Syndrome of the fragile x chromosome with Tremor/Ataxia (FXTAS): a pilot study in a group of patients with ataxia of unknown aetiology
Abstract
The fragile X tremor/ataxia syndrome (FXTAS) is a progressive disease today only described in adult patients caused by the FMR1 gene permutation. According to recent studies, among its characteristic symptoms is dementia, Parkinsonism, neuropathy and autonomous dysfunction, in addition to tremor and ataxic walk.
An important differentially diagnostic lead can be bilateral hyperintensity in the area of central cerebral peduncles in T2-weighted MR images. While the prevalence of permutation in populations is known (approximately I per 260 women and I per 800 men), the prevalence of FXTAS has not yet been defined, and varies largely in the published patient sets.
We present our first experience from a study focused on the detection of prevalence of FXTAS in ataxic patients in the Czech Republic.