Unusual Presentation of Cerebellar Ataxia Associated with Heterozygous UBA5 and Homozygous CACNA1A Mutations: A Case Report (P6-5.023)
To describe a case of dystonia and ataxia in a patient with ubiquitin-like modifier activating enzyme 5 gene (UBA5) and calcium voltage-gated channel subunit alpha1 A (CACNA1A) genetic mutations.
Authors
- David F. Fletcher (ORCID: https://orcid.org/0000-0003-2221-4192)
- Lea Colantonio
- Jessica Frey (ORCID: https://orcid.org/0000-0003-1699-1817)
- Yongjia Deng (ORCID: https://orcid.org/0000-0002-0658-0347)
Institutions
- West Virginia University (US)
Publication Details
- Journal
- Neurology
- Published
- 2025-04-07
- DOI
- https://doi.org/10.1212/wnl.0000000000211052
- Primary Topic
- Mitochondrial Function and Pathology
- Type
- article
- Field-Weighted Citation Impact
- 0.00