Motoneuron Involvement in CANVAS: A Case of ACAGG Expansions in a Guamanian Man (P12-11.026)
To describe the clinical course in the case of a Guamanian man with pathogenic biallelic RFC1 gene ACAGG expansions associated with early motoneuron involvement.
Authors
- Beatriz Anguiano (ORCID: https://orcid.org/0000-0001-9022-7716)
- Jacinda B. Sampson (ORCID: https://orcid.org/0000-0002-4991-6496)
- Devon Bonner (ORCID: https://orcid.org/0000-0002-8771-0886)
- Matthew Thomas Wheeler (ORCID: https://orcid.org/0000-0001-8721-3022)
- Gabrielle Dufort
- Jonathan A. Bernstein (ORCID: https://orcid.org/0000-0001-5369-346X)
Institutions
- Stanford University (US)
Publication Details
- Journal
- Neurology
- Published
- 2025-04-07
- DOI
- https://doi.org/10.1212/wnl.0000000000211419
- Primary Topic
- Genetic Neurodegenerative Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00