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Article

Huntington's disease look-alikes.

Handbook of clinical neurology - 1 Jan 2011

Schneider Susanne A, Bhatia Kailash P

Abstract excerpt

Huntington's disease (HD) is caused by a triplet repeat expansion in the IT15 gene on chromosome 4 encoding huntingtin. Gene mutations are found in about 99% of cases, with symptoms and signs suggestive of HD. This implies the existence of other causes of this syndrome, and, in recent years, several other distinct genetic disorders have been identified that can present with a clinical picture indistinguishable...

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PMID: 21496572
DOI: 10.1016/B978-0-444-52014-2.00005-7

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