Article
Genetic characterization of Spinocerebellar ataxia 1 in a South Indian cohort.
BMC medical genetics - 25 Oct 2014
Kumaran Dhanya, Balagopal Krishnan, Tharmaraj Reginald George Alex, Aaron Sanjith, George Kuryan, Muliyil Jayaprakash, Sivadasan Ajith, Danda Sumita, Alexander Mathew, Hasan Gaiti
Abstract excerpt
BACKGROUND: Spinocerebellar ataxia type 1 (SCA1) is a late onset autosomal dominant cerebellar ataxia, caused by CAG triplet repeat expansion in the ATXN1 gene. The frequency of SCA1 occurrence is more in Southern India than in other regions as observed from hospital-based studies. However there are no reports on variability of CAG repeat expansion, phenotype-genotype association and founder mutations in a...
Topics
- Adult
- Age of Onset
- Ataxin-1
- Ataxins
- Cohort Studies
- Female
- Founder Effect
- Genotype
- Humans
- India
- Male
- Middle Aged
- Nerve Tissue Proteins
- Nuclear Proteins