Spinocerebellar ataxia type 2 (SCA 2) in an infant with extreme CAG repeat expansion

Abstract excerpt

Autosomal dominant cerebellar ataxias are a heterogeneous group of neurodegenerative disorders that generally present in adulthood. Spinocerebellar ataxia type 2 typically presents with progressive cerebellar symptoms, slow ocular saccades, and peripheral neuropathy. The onset of symptoms is usually between 20 and 40 years. We describe an infant who presented with neonatal hypotonia, developmental delay, and...

Topics

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

• Share to Genetic Neurodegenerative Diseases
• Share to Mitochondrial Function and Pathology
• Share to Neurological disorders and treatments