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Huntington chorea

Pronunciation: hunt'ing-ton

Definition: a neurodegenerative disorder, with onset usually in the third or fourth decade, characterized by chorea and dementia; pathologically, there is bilateral marked atrophy of the putamen and the head of the caudate nucleus. Autosomal dominant inheritance with complete penetrance, caused by mutation associated with trinucleotide repeat expansion in the Huntington gene (HD) on chromosome 4p.

Synonym(s): chronic progressive chorea, degenerative chorea, hereditary chorea, Huntington disease

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© Copyright 2017 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.
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