on ALS as

a whole.

Prell, Tino & Steinbach, Robert & Witte, Otto & Grosskreutz, Julian. (2019). Poor emotional

well-being is associated with rapid progression in amyotrophic lateral sclerosis.

eNeurologicalSci. 16. 100198. 10.1016/j.ensci.2019.100198.

Summary:

This journal involved a study that aimed to determine the effect of emotional well-being on

progression and survival in amyotrophic lateral sclerosis (ALS). A rating scale that measures

ALS physical function and a questionnaire was collected for 224 ALS patients that did not have

significant cognitive problems. Most patients were concerned with their future in terms of the

disease and 67% of the patients felt depressed. The data analysis included logistic regression,

Kaplan-Meier curves analyses, and Cox regression model. Patients with good emotional

well-being showed better physical function and lower disease aggressiveness. The association

between high emotional well-being and lower disease aggressiveness was confirmed in analysis

and also after accounting for known predictors of disease progression. In the analysis, the overall

mortality rate did not significantly differ between patients with poor and good emotional

well-being. The study demonstrates an association between emotional well-being and disease
progression but knowing that well-being is neither a necessary nor a sufficient cause of health

means that long term studies are necessary to explore when and how well-being does and does

not influence ALS progression and survival.

Application to research

This source is helpful for my research because my more specific topic is the cognitive and

behavioral changes involved in ALS and this source describes how mental health or lack thereof

can impact the progression of the disease. The source also makes me think about how lifestyle

factors and behavior influence ALS.

Rachakonda, V., Pan, T. & Le, W. Biomarkers of neurodegenerative disorders: How good are

they?. ​Cell Res​ ​14,​ 349–358 (2004) doi:10.1038/sj.cr.7290235

Summary:

This ​journal​ looks at biomarkers and their effectiveness with neurodegenerative diseases.

Biomarkers are biological substances that can be utilized to indicate the presence of a certain

disorder. Identifying ​neuropathological, biochemical, and genetic biomarkers of diseases has

been very important in recent years because it allows for the diagnosis to potentially be

established in earlier stages. ​The main goal of scientists relating to biomarkers of ALS is to show

direct evidence of motor neuronal degeneration within the brain or spinal cord. About 2% of all

ALS and 20% of familial cases are associated with mutations in the gene for copper/zinc

superoxide dismutase, SOD1. Animal models have shown that those with the mutant human

SOD1 gene develop progressive skeletal muscle atrophy, paralysis, and death, similar to what is

seen in humans. This gene seems to be the best biological marker currently available for familial

ALS. There is a specific phenotype associated with the recessive SOD1 gene mutation. This
mutation remains largely unknown and is one of the few with a consistent phenotype. Two more

genetic mutations, ALS2 and NEFH have been associated with ALS, leading to the possibility of

two more genetic markers, but studies have shown that these two mutations are not common

causes of ALS. The causes and workings of ALS are largely unknown but the resulting

biological changes have been recognized. The journal also mentions surrogate markers. A

surrogate marker is basically a substitute for another marker to disease-related mechanisms that

can also be used in the diagnosis or measurement of the progression of ALS because no real

biomarkers have been confirmed for the disease.

Application to research

This source applies to my research because biomarkers are a fairly new area of

neurodegenerative disease research where certain genes are used to create indicators of a disease

or disorder. This has the potential to be incredibly effective in creating an earlier and more

effective diagnosis for ALS which the main part of my research question.

Rothstein, J. (2020, January 18). [Telephone interview by the author].

Summary

This interview was short and over the phone with Dr. Jeffrey Rothstein, the head of the Answer

ALS organization and head researcher at Johns Hopkins University. In the interview, we

discussed how early detection of ALS affects the quality of life, which treatment methods have

the potential to be most effective, the psychological impact of early diagnosis, the benefits of

early diagnosis for cognitive impairment, the increase in cases of ALS, and environmental

factors in ALS. Some of the interviewee’s answers to these questions were that he believed that

without currently effective treatment early vs late diagnosis does not make a great deal of
difference in quality of life aside from the ability to prepare for what is to come, and he also said

that the psychological impact of early diagnosis is going to be about as great as a regularly timed

diagnosis. He also said many patients come in with cognitive impairment before diagnosis with

ALS so it can be difficult to pinpoint whether it was caused by the ALS and thus difficult to

know whether diagnosing earlier would affect cognitive impairment in any way. Lastly, he stated

that he believed that environmental factors had minimal or zero impact overall on ALS but the

increase in ALS cases seen is likely due to increased awareness about it and improved accuracy

of diagnosing it and lower rates of misdiagnosis.

