HUNTINGTONS

DISEASE
Chad Ikerd
History

Named after George Huntington

First described the disease among residents of East
Hampton, Long Island in 1872 when symptoms arose
in several people
In 1993, a collaborative group of investigators
discovered the gene that causes Huntingtons
Disease
Affects about 30,000 people in America while at
least 150,000 more are at risk
Causes of Huntingtons Disease

Huntingtons disease is an autosomal dominant

trait passed on from generations before
The disease is caused by a faulty gene on
chromosome four

Every human contains this gene and the CAG triplet,

which produces a protein called Huntingtin
Individuals with Huntingtons contain an abnormally
large number of CAG repeats, which causes the
body to produce an abnormal form of huntingtin

Cells in parts of the brain specifically, the basal

ganglia and parts of the cortex are very sensitive
to the effects of the abnormal huntingtin. This
makes them function poorly and eventually die.
Basal Ganglia Function

The brain sends messages through the

basal ganglia to control movements,
thought processes, and motivation
It's still unclear exactly how abnormal
huntingtin affects the brain cells and
why some are more sensitive than
others
Abnormal basal ganglia function will
cause a variety of symptoms

This Photo by Unknown Author is licensed under CC BY-SA

Symptoms

Huntingtons symptoms usually arise in carriers during their

middle ages
Symptoms usually begin with involuntary movements or
fidgets and will progress towards complete inability to
move and difficulty swallowing in late stages
Psychological symptoms are also present. Individuals with
Huntingtons are prone to lack of motivation, memory loss,
depression, and even dementia in late stages
3 Stages

The course of the disease can be split into 3 stages:

Early Stage- Patients can still perform most of their usual activities. They may still be working
and may still be able to drive. Involuntary movements are mild and infrequent, speech is still
clear, and dementia, if present at all, is mild.
Middle Stage- Patients are more disabled and may need assistance with some of their activities
of daily living. Falls, weight loss, and swallowing difficulties may become a problem. Dementia
is more obvious to the casual observer. Involuntary movements are more pronounced.
Late Stage- Patients entering this stage of the disease require almost total care and may reside
in hospitals or nursing homes, although some remain at home. They may no longer be able to
walk or speak. They may be more rigid now and show fewer involuntary movements. Individuals
in this stage may or may not be able to swallow food. At this stage most patients do not seem
to suffer much as they are apparently unaware of their surroundings. When the patient passes
away, the cause of death is usually related to malnutrition, pneumonia, or heart failure.
Diagnosis and Treatment Options

Early diagnosis and detection is available in the form of a blood test

Treatment options are limited and there is no current cure
Treatments mostly focus on treating the symptoms and slowing the progression of the
disease
medications can be given in small doses to HD patients to help suppress the
involuntary movements
Depression and other psychiatric conditions in people with HD can be quite effectively
treated
Proper nutrition, exercise and precautions in the home can help minimize many of the
potential consequences of HD such as weight loss, falls, and choking on food
Many HD sufferers in late stages require constant care in the form of being placed in a
nursing home or hiring in home services
Conclusion

Everyone deserves a high quality of life

Research is important to create treatments to improve
quality of life for patients with HD
Better treatment options are needed to treat symptoms of
HD
Gene therapy is a promising option for treatment in the
future, but researchers have a long way to go before the
disease can be eliminated
References

Mennitto, D. (2016, October 21). About Huntington's Disease and Related Disorders at The
Johns Hopkins Hospital. Retrieved July 23, 2017, from
http://www.hopkinsmedicine.org/psychiatry/specialty_areas/huntingtons_disease/patie
nt_family_resources/education_whatis.html

Huntington's disease. (n.d.). Retrieved July 23, 2017, from https://www.bupa.co.uk/health-

information/directory/h/huntingtons-disease

Huntington's disease - Causes. (n.d.). Retrieved July 23, 2017, from

http://www.nhs.uk/Conditions/huntingtons-disease/Pages/causes.aspx