Sex contribution to average age at onset of Huntington's disease depends on the number of (CAG)_n repeats.

ABSTRACT: Huntington's disease (HD) is a hereditary neurodegenerative disorder caused by the extension of the CAG repeats in exon 1 of the HTT gene and is transmitted in a dominant manner. The present study aimed to assess whether patients' sex, in the context of mutated and normal allele length, contributes to age on onset (AO) of HD. The study population comprised a large cohort of 3723 HD patients from the European Huntington's Disease Network's REGISTRY database collected at 160 sites across 17 European countries and in one location outside Europe. The data were analyzed using regression models and factorial analysis of variance (ANOVA) considering both mutated allele length and sex as predictors of patients' AO. AO, as described by the rater's estimate, was found to be later in affected women t

SUBMITTER: Stanislawska-Sachadyn A 

PROVIDER: S-EPMC11231309 | biostudies-literature | 2024 Jul

REPOSITORIES: biostudies-literature