C9orf72 Repeat Expansion Discordance in 6 Multigenerational Kindreds.

ABSTRACT:

Background and objectives

A hexanucleotide repeat expansion in the noncoding region of the C9orf72 gene is the most common genetically identifiable cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia in populations of European ancestry. Pedigrees associated with this expansion exhibit phenotypic heterogeneity and incomplete disease penetrance, the basis of which is poorly understood. Relatives of those carrying the C9orf72 repeat expansion exhibit a characteristic cognitive endophenotype independent of carrier status. To examine whether additional shared genetic or environmental risks within kindreds could compel this observation, we have conducted a detailed cross-sectional study of the inheritance within multigenerational Irish kindreds carrying

SUBMITTER: Ryan M 

PROVIDER: S-EPMC10751011 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature