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

Leila Tamaoui·Ahmed Bouhouche·Nazha Birouk
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Abstract

A 29-year-old woman with a novel homozygous VPS13A frameshift variant presented with drug-resistant temporal-lobe epilepsy and severe sensory neuronopathy, but no acanthocytes on repeated blood smears-expanding the phenotypic spectrum of chorea-acanthocytosis beyond its defining haematological feature.

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HumansFemaleVesicular Transport ProteinsAdultNeuroacanthocytosisEpilepsyPhenotypeFrameshift MutationVPS13Achorea‐acanthocytosischoreinnovel variantsensory neuronopathytemporal lobe epilepsyCase ReportsJournal Article

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Leila Tamaoui, Ahmed Bouhouche, Nazha Birouk. 2026-08-02. Chorea-Acanthocytosis Without Acanthocytosis: Sensory Neuronopathy and Epilepsy as Prominent Features From a Novel VPS13A Variant.. https://doi.org/10.1111/cge.70223

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