# Molecular Genetics of SCA1

> **NIH NIH R01** · UNIVERSITY OF MINNESOTA · 2020 · $374,764

## 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:** 9894853
- **Project number:** 5R01NS022920-32
- **Recipient organization:** UNIVERSITY OF MINNESOTA
- **Principal Investigator:** Harry T. Orr
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $374,764
- **Award type:** 5
- **Project period:** 1986-09-30 → 2023-02-28

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/9894853

## Citation

> US National Institutes of Health, RePORTER application 9894853, Molecular Genetics of SCA1 (5R01NS022920-32). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/9894853. Licensed CC0.

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