Phenotypic variability among siblings with heterozygous VPS13A variants

Background: Chorea-acanthocytosis (ChAc) is a rare neurodegenerative disorder caused by autosomal recessive mutations in the VPS13A gene. Key clinical characteristics include the progressive movement disorder characterized by chorea, orofaciolingual dyskinesias, limb or facial dystonia. Seizure, neuropathy, psychiatric symptoms, and dilated cardiomyopathy are also frequently found(1). To expand the clinical spectrum of ChAc, we present the phenotypic diversity observed in two siblings carrying the compound heterozygote (ht) variant of c.145-2A>T and c.3943 C>T (p.Gln1315*).
Source: Parkinsonism and Related Disorders - Category: Neurology Authors: Source Type: research