Female Fragile X–associated Tremor/Ataxia Syndrome (FXTAS): prevalence and genetic mechanisms of neurological and gynaecological changes in women carrying small FMR1 expansions: data

Fragile X syndrome is one of the commonest genetic forms of mental retardation. Women were thought to be protected, as they carry two X chromosomes, one of which is normal even if the other has a premutation. But very recent reports suggest that they may also develop the Fragile X–associated Tremor/Ataxia Syndrome (FXTAS), as well as early menopause. This study aimed to see how common and severe these abnormalities are in women who carry the premutation, using clinical data, MRI and electronic measurements, and to relate the abnormalities to the severity of the gene malfunction and familial predisposition. Collaborating institutions have taken a different focus to collecting data about 60 participants: Monash University (Elsdon Storey) was responsible for instrumental data; Murdoch Children's Research Institute (Howard Slater) focused on gene/protein analysis; La Trobe University (Danuta Loesch) was responsible for neuropsychological data; University of Melbourne and St Vincent's Hospital (Mark Cook) collected MRI data. Monash University researchers used clinical and instrumental assessment scales and the commercially available CATSYS neurobehavioural test system to collect data, which has been stored in Excel spreadsheets and analysed using SPSS.