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Article

Early clinical heterogeneity in choreoacanthocytosis.

Archives of neurology - 1 Apr 2005

Lossos Alexander, Dobson-Stone Carol, Monaco Anthony P, Soffer Dov, Rahamim Ezra, Newman J P, Mohiddin Saidi, Fananapazir Lameh, Lerer Israela, Linetsky Eduard, Reches Avinoam, Argov Zohar, Abramsky Oded, Gadoth Natan, Sadeh Menachem, Gomori John M, Boher Moshe, Meiner Vardiella

Abstract excerpt

BACKGROUND: Choreoacanthocytosis (CHAC) is a slowly progressive multisystem disorder with involuntary movements, cognitive decline, behavioral changes, seizures, and polyneuropathy caused by mutations in the VPS13A gene. OBJECTIVE: To describe the early clinical features and possible genotype-phenotype correlation in CHAC. DESIGN AND SETTING: Case series in a tertiary care center. PATIENTS AND MAIN OUTCOME...

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Identifiers

PMID: 15824261
DOI: 10.1001/archneur.62.4.611

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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