Application to research

This interview greatly benefited my research by allowing me to ask questions and receive

answers from someone who is highly qualified in the field of ALS and has been doing decades

of research. The answers gave me a clear opinion from a professional that contributes to my

view of ALS research as a whole.

Rymore, R. (2013). ​Lou Gehrig Disease, ALS or Amyotrophic Lateral Sclerosis Explained. ALS

Symptoms, signs, stages, types, diagnosis, treatment, caregiver tips, aids, and what to

expect is all covered.​ IMB.

Summary

This book generally covers all aspects of ALS, some in more detail than others, and explains to

the reader how patients and caretakers can try to manage the disease. The author of this book

found that there was a lack of knowledge available on ALS when he tried finding books in order

to help his friends that had ALS. The book provided a thorough history of ALS, treatments, and

all the general knowledge that is known about ALS, as well as ways caregivers, can assist in the
treatment of ALS for patients and important information for them to know. It covers diagnosis

quite well going through the standard process and the types of people to be referred to, such as

neurologists, as well as why the process is frequently delayed. The tips and aids for caregivers is

very descriptive because that was one of the main purposes for the author writing the book. It

goes into possible genetic testing for children to predict ALS because 5-10% is genetic and it

also describes the role of food and nutrition in ALS citing historical displays of diet causing

spikes in the number of ALS cases.

Application to research

The book applies to my research because it covers many ideas that I am aiming to cover in my

research paper and this will allow me to include details I have not found in other research thus

far because the author used many, many sources to compile a singular book he believed would

be helpful for ALS patients and caregivers.

Scutti, S. (2016, June 29). Stem cell study for ALS patients shows promise, yet causes pain.

Retrieved September 23, 2019, from CNN website:

https://www.cnn.com/2016/06/29/health/als-stem-cell-research/index.html

Summary

This ​website​ from CNN is about stem cell research involving human trials with ALS

patients. Stem cells from a healthy human spinal cord were injected into the spinal cord of

patients with ALS. The doctors were hoping that the cells would find a familiar environment

and help to slow the disease. Additionally, the article discussed how the disease functions and

the ethics of human trials. Before human trials are conducted there are multiple levels of

ethical review. The trials caused substantial pain in some patients causing alarm, and two
 patients faced severe complications from the procedure. However, in most patients the trials

did not accelerate the ALS and in one case potentially slowed it. ALS is a disease that causes

the degeneration of nerve cells that control motor function in the body, and it is progressive

and painful(Scutti, 2016).

Application to research

In the future, I want to​ focus on the effect of the utilization of stem cells on the health of an ALS

patient​. This source, while involving a specific study that was done, did not provide much detail

about how stem cell treatments work within the body or how they are done. However, it gives a

good basic explanation of what ALS is and how it affects a person's body functions and abilities

It also presents background information on human trials which is helpful because they are a big

part of ALS research.

Vejux, A., Namsi, A., Nuri, T., Moreau, T., & Lizard, G. (2018). biomarkers of Amyotrophic

Lateral Sclerosis: Current status and interest of oxysterols and phytosterols . ​Frontiers in

Molecular Neuroscience​ , ​11,​ 12. https://doi.org/10.3389/fnmol.2018.00012

Summary

This journal article provides a summary of what amyotrophic lateral sclerosis is, general

features, current treatments, genetic factors associated with it, cell dysfunctions and molecular

mechanisms associated with it, the involvement of lipids (both clinical and Physiopathological

arguments), the role of oxysterols in brain function, conventional biomarkers of ALS, and

oxysterols in terms of potential biomarkers of ALS. The article offers an interesting table that

contains genes involved in familial or genetic ALS and a description of that gene and which

variation of ALS it is seen in​. Along with clinical biomarkers, neurophysiological methods of
detecting motor neuron damage can be used. ​Processes such as oxidative stress, glutamate

excitotoxicity, and protein accumulation are largely associated with ALS. It is difficult to use

biomarkers to determine an early diagnosis, but given the involvement of lipids in the physiology

of ALS and certain pathways, a potential theory could be the use of oxysterols, such as those

associated with oxidative stress, or phytosterols as biomarkers in the diagnosis process of ALS.

Application to research

This journal applies to my research because it explains biomarkers in ALS which is a large part

of my research question and it explains potential biomarkers. It also gives tables and diagrams

showing the genes involved in FALS and the difference in the role that oxysterols play in

demyelinating and non-demyelinating diseases.

