Relationships between motor scores and cognitive functioning in FMR1 female premutation X carriers indicate early involvement of cerebello-cerebral pathways.

ABSTRACT:

Background

Smaller expansions of CGG trinucleotide repeats in the FMR1 X-linked gene termed 'premutation' lead to a neurodegenerative disorder: Fragile X Associated Tremor/Ataxia Syndrome (FXTAS) in nearly half of aged carrier males, and 8-16% females. Core features include intention tremor, ataxia, and cognitive decline, and white matter lesions especially in cerebellar and periventricular locations. A 'toxic' role of elevated and expanded FMR1 mRNA has been linked to the pathogenesis of this disorder. The emerging issue concerns the trajectory of the neurodegenerative changes: is the pathogenetic effect confined to overt clinical manifestations? Here we explore the relationships between motor and cognitive scale scores in a sample of 57 asymptomatic adult female premutation carri

SUBMITTER: Storey E 

PROVIDER: S-EPMC8196444 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature