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- W128598981 abstract "Huntington's disease is an autosomal dominant neurodegenerative disease that leads to marked atrophy of basal ganglia structures, the caudate, and putamen, as well as less marked atrophy of other brain nuclei. It is thought to be the most common inherited adult neurodegenerative disease, affecting 1 in 15,000 in the United States. The average age of onset is approximately 38 years old; much younger-onset cases and onset in older adults also occurs less commonly. The hallmark of the illness is an involuntary movement disorder, chorea. Some patients have little or no chorea and instead appear slow and rigid (i.e., with parkinsonian characteristics). The illness leads to death, with an average duration of symptoms of about 20 years. The gene that causes the disease has been identified. The Huntington mutation is an expanded trinucleotide (CAG) n repeat that causes an excessively long polyglutamine stretch located in a novel protein called huntingtin . How the mutation leads to the onset of a disorder of motor, emotional, and cognitive control in people who have matured normally until middle age is still a mystery. The gene discovery has made genetic diagnosis common, both in neurologically normal patients (presymptomatic testing) and in neurologically or psychiatrically impaired patients (diagnostic testing). Transgenic animal models of the disease provide researchers with powerful new tools to search for effective treatments. It is hoped that research will soon uncover the cause of the slow neuronal loss, which is stimulated by the mutation and underlies the tragic illness." @default.
- W128598981 created "2016-06-24" @default.
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- W128598981 date "2003-01-01" @default.
- W128598981 modified "2023-09-24" @default.
- W128598981 title "Huntington's Disease" @default.
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- W128598981 doi "https://doi.org/10.1016/b0-44-306557-8/50128-3" @default.
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