Expanding the Genetic Landscape of ATXN2: Insights from a Novel Homozygous CAG Repeat Expansion at the Spinocerebellar Ataxia Type 2 Locus in an Acadian Family (P6-5.021)
To describe a novel ATXN2 variant: a polyglutamine repeat expansion within the fully penetrant range of Spinocerebellar Ataxia Type 2 (SCA2), asymptomatic in heterozygous alleles; however, it presents as a neurodegenerative disorder in the homozygous state.
Authors
- Jacob Saucier (ORCID: https://orcid.org/0000-0001-8956-1258)
- Nicolas Crapoulet (ORCID: https://orcid.org/0000-0002-7832-6196)
- Philippe Pierre Robichaud
- Mouna Ben Amor (ORCID: https://orcid.org/0000-0002-3854-2871)
- Ludivine Chamard-Witkowski (ORCID: https://orcid.org/0000-0002-2676-6392)
- Anne‐Marie Dion‐Côté (ORCID: https://orcid.org/0000-0002-8656-4127)
- Éric P. Allain (ORCID: https://orcid.org/0000-0003-4283-6060)
- Mohammad Al-Qadi (ORCID: https://orcid.org/0000-0002-4848-1451)
- Mario Álvarez (ORCID: https://orcid.org/0000-0002-7442-1284)
Institutions
- Dalhousie University (CA)
- Université de Moncton (CA)
- Dr. Georges-L.-Dumont University Hospital Centre (CA)
- Université de Montréal (CA)
Publication Details
- Journal
- Neurology
- Published
- 2025-04-07
- DOI
- https://doi.org/10.1212/wnl.0000000000211745
- Primary Topic
- Genetic Neurodegenerative Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00