C9orf72-G₄C₂ Intermediate Repeats and Parkinson's Disease; A Data-Driven Hypothesis.

ABSTRACT: Pathogenic C9orf72-G₄C₂ repeat expansions are associated with ALS/FTD, but not with Parkinson's disease (PD); yet the possible link between intermediate repeat lengths and PD remains inconclusive. We aim to study the potential involvement of these repeats in PD. The number of C9orf72-repeats were determined by flanking and repeat-primed PCR assays, and the risk-haplotype was determined by SNP-array. Their association with PD was assessed in a stratified manner: in PD-patients-carriers of mutations in LRRK2, GBA, or SMPD1 genes (n = 388), and in PD-non-carriers (NC, n = 718). Allelic distribution was significantly different only in PD-NC compared to 600 controls when looking both at the allele with higher repeat's size (

SUBMITTER: Kobo H 

PROVIDER: S-EPMC8391122 | biostudies-literature | 2021 Aug

REPOSITORIES: biostudies-literature