Bi-allelic intermediate ATXN2 repeat expansions are associated with slow progressing, leg-onset familial ALS.

ABSTRACT:

Objectives

The identification of bi-allelic intermediate ATXN2 repeat expansions in a pedigree with amyotrophic lateral sclerosis (ALS) through clinical testing prompted us to investigate its relevance in the wider ALS population.

Methods

ATXN2 repeat size was assessed in a large international cohort of ALS patients (n=6653 from Project MinE) and in neurologically intact control populations (n=13 515 controls from Project MinE and gnomad). For bi-allelic cases, we retrieved medical records, family history and MRI imaging. For familial cases, we obtained DNA samples from relatives for segregation analyses.

Results

In total, we identified bi-allelic intermediate ATXN2 repeat expansions in five familial cases from three different pedigrees and five a

SUBMITTER: Demaegd KC 

PROVIDER: S-EPMC12918675 | biostudies-literature | 2026

REPOSITORIES: biostudies-literature