# Cerebellar Nuclei Dysfunction in Spinocerebellar Ataxia Type 1

> **NIH NIH R21** · UNIVERSITY OF MINNESOTA · 2024 · $423,500

## Abstract

PROJECT SUMMARY/ABSTRACT
SCA1 is a dominantly inherited neurodegenerative disease caused by expansion of CAG repeats in the
ATAXIN-1 (ATXN1) gene. Patients with SCA1 suffer from progressive gait and balance deficits, and severe
degeneration of Purkinje cells (PCs) in the cerebellar cortex and neurons in the cerebellar nuclei (CbN). There
are no effective disease modifying therapies currently available for SCA1, indicating a critical need for better
understanding of disease pathogenesis.
Cerebellar nuclei are a key part of the cerebellar network and the main information output from the cerebellum.
As a consequence, CbN are relevant to motor behaviors regulated by the cerebellum. Remarkably, very little is
known about the dysfunction of CbN in any of the spinocerebellar ataxias (SCAs), including SCA1. The
research described in this proposal will determine how CbN function is altered throughout SCA1 progression,
how mutant ATXN1 (mATXN1) impacts the CbN, and how changes in CbN contribute to SCA1-like motor
deficits. An additional impact of this study will be to expand the concept of SCA1 as a cerebellar circuit
dysfunction disease, stimulating future studies into interactions of the cerebellar cortex and CbN, not only in
SCA1, but in other ataxias as well.

## Key facts

- **NIH application ID:** 11056262
- **Project number:** 1R21NS136962-01A1
- **Recipient organization:** UNIVERSITY OF MINNESOTA
- **Principal Investigator:** Marija Cvetanovic
- **Activity code:** R21 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2024
- **Award amount:** $423,500
- **Award type:** 1
- **Project period:** 2024-09-20 → 2026-08-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/11056262

## Citation

> US National Institutes of Health, RePORTER application 11056262, Cerebellar Nuclei Dysfunction in Spinocerebellar Ataxia Type 1 (1R21NS136962-01A1). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/11056262. Licensed CC0.

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