Title: Mastering the Challenge: Crafting a Huntington's Disease Literature Review

Embarking on a literature review journey, especially when delving into a complex topic like
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adds another layer of complexity, necessitating frequent updates and revisions to ensure accuracy and
relevance.

Furthermore, the technical language and specialized terminology inherent in scientific literature can
pose a barrier for those unfamiliar with the field. Understanding the nuances of genetic mutations,
molecular pathways, and clinical manifestations requires not only intellectual rigor but also a deep-
seated grasp of scientific principles.

In addition to the academic challenges, time constraints and other commitments often exacerbate the
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Please try again. Not in a club? Learn more Join or create book clubs Choose books together Track
your books Bring your club to Amazon Book Clubs, start a new book club and invite your friends to
join, or find a club that’s right for you for free. There are three major areas of impact: movement,
emotion and thinking. Improving communication and comprehension can lead to a decrease in
undesirable behaviour. This means that parents, who usually have less number of repeats, show mild
symptoms, which may later become more severe in their later lives. To review the existing literature
on the prevalence of Huntingtons disease HD in the US and Canada and to estimate the number of
people in the US currently affected by this disease. In Western populations HD has a prevalence of
106137 individuals per 100 000. Read instantly on your browser with Kindle for Web. This
condition is known as chorea, and it leads to the difficulty in swallowing, speaking and walking.
These maps have been used as vital research tools and have proved to be invaluable in determining
more than 100 genes involved in diseases such as achondroplasia, breast cancer, colon cancer, and
Huntington disease. Moreover, emerging therapies in HD, including gene therapy using siRNA and
shRNA to silence CAG repeats or deep brain stimulation, have shown promising results. We also use
third-party cookies that help us analyze and understand how you use this website. Mutated HTT is
the cause of Huntington's disease This has been identified as a modifier of Huntington’s disease in
several genetic studies, although the mechanism affecting the onset of disease has remained elusive.
New clinical studies on managing and treating this disease will be of significant help to future
patients. Join us for your FREE digital copy of our magazine and exclusive invites to events. These
parts of the brain control planning, personality, movement and planning. He worked for 15 years as a
research engineer, managing programs and teams that developed hi-tech engineered wood products.
Peer-reviewed journal featuring in-depth articles to accelerate the. Where does the client have a good
time, and with whom? 3. Although most of the therapies are at a pre-clinical stage, phase II-III
clinical trials have been performed for each pathophysiological mechanism of the disease. Huntington
disease HD is an adult-onset autosomal dominant disorder characterized by progressive deterioration
of intellectual function bradykinesia rigidity and progressive chorea. Huntington disease HD is an
adult-onset autosomal dominant disorder characterized by progressive deterioration of intellectual
function bradykinesia rigidity and progressive chorea. As the disorder progresses, these symptoms
worsen, often leading to trouble walking, talking, swallowing, and volatile mood changes. Thus each
child of the affected person usually has a 50% chance of inheriting Huntington's disease. Families
and caretakers of the patients should carefully examine the resulting symptoms and treat them
accordingly. In HD patients, this sequence normally repeats itself several times, and the number of
repeats becomes larger in the subsequent generations. California: Johns Hopkins University Press.
HDSA. (2008). Treatment Guidelines for Huntington's: Who Needs Them. Currently, over 15,000
Americans live with Huntington’s disease, and at least 150,000 others are at 50 percent risk of
developing this disease (WebMD, 2011). Revvity needs the contact information you provide us to
keep you aware about relevant content, products, and services. Parents who carry this defective gene
are also advised to seek genetic counseling, so as to find ways of limiting its spread to their children
(Lemiere, 2004). They are now working with Babraham Research Campus-based biotech start-up
Adrestia Therapeutics to translate the discovery into therapies.
