Nerve Excitability in Asymptomatic Carriers and Amyotrophic Lateral Sclerosis Patients With C9orf72
Asymptomatic individuals and ALS patients carrying the C9orf72 mutation exhibit a unique electrophysiological phenotype, implicating altered Na<sup>+</sup>-channel characteristics compared to asymptomatic noncarriers and sporadic ALS patients. Monitoring hypoexcitable to hyperexcitable profile transitions in individuals carrying the C9orf72 mutation may be valuable as an early indicator of phenoconversion.
Authors
- H. Stephan Goedee (ORCID: https://orcid.org/0000-0001-9591-1672)
- Boudewijn T.H.M. Sleutjes (ORCID: https://orcid.org/0000-0001-6618-3573)
- Diederik J. L. Stikvoort García (ORCID: https://orcid.org/0000-0003-3984-1635)
- Leonard H. van den Berg
Institutions
- Utrecht University (NL)
- University Medical Center Utrecht (NL)
Publication Details
- Journal
- Annals of Clinical and Translational Neurology
- Published
- 2025-09-09
- DOI
- https://doi.org/10.1002/acn3.70187
- Primary Topic
- Amyotrophic Lateral Sclerosis Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00