New Case of Spinocerebellar Ataxia, Autosomal Recessive 4, Due to VPS13D Variants.

Abstract excerpt

Movement disorders such as bradykinesia, tremor, dystonia, chorea, and myoclonus most often arise in several neurodegenerative diseases with basal ganglia and white matter involvement. While the pathophysiology of these disorders remains incompletely understood, dysfunction of the basal ganglia and related brain regions is often implicated. The VPS13D gene, part of the VPS13 family, has emerged as a crucial...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Genes, Recessive
• Share to Mutation
• Share to Pedigree