Article
Milestones in genetics of cerebellar ataxias.
Neurogenetics - 1 Oct 2021
Krygier Magdalena, Mazurkiewicz-Bełdzińska Maria
Abstract excerpt
Cerebellar ataxias (CAs) comprise a group of rare, neurological disorders characterized by extensive phenotypic and genetic heterogeneity. The core clinical feature is the cerebellar syndrome, which is often accompanied by other neurological or non-neurological signs. In the last 30 years, our understanding of the CA etiology has increased significantly, and numerous ataxia-associated genes have been discovered....
Topics
- Ataxia
- Cerebellar Ataxia
- Genetic Heterogeneity
- Humans
- Mutation
- Phenotype
- Spinocerebellar Degenerations
