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Article

SCA17 homozygote showing Huntington's disease-like phenotype.

Annals of neurology - 1 Feb 2004

Toyoshima Yasuko, Yamada Mitsunori, Onodera Osamu, Shimohata Mitsuteru, Inenaga Chikanori, Fujita Nobuya, Morita Masahiro, Tsuji Shoji, Takahashi Hitoshi

Abstract excerpt

We report a homozygous case of spinocerebellar ataxia type 17 with 48 glutamines. The age of the patient at disease onset was not lower than those of heterozygotes with the same CAG-repeat sizes, but the clinical manifestations were rapidly progressive dementia and chorea. Neuronal loss was relatively restricted and most prominent in the Purkinje cell layer and striatum; however, intranuclear neuronal...

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Identifiers

PMID: 14755733
DOI: 10.1002/ana.10824

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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