Vucic, S., Cheah, B. C., Yiannikas, C., & Kiernan, M. C. (2011). Cortical excitability

distinguishes ALS from mimic disorders. ​Clinical Neurophysiology,​ ​122(​ 9), 1860-1866.

https://doi.org/10.1016/j.clinph.2010.12.062

Summary

This journal study shows how cortical hyperexcitability is an early feature of ALS. It is an

important mechanism in ALS. It can be tested through the threshold tracking transcranial

magnetic stimulation (TTTMS) technique. In this article studies were done on 156 patients with

various neuromuscular symptoms as well as healthy controls. Short interval intracortical

inhibition was lowered in ALS patients compared to non-ALS patients. Intracortical facilitation

was found to be increased in ALS patients but the cortical silent period duration was also

reduced in these patients. This study involved many forms of testing for ALS patients, patients

with similar but non-ALS diseases, and healthy individuals, and the goal of the study was to
determine a factor to differentiate ALS from diseases that may mimic its symptoms. This study

concluded that the presence of cortical hyperexcitability was a key factor in distinguishing ALS

from mimicking diseases. This is significant because the TTTMS technique might prove to be

very useful as a diagnostic tool for ALS.

Application to research

This source is very beneficial for my research because I was lacking sources on how types of

testing can help confirm an early diagnosis for ALS and this study provides a potential type of

testing and how it can differentiate ALS from similar disease as a large part of the late diagnosis

in ALS is due to repeated misdiagnosis.

Wang, J. (2020, January 14). [Telephone interview by the author].

Summary

This was an interview with Dr. Jun Wang from the University of Austin, Texas. He is a professor

and researcher and is an expert in neurology and communications. He published a study on ALS

in correlation with communication, and the possibility of using speech as a way to predict ALS.

One question we discussed in the interview was; how much earlier are you able to diagnose ALS

using speech detection methods compared to traditional methods? We discussed this and how,

through speech detection, a diagnosis might be determined up to half a year or a year earlier

through machine learning. However, he said they are still doing their long term study so they can

not make a definite conclusion as to what the results will be. We discussed a number of other

questions, and some general things the interviewee said was that he believes early diagnosis has

the potential to improve quality of life more once there is an effective treatment but right now it

can only improve it as much as slowing certain symptoms and allowing for earlier planning for
once the symptoms progress much further. He also stated that there are certainly some emotional

and psychological effects of ALS but he does not do too much clinical work so that is not his

area of expertise. He did say, though, that patients are generally more open to hearing a diagnosis

earlier than later if it is very probable and they are often eager to help in research and

experimental treatments.

Application to research

This interview benefits my research by allowing me to get professional expertise from someone

doing research firsthand and getting the opinion of someone dealing with up and coming

research. The interview opened up some new questions relating to the more clinical side of ALS,

as the interviewee works more with data then following up with patients.

Wang, J. & Kothalkar, P. & Cao, B. & Heitzman, D., (2016). Towards automatic detection of

amyotrophic lateral sclerosis from speech acoustic and articulatory samples. 1195-1199.

10.21437/Interspeech.2016-1542.

Summary:

This ​journal​ is about using automatic detection of ALS from speech samples to improve the

timely diagnosing of ALS. Early diagnosis is critical with battling ALS in many aspects. The

current method of diagnosing ALS is based on clinical observations of motor neuron damage

which is expensive, time-consuming, and often offers a delayed diagnosis allowing the disease to

have progressed before being diagnosed. This paper investigates the automatic detection of ALS

through speech samples and this method could advance the diagnosis of ALS. The investigation

used short speech samples from pre-symptomatic patients, utilizing machine learning methods

and a couple of thousand speech samples collected from eleven ALS patients and eleven healthy
individuals. The results of the investigation indicate the feasibility of the automatic detection of

ALS from speech samples and adding articulatory motion information from tongue and lips

could improve the detection even more. The journal offers detailed diagrams relating to the study

and speech articulation as well as tables on the patient’s data. “Electromagnetic articulographs

were used for collecting speech acoustic and articulatory movement data” (Wang et al, 2016,

p.3) from patients and the machines track electric sensors that are attached to the parts of the

patient’s head and mouth.

Application to research

This journal offers information I had not discovered in my previous research on how to improve

the diagnosis process for ALS and gives extreme detail through the study on this method of

potentially diagnosing. After reading this journal I want to research more on how speech

articulation and patterns may be able to indicate ALS earlier than physical symptoms.