Molecular Genetics of SCA1

NIH RePORTER · NIH · R01 · $374,764 · view on reporter.nih.gov ↗

Abstract

Spinocerebellar ataxia type 1 (SCA1) is one of nine fatal inherited neurodegenerative diseases caused by expansion of an inframe CAG trinucleotide repeat. Each repeat tract encodes a stretch of glutamine residues in the affected protein, in the case of SCA1 the protein is ataxin-1 (ATXN1). Symptoms of SCA1 include loss of motor coordination and balance, slurred speech, swallowing difficulty, spasticity, and some cognitive impairment. A characteristic feature of SCA1 pathology is atrophy and eventual loss of Purkinje cells from the cerebellar cortex. Like many neurodegenerative disorders, SCA1 is typically a late onset disease suggesting that physiological changes due to aging contribute to the onset of the disease. There is currently no effective treatment. Identifying signaling pathways and cellular mediators of SCA1 pathogenesis in the cerebellum leading to ataxia and in the brainstem that underlie lethality are critical in the search for therapeutics and are the focus of the research outlined in this application for continued support.

Key facts

NIH application ID
10137313
Project number
5R01NS022920-33
Recipient
UNIVERSITY OF MINNESOTA
Principal Investigator
Harry T. Orr
Activity code
R01
Funding institute
NIH
Fiscal year
2021
Award amount
$374,764
Award type
5
Project period
1986-09-30 → 2023-02-28