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Huntingtons Disease

Hadley McCormick

April 6th 2012

2A

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Basics

Huntington's disease is an incurable,hereditary brain disorder.

HD was discovered by GeorgeHuntington in 1872.

Symptoms typically show between30 and 45 years of age.

Used to be called Huntington'sChorea, because the involuntarymovements made by patients withthe disease can appear to be likejerky dancing - "chorea"

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George HuntingtonApril 9, 1850 March 3, 1916

He was the first person toprovide a description ofadult-onset HD in 1872.

At age 22, his paper onHuntingtons disease was

published in 1872 in theMedical and SurgicalReporter.

J. Hoffman first reported ajuvenile form of HD in 1888through his studies of athree-generation family.

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Causes Huntington's diseaseis caused by an

inherited defect in asingle gene that ispassed down fromone generation toanother.

Autosomal dominantdisorder, which meansthat a person needs

only one copy of thedefective gene todevelop the disorder.

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Where is it found?

The faulty gene thatcauses Huntington'sdisease is found onchromosome #4. Anormal copy of thegene produceshuntingtin, a protein.The faulty gene is larger

than it should be andproduces a larger formof huntingtin.

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http://gleesonbiology.pbworks.com/w/page/7537899/M2

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How it is Diagnosed

Neurological examination Tests reflexes and

coordination

Psychiatric evaluation

Evaluates emotional stateand patterns of behaviors.

Genetic counseling andtesting

Tests for a defective geneand confirms diagnosis.

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Symptoms

Huntington's disease usually causesmovement, cognitive and psychiatricdisorders with a wide spectrum of signs andsymptoms.

Such as: Involuntary jerking or writhing movements

(chorea)

Difficulty planning, organizing and prioritizing

tasks Difficulty in learning new information

Fatigue, tiredness and loss of energy

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Treatment Currently, there is no treatment forHuntingtons disease.

Medicine is prescribed to patients helpsdeal side effects, but doesnt cure the

entire disease.

Research is being done andtechnologies are enabling scientists tosee what the defective gene does to

various structures in the brain and how

it affects the body's chemistry andmetabolism.

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Works Cited

Heidi Chial, Ph.D. Huntington's Disease: The Discovery of the Huntingtin Gene. Ed.

Alexandre Vieira. 2008. 6 April 2012.

.

Jan Banzer, Patrick Jucker-Kupper. Biography of George Huntington. Ed. Daniel

Enersen. n.d. 6 April 2012. .

Nordqvist,Christian. What Is Huntington's Disease? What Causes Huntington'sDisease? 9 August 2009. 6 April 2012.

.

Staff, Mayo Clinic. Huntington's Disease. n.d. 6 April 2012.

.

National Institute of Neurological Disorders and Stroke. NINDS Huntington's

Disease Information Page. 13 August 2010. 6 April 2012..

Symptoms, Findings, and Clinical Course of Huntington's Disease. 14 January 2011.

6 April 2012. .