Assessment of the Clinical Interactions of GAA Repeat Expansions in <i>FGF14</i> and <i>FXN</i>
Despite both molecular and clinical similarities between FRDA and SCA27B, the length of the GAA repeats in the <i>FGF14</i> gene, including potentially pathogenic alleles, did not influence the clinical presentation of FRDA.
Authors
- David R. Lynch (ORCID: https://orcid.org/0000-0001-7168-214X)
- Bernard Brais (ORCID: https://orcid.org/0000-0003-1394-3561)
- Stephan Züchner (ORCID: https://orcid.org/0000-0002-8498-5235)
- André Nussenzweig
- Matt C. Danzi (ORCID: https://orcid.org/0000-0003-1568-5965)
- David Pellerin (ORCID: https://orcid.org/0000-0002-5807-995X)
- Karen Usdin (ORCID: https://orcid.org/0000-0003-3295-0740)
- Jill S. Napierala (ORCID: https://orcid.org/0000-0002-5141-0822)
- Марек Напиерала (ORCID: https://orcid.org/0000-0002-9987-0641)
- Courtney Park (ORCID: https://orcid.org/0009-0009-4569-584X)
- Gabriel E. Matos-Rodrigues (ORCID: https://orcid.org/0000-0003-4085-7810)
- Brandon J. Gerhart
Institutions
- Montreal Neurological Institute and Hospital (CA)
- University College London (GB)
Publication Details
- Journal
- Neurology Genetics
- Published
- 2024-11-20
- DOI
- https://doi.org/10.1212/nxg.0000000000200210
- Citations
- 4
- Primary Topic
- Genetic Neurodegenerative Diseases
- Type
- article
- Field-Weighted Citation Impact
- 1.07
Funders
- Friedreich's Ataxia Research Alliance
- Biogen
- National Institutes of Health
- Canadian Institutes of Health Research
- National Institute of Neurological Disorders and Stroke