Spinocerebellar ataxia type 1 (SCA1) is a progressive disorder characterized by loss of motor coordination and balance accompanied by other neurodegenerative problems including speech and swallowing issues, muscle stiffness/weakness and eventual muscle atrophy, cognitive impairments, and dementia. SCA1 is one of several diseases caused by an increase in the number of CAG repeats within the coding region of the disease gene (in this case the Ataxin 1/ATXN1 gene). Fly stocks in the Bloomington collection that can be used to study SCA1 are listed here.
General Information links for Spinocerebellar ataxia type 1:
- OMIM
- NCBI's GeneReviews
- National Library of Medicine's Genetic Home Reference