<scp><i>FGF14</i> GAA</scp> Intronic Expansion in Unsolved Adult‐Onset Ataxia in the <scp>Care4Rare</scp> Canada Consortium
Our diagnostic yield demonstrates this expansion may be the most common cause of adult-onset SCA in dominant families of FC ancestry. Our FC participants have a phenotype distinct from previously published FC patients, with gaze-evoked nystagmus being the most common eye anomaly. From a diagnostic standpoint, the pathogenic GAA repeat can be identified by OGM, but additional tests are required to complement the interpretation.
Authors
- Pierre R. Bourque (ORCID: https://orcid.org/0000-0002-7455-0254)
- Jodi Warman‐Chardon (ORCID: https://orcid.org/0000-0002-0187-2199)
- Alexandre White‐Brown
- M. Cloutier (ORCID: https://orcid.org/0000-0002-1927-5085)
- David A. Dyment (ORCID: https://orcid.org/0000-0001-9085-3602)
- Wendy Mears
- Matt C. Danzi (ORCID: https://orcid.org/0000-0003-1568-5965)
- Alexanne Cuillerier (ORCID: https://orcid.org/0000-0001-8505-3758)
- Alan J. Mears (ORCID: https://orcid.org/0000-0002-2045-5497)
- Gerald Pfeffer (ORCID: https://orcid.org/0000-0002-7657-7098)
- Dennis E. Bulman (ORCID: https://orcid.org/0000-0003-2588-4255)
- Erika Wall (ORCID: https://orcid.org/0000-0003-1984-8063)
- Kym M. Boycott (ORCID: https://orcid.org/0000-0003-4186-8052)
- Giulia Gobbo (ORCID: https://orcid.org/0000-0001-7368-0033)
- Laura M. McDonell (ORCID: https://orcid.org/0000-0001-9375-4423)
- Madeline Couse (ORCID: https://orcid.org/0000-0002-3373-3214)
- Luke Seldenthuis
- Laura Larrigan
- Layla Mackay
- Oksana Suchowersky
Institutions
- University of Miami (US)
- University of Ottawa (CA)
- University of Alberta (CA)
- University of Calgary (CA)
- University of Toronto (CA)
- Children's Hospital of Eastern Ontario (CA)
- Ottawa Hospital (CA)
- Hospital for Sick Children (CA)
- Newborn Screening Ontario (CA)
- Dr. John T. Macdonald Foundation (US)
- SickKids Foundation (CA)
- Ottawa Hospital Research Institute (CA)
Publication Details
- Journal
- Annals of Clinical and Translational Neurology
- Published
- 2025-04-07
- DOI
- https://doi.org/10.1002/acn3.70016
- Citations
- 3
- Primary Topic
- Genetic Neurodegenerative Diseases
- Type
- article
- Field-Weighted Citation Impact
- 2.73
Funders
- Genome Canada
- Children’s Hospital of Wisconsin Research Institute
- BC Children's Hospital
- Ontario Genomics
- Children's Hospital of Eastern Ontario Foundation
- CHEO Research Institute
- Ontario Genomics Institute
- Genome British Columbia
- Canada Research Chairs
- Hospital for Sick Children
- Genome Alberta
- Canadian Institutes of Health Research