Women with Fragile X-associated Tremor/Ataxia Syndrome.

ABSTRACT:

Background

Fragile X-associated tremor and ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder linked to the FMR1 premutation.

Objectives

FXTAS in women is far less common than in men, and this study represents the largest sample reported to date.

Methods

A total of 53 female premutation carriers with FXTAS (mean_age, 66.83 years; FXTAS stages 2-5) and 55 age-matched and demographic background-matched control participants (mean_age, 61.94 years) underwent a comprehensive molecular, physiological, neuropsychological, and psychiatric assessment.

Results

The large sample of female premutation carriers showed a wide range of variability of clinical signs and symptom progression. The imaging results showed a middle cerebella

SUBMITTER: Schneider A 

PROVIDER: S-EPMC7604678 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature