A Non-familial Case of SCA-42 Variant in Indian Subcontinent
Spinocerebellar ataxia (SCA) is a heterogenous group of neurodegenerative disorder. It causes progressive cerebellar ataxia with other features. We report a rare case of SCA 42 without family history due to mutation in gene-CACNA1G in clinical exome sequencing. Keywords: Spinocerebellar Ataxia; CACNA1G; Clinical Exome Sequencing
Authors
- Kamala Kant Bhoi
Publication Details
- Journal
- Exclusive Real World Evidence Journal
- Published
- 2024-08-20
- DOI
- https://doi.org/10.54136/erwej-0403-10083
- Primary Topic
- Genetic Neurodegenerative Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00