It gives a complete medical dictionary covering hundreds of terms and expressions relating to
Huntington's disease. Thus each child of the affected person usually has 50% chances of inheriting
the Huntington's disease. The book is designed for physicians, medical students preparing for Board
examinations, medical researchers, and patients who want to become familiar with research
dedicated to Huntington's disease. Patients appear aggressive and irritable, and they begin to display
inappropriate sexual or social behavior (WebMD, 2011). Download Free PDF View PDF See Full
PDF Download PDF Loading Preview Sorry, preview is currently unavailable. Even though the the
important pathophysiology of the HD happens in the caudate and putamen, rest regions of the brain
are similarly influenced and also show a significant characteristic in the HD pathophysiology. Using
human cells and techniques that can read DNA repeat expansions, they found FAN1 can block the
accumulation of the DNA mismatch repair factors. Mutated HTT is the cause of Huntington's disease
This has been identified as a modifier of Huntington’s disease in several genetic studies, although the
mechanism affecting the onset of disease has remained elusive. Early symptoms include irritability,
depression, small involuntary movements, poor coordination, and cognitive problems particularly in
learning new information and reasoning. Identification of neuropathological mechanisms that
underlie the selective striatal and cortical neurodegeneration has allowed for the development of
novel neuroprotective therapies that may improve HD patients' quality of life and enhance their
survival. As a result, individuals with this disease develop complications associated with poor
coordination, thought and cognitive abilities. It also analyzed reviews to verify trustworthiness. Read
instantly on your browser with Kindle for Web. A normal human being has approximately 30,000
genes, which determine a person’s traits and characteristics (HDSA, 2008). HD is an autosomal
dominant neurodegenerative disorder characterized by cognitive deficits psychosis and motor
dysfunction Finkbeiner 2011. The clumps disrupt the normal functioning of the brain cells, which
eventually leads to death of neurons in the brain, resulting in Huntington disease. Most importantly
for caregivers, don’t carry the burden alone: Involve all members of the multidisciplinary care team,
family members and friends. You will receive a link to create a new password via email. People with
HD often take longer to provide a response. This means that parents, who usually have less number
of repeats, show mild symptoms, which may later become more severe in their later lives. Patients
may become frustrated, depressed, and unable to perform their duties sufficiently. When a gene is
dominant, only a single chromosome is needed to produce its effect, and when it is recessive, pair of
chromosome copies is required to produce a characteristic or trait. Although it is well established that
psychiatric symptoms are common in Huntingtons disease 1-5 research and clinical emphases have
been on motor and cognitive aspects of the disorder. Any child, who does not inherit a copy of HD
gene from parents, can never develop this condition, and he or she cannot pass it to the next
generations. The clinical symptoms of HD involve motor dysfunction, behavioural disturbances and
cognitive decline. Here are some tips to help you observe, gather and share information. This review
is based on the pathophysiology of HTT on HD. The mutation underlying disease is the expansion of
the highly polymorphic CAG repeat tract in the first exon of the HD gene In fact, HD belongs to a
group of disorders for which the causative mutation is the expansion of CAG repeats in the
respective genes. It also gives extensive lists of bibliographic citations. These parts of the brain
control planning, personality, movement and planning.
Huntingtons disease HD is a rare neurodegenerative disease of the central nervous system
characterized by choreatic movements behavioral disturbances and neuropsychiatric sequelae. The htt
protein is ubiquitously expressed in human tissues but the predominance of the interest in the
pathology lies in its effects on the central nervous system (CNS). If a person with HD is stuck on a
specific idea or thought, you will not be able to reason with them or talk them out of that line of
thinking. Huntington disease HD is an adult-onset autosomal dominant disorder characterized by
progressive deterioration of intellectual function bradykinesia rigidity and progressive chorea. Tuvalu
Uganda Ukraine United Arab Emirates United States US Minor Outlying Is. Thus, efforts should
continue to ensure that effective therapies are studied and tested to help mitigate HD. This means
that parents, who usually have less number of repeats, show mild symptoms, which may later
become more severe in their later lives. Clinical researches such as the use of stem cells- specialized
group of cells which are capable of producing other cells- will help in developing new brain cells,
which can be transplanted into the patient’s brain so as to enhance their balance, thinking,
swallowing and other outlooks (HDSA, 2008). The researchers, working as part of Cambridge and
UCL’s involvement in the UK Dementia Research Institute (DRI), investigated the role of a DNA
repair protein called FAN1. For readers unfamiliar with medical terminology, a comprehensive
glossary is provided. Sources frequently state that 30000 individuals living in the US have HD but
the methodology used to derive this. They provide the instruction for making the protein. HD is an
autosomal dominant neurodegenerative disorder characterized by cognitive deficits psychosis and
motor dysfunction Finkbeiner 2011. The disease is caused by the mutation of the gene that produces
the huntingtin protein causing the repetition of trinucleotide CAG. Huntington's disease is very much
common in Western European descendents than in those of African or Asian ancestry. Medical
researchers and other scientists are also promising to introduce RNA interference (RNAi), which is
capable of stopping the functions of the targeted cells in the body. The Journal of Huntingtons
Disease is a peer-reviewed medical journal that will be launched in 2012 and will cover research on
Huntingtons disease and related disorders. He regularly interviews KOLs and advocates and those
conversations, along with his keen insights into the rare disease community and interest in the latest
medical innovations, often guide his CME ideas. Patients may present with any of these symptoms
and familiarity with the phenotype is therefore important. Molecule of Huntingtin protein, the
protein coded for by the HTT gene, 3D illustration. To review the existing literature on the
prevalence of Huntingtons disease HD in the US and Canada and to estimate the number of people
in the US currently affected by this disease. It was found to stop repeat expansion and alleviate
toxicity in cells derived from patients. Early symptoms include irritability, depression, small
involuntary movements, poor coordination, and cognitive problems particularly in learning new
information and reasoning. Be flexible and ready to try several strategies; trial and error may be
necessary. When a gene is dominant, only a single chromosome is needed to produce its effect, and
when it is recessive, pair of chromosome copies is required to produce a characteristic or trait. Brad is
CAP’s executive director, planning and managing many live and virtual patient educational events.
