Electrophysiological features of the peripheral neuropathy in patients with pathologic biallelic <scp> <i>RFC1</i> </scp> repeat expansions
Less than half of the patients with RFC1 expansions exhibited the full clinical CANVAS spectrum, but nearly all exhibited typical sensory neuronopathy and abnormal H-reflexes. Involvement of small nerve fibers and brainstem neurons was less common.
Authors
- Émilien Delmont (ORCID: https://orcid.org/0000-0002-5591-2774)
- F. Etienne
- Shahram Attarian (ORCID: https://orcid.org/0000-0002-7211-4694)
- Bonello‐Palot Nathalie
- Verschueren Annie
- Azulay Jean‐Philippe
- Grapperon Aude‐Marie
- Kouton Ludivine
- Gallard Julien
- Salort‐Campana Emmanuelle
- Calezis Claudia
Institutions
- Aix-Marseille Université (FR)
Publication Details
- Journal
- Muscle & Nerve
- Published
- 2024-09-17
- DOI
- https://doi.org/10.1002/mus.28257
- Citations
- 1
- Primary Topic
- Genetic Neurodegenerative Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.27