Huntingtons Chorea

Holly Bent & Audrey Lookner

How is the Disease Inherited? Dominant, recessive,

sex-linked or unknown?

Huntingtons Disease is inherited in

an autosomal dominant pattern.
This means that everyone who
inherits the disease will, at some
point, show symptoms. A parent
who has the faulty gene has a 50%
chance of passing it on.

What is Huntingtons Chorea?

The disease destroys cells in the basal
ganglia part of the brain that controls
movement, emotions and cognitive ability
Huntingtons is caused by a mutation on
chromosome 4
The normal chromosome 4 is to direct the
delivery of small packages to the outside
of the cell
The coding part of this gene codes for
CAG, which normally apears about 10 to
26 times in a normal person
But in a person who has HD the amount of
CAG is abnormally high

Diagnosis
Diagnosis
Symptoms of Huntingtons are subtle, making the disease
hard to diagnose
If there is a family history the disease can be diagnosed
by a physical or neurological exam
A blood test can find the gene that causes Huntingtons,
everyone who carries the gene will eventually start to
show symptoms but nobody can ever tell how prevalent or
severe the symptoms will be
Symptoms (What can be affected by Huntingtons Disease)
Intellectual abilities: memory loss, inattention, dementia
Uncontrollable movements: twitching, difficulty walking,
difficulty swallowing
Uncontrollable emotions: personality changes, depression,
irritability, anxiety or lack of emotions
Limitations
Limited motor skills or mobility, as the symptoms worsen
the person may need 24/7 care to help with simple day to
day things and to monitor the depression.

Treatment

Treatment

There is no current treatment for Huntingtons

Medications can make patients for
comfortable
Antidepressants
Anxiety medications
Medications that control involuntary
movements
Speech therapy

Life Expectancy if You have Disease

you have the disease from birth until death

The symptoms of HD shorten ones lifespan,
but there is no certain amount of years that

New Research and treatments

Here are the types of Research and attempts for treatments that are being worked on
today:

Basic neurobiology. Now that the HD gene has been located, investigators in the
field of neurobiology-which includes the anatomy, physiology, and biochemistry of
the nervous system-are continuing to study the HD gene with the hope that they
can find how it causes disease in the human body.
Clinical research. Neurologists, psychologists, and psychiatrists are improving
our understanding of the symptoms and progression of the disease in patients
while attempting to develop new therapeutics.
Imaging. Scientific investigations using PET and other technologies are enabling
scientists to see what the defective gene does to various structures in the brain
and how it affects the body's chemistry and metabolism.
Animal models. Laboratory animals, such as mice, are being bred in the hope of
duplicating the clinical features of HD and can soon be expected to help scientists
learn more about the symptoms and progression of the disease.
Fetal tissue research. Investigators are implanting fetal tissue in rodents and
nonhuman primates with the hope that success in this area will lead to
understanding, restoring, or replacing functions typically lost by neuronal
degeneration in individuals with HD.

Support Groups and such

The Huntington's Disease Society of America offers tons of
support and help for those who are affected by
Huntingtons. The Society offers:
Support Groups
Physicians
Legal Resources
Geriatric Care Managers
Long-Term Care /
Nursing Homes
Genetic Testing Centers
Adult Day Care Facilities
In-Home Care resources
Physical Therapists
Speech Therapists
Visit their site and getr help and information today!
http://hdsa.org/about-hdsa/locate-resources/

How is Disease Linked with Evolution

Fun Facts

Evolution

The bad news is that Huntington's belongs to a class of genetic diseases that
for the most part, escape natural selection. Huntington's is often "invisible" to
natural selection for a very simple reason: it generally does not affect people
until after they've reproduced. In this way, the alleles for late-onset
Huntington's may evade natural selection, "sneaking" into the next generation,
despite its deleterious effects. Early-onset cases of Huntington's are rare;
these are an exception, and are strongly selected against. Also simple
mutations in genes are causing more of the population to experience
Huntingtons.

Fun Facts

In the US 1 in every 30,000 people get

Huntingtons Disease
The disease was named after Dr.
George Huntington who first described
the disease in 1872

Bibliography
Huntington's Disease. (n.d.). Retrieved March 17, 2016, from
http://learn.genetics.utah.edu/content/disorders/singlegene/hunt/
Huntington's Disease (Chorea) Guide: Causes, Symptoms and Treatment
Options. (n.d.). Retrieved March 16, 2016, from
http://www.drugs.com/health-guide/huntington-s-disease-chorea.html
IU Health. (n.d.). Retrieved March 16, 2016, from
http://iuhealth.org/neuroscience-center/specialties/huntingtons-disease/
N. (2016, January 28). Huntington's Disease: Hope Through Research.
Retrieved March 17, 2016, from
http://www.ninds.nih.gov/disorders/huntington/detail_huntington.htm#3137
_13
Locate Resources. (2016). Retrieved March 17, 2016, from
http://hdsa.org/about-hdsa/locate-resources/
Huntington's Chorea: Evolution and Genetic Disease. (2002). Retrieved
March 17, 2016, from
http://evolution.berkeley.edu/evolibrary/article/medicine_05