Expanding the Genetic Landscape of <i>ATXN2</i> Variants
This study describes a novel <i>ATXN2</i> expansion within the classic pathogenic range for SCA2 that manifests as an early-onset neurodegenerative disorder in the homozygous state, while being asymptomatic into late adulthood in the heterozygous state.
Authors
- Jacob Saucier (ORCID: https://orcid.org/0000-0001-8956-1258)
- Nicolas Crapoulet (ORCID: https://orcid.org/0000-0002-7832-6196)
- Mouna Ben Amor (ORCID: https://orcid.org/0000-0002-3854-2871)
- Ludivine Chamard-Witkowski (ORCID: https://orcid.org/0000-0002-2676-6392)
- Philippe-Pierre Robichaud (ORCID: https://orcid.org/0000-0002-8707-0655)
- Éric P. Allain (ORCID: https://orcid.org/0000-0003-4283-6060)
- Mohammad Al-Qadi (ORCID: https://orcid.org/0000-0002-4848-1451)
- Anne-Marie Dion-Côté
- Mario Alvarez
- Luc Richard
Institutions
- University of New Brunswick (CA)
- Dalhousie University (CA)
- Université de Moncton (CA)
- Atlantic Cancer Research Institute (CA)
- Dr. Georges-L.-Dumont University Hospital Centre (CA)
- Université de Montréal (CA)
Publication Details
- Journal
- Neurology Genetics
- Published
- 2026-02-01
- DOI
- https://doi.org/10.1212/nxg.0000000000200345
- Primary Topic
- Neurological diseases and metabolism
- Type
- article
- Field-Weighted Citation Impact
- 0.00