Nerve Excitability in Asymptomatic Carriers and Amyotrophic Lateral Sclerosis Patients With C9orf72.

ABSTRACT:

Objective

We investigated the effects of C9orf72 mutation carriership on peripheral nerve excitability in asymptomatic individuals from families with a history of C9orf72 amyotrophic lateral sclerosis (ALS) and patients.

Methods

We included 47 asymptomatic individuals from families with a history of C9orf72 ALS, of whom 23 were carriers (C9⁺) and 24 were noncarriers (C9^-). In addition, 11 C9⁺ and 110 C9^- ALS patients and 50 healthy controls participated. Nerve excitability tests were conducted on the median nerve. We obtained standard excitability measurements as well as composites of these measurements that reflect various passive and active membrane properties. Data of C9⁺ and C9^- asymptomatic individuals we

SUBMITTER: Stikvoort Garcia DJL 

PROVIDER: S-EPMC12698937 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature