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Article

Clinical and genetic findings of three patients with chorea-acanthocytosis.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 3 Jan 2026

D'Amico Anna, Cucunato Roberta, Schirò Giuseppe, Giudice Elda Del, Iacono Salvatore, Ragonese Paolo, D'Amelio Marco, Aridon Paolo

Abstract excerpt

INTRODUCTION: Chorea-acanthocytosis (ChAc) is a rare autosomal recessive neurodegenerative disorder caused by loss-of-function mutations in the VPS13A gene, encoding chorein, a protein involved in membrane homeostasis. CASE REPORT AND METHODS: Three clinical cases are described. The first, a 36-year-old man, presented with hyperkinetic movements, seizures, psychiatric symptoms, and caudate atrophy. Genetic...

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Identifiers

PMID: 41484683
DOI: 10.1007/s10072-025-08698-3

Genes

VPS13A

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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