Understanding Huntington's Disease Essay

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Understanding Huntington's Disease

Diagnosis of Huntington's Disease

Today, a blood test is available to diagnose a person displaying suspected Huntington's symptoms. The test analyzes DNA in the blood sample and counts the number of times the genetic code for the mutated Huntington's gene is repeated. Individuals with Huntington's Disease usually have 40 or more such "repeats;" those without it, 28 or fewer. If the number of repeats falls somewhere in between then more extensive neurological and diagnostic testing are called for. Tests of the patients hearing, eye movements, strength, feeling, reflexes, balance, movement and mental condition will follow. The patient may also be asked about any recent intellectual or emotional
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Most often, symptoms begin between the ages of 35 and 50, although onset may occur at any time from childhood to old age. Research continues to progress rapidly, but up to this point no cure has been found.

Huntington's disease is inherited in an autosomal dominant fashion. The child of an affected parent has a 50% chance of inheriting the disease. The discovery of the HD gene in 1993 has made it possible to test at-risk individuals for Huntington's disease before symptoms occur.

Clinical Features

The clinical features of Huntington's disease can be thought of as a triad of emotional, cognitive and motor disturbances. Symptoms include chorea (dance-like involuntary movements), clumsiness, slurred speech, depression, irritability, and apathy. Cognitive losses may include attention, intellectual speed, and short-term memory.

Huntington's disease affects people in different ways. One member of a family may have more trouble with clumsiness while another may have emotional outbursts. Moreover, symptoms of Huntington's disease in the same individual change over time.


Huntington's disease is characterized by atrophy of the caudate nucleus and putamen. There are two populations of GABAergic striatal efferent neurons that are involved and this is evident based on their projection targets and neuropeptide content. In the very early stages of the disease there is a major loss of
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