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Article

Novel pathogenic VPS13A mutation in Moroccan family with Choreoacanthocytosis: a case report.

BMC medical genetics - 4 Mar 2020

Ouchkat Fatima, Regragui Wafaa, Smaili Imane, Naciri Darai Hajar, Bouslam Naima, Rahmani Mounia, Melhaoui Adyl, Arkha Yasser, El Fahime Elmostafa, Bouhouche Ahmed

Abstract excerpt

BACKGROUND: Choreoacanthocytosis (ChAc), is a rare neurodegenerative disease, characterized by movement disorders and acanthocytosis in the peripheral blood smears, and various neurological, neuropsychiatric and neuromuscular signs. It is caused by mutations in VPS13A gene with autosomal recessive pattern of inheritance. CASE PRESENTATION: Here we report two patients belonging to a consanguineous Moroccan family...

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Identifiers

PMID: 32131761
DOI: 10.1186/s12881-020-0983-8
PMCID: PMC7057524

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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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