Chorea-Acanthocytosis Without Acanthocytosis: Sensory Neuronopathy and Epilepsy as Prominent Features From a Novel VPS13A Variant.

Clin GenetAug 2, 2026 (epub)
Case ReportNeurologyOpen access

Leila Tamaoui, Ahmed Bouhouche, Nazha Birouk

✦ AI-curated · Sources linked

Case in brief

A 29-year-old woman with a novel homozygous VPS13A variant presented with drug-resistant temporal-lobe epilepsy and severe sensory neuronopathy. Notably, blood smears showed no acanthocytes, which are typically associated with chorea-acanthocytosis. This case highlights an expanded phenotypic spectrum of the condition beyond its classic hematological feature.

Diagnostic / clinical pearl

Clinicians should consider the possibility of chorea-acanthocytosis in patients with neurological symptoms even in the absence of acanthocytes.

Why it matters

This case emphasizes the need for awareness of atypical presentations of genetic disorders, which can lead to misdiagnosis if classic features are not observed.

Source

PubMed · PMID 42543166Free full text on PubMed Central

Published in Clin Genet. This summary was written by xxcode from the publication's abstract and metadata. It is not peer reviewed and is not a substitute for the original article. For clinical decisions, review the original publication.

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