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Article

A neuropathological study of autosomal-dominant chorea-acanthocytosis with a mutation of VPS13A.

Acta neuropathologica - 1 Jan 2009

Ishida Chiho, Makifuchi Takao, Saiki Shinji, Hirose Genjiro, Yamada Masahito

Abstract excerpt

We report the first autopsy case of genetically confirmed, autosomal-dominant chorea-acanthocytosis (AD-ChAc), showing a heterozygous mutation (G-A) at nucleotide position 8,295 in exon 57 of VPS13A. The patient was a 36-year-old Japanese man and the duration of his illness was 11 years. Neuropathologically, the patient showed marked atrophy and neuronal loss, particularly small and medium-sized neurons, with...

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Identifiers

PMID: 18584183
DOI: 10.1007/s00401-008-0403-1

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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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