Chorea-Acanthocytosis in a Patient With a Novel Homozygous Pathogenic Variant in the VPS13A Gene | Neurology
A 36-year-old man, born to consanguineous parents, began to experience involuntary movements of the lips and tongue and teeth grinding, accompanied by uncontrolled frequent lip biting that led to ulcers on the lips and oral mucosa 4 years ago. Genetic sequencing revealed the homozygous deletion VPS13A c.7251_7254del, p. Asn2418Thrfs*17, while both parents w ere found to be heterozygous for the variant (Figure 1). Peripheral blood smear indicated 15% acanthocytes, and cerebral MRI showed symmetric atrophy
