C9orf72 Repeat Expansion Discordance in 6 Multigenerational Kindreds.

Marie RyanMark A DohertyAhmad Al KhleifatEmmet Costello Jennifer C Hengeveld Mark Heverin Ammar Al ChalabiRussell L MclaughlinOrla Hardiman

Published in: Neurology. Genetics (2023)

repeat expansion may carry an increased risk of developing ALS independent of their observed carrier status. This has implications for assessment and counseling of asymptomatic individuals regarding their genetic risk.

Keyphrases

genome wide
smoking cessation
copy number
hiv testing