Progressive ataxia and orolingual chorea revealing a novel VPS13A variant: a case report of chorea-acanthocytosis without peripheral acanthocytosis with a literature review.

Abstract excerpt

Chorea-acanthocytosis (ChAc), also referred to as VPS13A-related disease, is a rare autosomal recessive neurodegenerative disorder caused by biallelic pathogenic variants in VPS13A. Peripheral acanthocytosis, historically considered a diagnostic hallmark, is increasingly recognized as variable and inconsistent. We describe a 47-year-old Moroccan man presenting with progressive gait instability, orolingual chorea,...

Topics

• Humans
• Male
• Vesicular Transport Proteins
• Neuroacanthocytosis
• Middle Aged
• Mutation
• Magnetic Resonance Imaging
• Chorea