They lack the ability to groom themselves, organize their surroundings, and have memory loss. It is
believed that this is caused by a new genetic mutation, a process that usually occurs during sperm
development (Lemiere, 2004). Until today, scientists and researchers have very little understanding
about this disease. Scientists at the University of Cambridge and UCL have identified a mechanism
that stops its progression in cells.
The human HD gene (IT-15) was localized to chromosome 4p16.3 and consists of 67 exons spanning
180 kb of DNA. Brad is CAP’s executive director, planning and managing many live and virtual
patient educational events. Thought you might appreciate this item(s) I saw in Current Opinion in
Neurology. He worked for 15 years as a research engineer, managing programs and teams that
developed hi-tech engineered wood products. The clinical symptoms of HD involve motor
dysfunction, behavioural disturbances and cognitive decline. The more you can observe, gather and
share information, the more support you can provide. 7. What intervention supported the person in
calming down? 8. Most importantly for caregivers, don’t carry the burden alone: Involve all members
of the multidisciplinary care team, family members and friends. Improving communication and
comprehension can lead to a decrease in undesirable behaviour. It also gives extensive lists of
bibliographic citations. It is caused by the accumulation of toxic repetitive expansions of three DNA
blocks, or nucleotides (C, A and G), in the huntingtin (HTT) gene. Huntington disease HD is an
adult-onset autosomal dominant disorder characterized by progressive deterioration of intellectual
function bradykinesia rigidity and progressive chorea. A normal human being has approximately
30,000 genes, which determine a person’s traits and characteristics (HDSA, 2008). There are two
types of Huntington’s disease: adult-onset Huntington’s disease, which is the most common, and an
early-onset form, which begins in childhood or adolescent stages of development (Lawrence, 2009).
The disease is caused by the mutation of the gene that produces the huntingtin protein causing the
repetition of trinucleotide CAG. The disease is often termed a repeat expansion disorder. Although
most of the therapies are at a pre-clinical stage, phase II-III clinical trials have been performed for
each pathophysiological mechanism of the disease. Parkinsons disease is the most common of several
akinetic-rigid syndromes and Huntingtons disease is only one of an ever growing number of
trinucleotide repeat disorders. Every strand of DNA is made up of two paired chemicals known as
bases. We use cookies to create the best experience for you. The htt protein is ubiquitously expressed
in human tissues but the predominance of the interest in the pathology lies in its effects on the
central nervous system (CNS). It also gives extensive lists of bibliographic citations. Public,
academic, government, and peer-reviewed research studies are emphasized. It is a family disease that
is common in most countries, and the rate at which it is spreading is also worrying, since there is no
absolute treatment for this disease. These parts of the brain control planning, personality, movement
and planning. But opting out of some of these cookies may affect your browsing experience. Brunei
Darussalam Bulgaria Burkina Faso Burundi Cambodia Cameroon Canada Cape Verde Cayman
Islands Central African Republic Chad Chile China Christmas Island Cocos (Keeling) Islands
Colombia Comoros Congo Congo, The Dem. Parkinsons disease and Huntingtons disease are both
model diseases. Families and caretakers of the patients should carefully examine the resulting
symptoms and treat them accordingly. Thus each child of the affected person usually has a 50%
chance of inheriting Huntington's disease. These cookies will be stored in your browser only with
your consent.