Think of SCA45 in Late‐Onset Familial Ataxias: The First Report from the Indian Subcontinent with a Novel Variant.
- Resource Type
- Article
- Authors
- Ganguly, Jacky; Mukherjee, Soumava; Basu, Purba; Mondal, Banashree; Chatterjee, Koustav; Roy, Akash; Pande, Priyadarshini; Kumar, Hrishikesh
- Source
- Movement Disorders Clinical Practice. Nov2022, Vol. 9 Issue 8, p1140-1143. 4p.
- Subject
- *SPINOCEREBELLAR ataxia
*FRIEDREICH'S ataxia
*CEREBELLAR ataxia
*HEARING disorders
*GENETIC variation
*CELL adhesion molecules
- Language
- ISSN
- 2330-1619
Clinicians should think of this entity in late onset cerebellar ataxia where routine SCA panel repeat expansion study is negative and I FAT2 i gene mutation should specifically be looked for through whole exome sequencing. With a provisional diagnosis of genetic ataxia syndrome, spinocerebellar ataxia (SCA) panel was sent and reported negative. Keywords: late onset ataxia; FAT2; SCA45 EN late onset ataxia FAT2 SCA45 1140 1143 4 11/07/22 20221101 NES 221101 An 82-year-old male patient presented with insidious onset and slowly progressive imbalance during walking over a period of the last 20 years. [Extracted from the article]