Huntington's disease

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Huntington's disease,

hereditary, acute disturbance of the central nervous system usually beginning in middle age and characterized by involuntary muscular movements and progressive intellectual deterioration; formerly called Huntington's chorea. The disease is sometimes confused with choreachorea
or St. Vitus's dance,
acute disturbance of the central nervous system characterized by involuntary muscular movements of the face and extremities. The disease, known also as Sydenham's chorea (not to be confused with Huntington's disease, a hereditary disease of
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 or St. Vitus's dance, which is not hereditary. A faulty gene produces a defective protein attacks neurons in the basal ganglia, clusters of nerve tissue deep within the brain that govern coordination.

The onset is insidious and inexorably progressive; no treatment is known. Psychiatric disturbances range from personality changes involving apathy and irritability to bipolar or schizophreniform illness. Motor manifestations include flicking movements of the extremities, a lilting gait, and motor impersistence (inability to sustain a motor act such as tongue protrusion).

In 1993 the gene responsible for the disease was located; within that gene a small segment of code is, for some reason, copied over and over. Genetic counseling is extremely important, since 50% of the offspring of an affected parent inherit the gene, which inevitably leads to the disease.

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References in periodicals archive ?
A search using the keyword "Huntington disease" retrieved 14,036 articles.
* The report provides a snapshot of the global therapeutic landscape of Huntington Disease
The company said Huntington disease (HD) is a rare and fatal neurodegenerative disorder caused by the progressive breakdown of nerve cells in the brain that affects about five to seven people per 100,000 in western countries.
A case of adult-onset Huntington disease presenting with spasticity and cerebellar ataxia, mimicking spinocerebellar degeneration.
At the end of the placebo-controlled phase of the trial, the rate of atrophy in the brain's cortex and striatum among pre-manifest Huntington disease carriers was slower among those who received creatine than among the placebo group, who experienced progression.
It had been hoped that transplantation might work after studies in animal models had shown that transplanted tissue from the striatum (the area of the brain most affected by Huntington disease) could survive and improve behavioral symptoms.
Obsessive compulsive disorder in Huntington disease: a case of isolated obsessions successfully treated with sertraline.
Genetic linkage between Huntington disease and the D4S10 locus in South African families: Further evidence against non-allelic heterogeneity.
Huntington disease is caused by a mutation in the huntingtin gene on chromosome 4 (Kremer et al., 1994).
SAHA has also been shown to prevent movement disorders in a mouse version of Huntington disease, where the buildup of abnormal proteins in brain cells jams the acetylation--deacetylation regulatory system.
Laboratory guidelines for Huntington disease genetic testing.

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