Spinocerebellar ataxia type 12 in a 52-year-old female
Abstract
pinocerebellar ataxia type 12 (SCA12) is a rare autosomal dominant neurodegenerative disorder caused by a cytosineadenine-guanine (CAG) repeat expansion in the PPP2R2B gene.It typically presents with tremor, progressive ataxia, dysarthria and, in some cases, cognitive impairment.Most reported cases have originated from India; the condition has only rarely been described outside that context.
Fields of Study & Subjects
Genetic Neurodegenerative Diseases
Prion Diseases and Protein Misfolding
Hereditary Neurological Disorders
Publication details
- Journal / source
- New Zealand Medical Journal
- Volume
- 139
- Issue
- 1630
- Pages
- 107–111
- Publication date
- 23 February 2026
- Language
- EN