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Acta Neuropathologica
Published in: Acta Neuropathologica 4/2014

01-04-2014 | Correspondence

Neuropathological findings in chorea-acanthocytosis: new insights into mechanisms underlying parkinsonism and seizures

Authors: Barbara S. Connolly, Lili-Naz Hazrati, Anthony E. Lang

Published in: Acta Neuropathologica | Issue 4/2014

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Excerpt

Chorea-acanthocytosis (ChAc) is an autosomal recessive disorder caused by a VPS13A gene mutation, encoding chorein. ChAc was originally described as progressive chorea, unstable gait, involuntary oral biting, tics, seizures, peripheral neuropathy, and blood acanthocytes [5, 12]. Parkinsonism was later described [16, 17] to coexist with chorea, transition from chorea over time, or manifest without hyperkinetic features [3, 13], although ChAc was only diagnosed clinically in these cases. …
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Metadata
Title
Neuropathological findings in chorea-acanthocytosis: new insights into mechanisms underlying parkinsonism and seizures
Authors
Barbara S. Connolly
Lili-Naz Hazrati
Anthony E. Lang
Publication date
01-04-2014
Publisher
Springer Berlin Heidelberg
Published in
Acta Neuropathologica / Issue 4/2014
Print ISSN: 0001-6322
Electronic ISSN: 1432-0533
DOI
https://doi.org/10.1007/s00401-013-1241-3

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