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Tyshawn Poe
Biology
Thomlinson-Period 1
April 18, 2016
Genetic Disorder:
Huntingtons Disease
Huntington's Disease: this disease was first recognised as an inherited disorder in 1872 when a
22-year-old American doctor, George Huntington, wrote a paper called On Chorea. His paper
was later published in the Medical and Surgical Reporter of Philadelphia and the disorder he
described became known as Huntington's Chorea. Huntington's Disease is caused by a defective
gene which results in the gradual destruction of neurons (brain cells), particularly in those parts
of the brain known as the basal ganglia and the cerebral cortex. The defective gene can be
passed from one generation to the next. If a parent has the gene, each child has a 50/50 chance of
either inheriting or not inheriting it.
Symptoms:
This disease usually starts to progress and then gets worse for about 10-25 years, unfortunately
until the person dies. Early features like personality changes, mood swings, and unusual
behavior. The people with this disease may not even be aware of themselves having these
problems .Early stages of HD are characterized by deficits in short-term memory, followed by
motor dysfunction and a variety of cognitive changes in the intermediate stages of dementia.
These deficits include diminished verbal fluency, problems with attention, executive function,

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visuospatial processing, and abstract reasoning. Language skills become affected in the final
stages of the illness, resulting in a marked word-retrieval deficit.
Influencing this disorder:
Ever since 1997, the HDSA launched an innovative and new approach to get ahold of the
Huntingtons disease. There was a team of researchers called the Coalition for the cure. They
had published many important findings regarding the function of the Huntington protein,
possibly new targets and pathways to treat HD. No one person has been the subject of this
disease
How is it passed down:
All humans possess 2 alleles for the Huntington (HTT) gene. HD is inherited in an autosomal
dominant manner. All nucleated cells of the human body contain 46 chromosomes, and also with
23 derived from each parent. An affected person usually inherits the altered gene from one
affected parent..
What chromosomes are affected:
No chromosomes are affected but HD is caused by a genetic defect on chromosome 4. The
mutation is a characteristic expansion of a nucleotide triplet repeat in the DNA that codes for the
protein Huntington. The gene that produces HD lies on chromosome 4, one of the 22 non-sexlinked, or "autosomal," pairs of chromosomes, placing men and women at equal risk of acquiring
the disease.
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Frequency in births:

In the United States alone, about 30000 people are born with HD, estimates of it prevalence are
about 1 in every 10000 people. As far as research there isnt really enough evidence to prove
whether male or female are affected the most. The life expectancy is between 30 and 50 years of
age depending on how aggressive the disease is.The frequency of HD in different countries
varies.
Treatments:
There are several clinics for HD such as Mayo Clinic, Neurological Disorders and Stroke Clinic.
At this point there is no cure, and as far as gene therapy there is none taking place. Depending on
how aggressive the HD is also depends on how long you live.
Interesting Facts about Huntington's Disease:
Huntingtons disease affects about 30,000 Americans.
Huntingtons disease is now considered one of the most common hereditary brain disorders.
Huntingtons disease usually appears between the ages of 30 and 50.
It affects both the basal ganglia, which controls coordination, and the brain cortex, which serves
as the center for thought, perception, and memory.
Eventually, the individual becomes totally dependent on others for care, with death often due to
pneumonia, heart failure, or another complication.

CITES

Http://www.nervous-system.emedtv.com/. Web.
"Brain and Nervous System Disorders Center: Stroke, Injuries, Aneurysms, Tumors, and More."
WebMD. WebMD. Web. 18 Apr. 2016.

Wexler NS, Young AB, Tanzi RE, Travers H, Starosta-Rubinstein S, Penney JB, et al.
Homozygotes for Huntington's disease. Nature. Mar 12-18 1987. 326(6109):194-7
Folstein SE. Huntington's Disease: A Disorder of Families. The Johns Hopkins University Press.
1989.