Treatment of fragile X–associated tremor/ataxia syndrome with unilateral deep brain stimulation
✍ Scribed by Tao Xie; Robert Goodman; Nina Browner; Elizabeth Haberfeld; Linda Winfield; Jill Goldman; Blair Ford
- Publisher
- John Wiley and Sons
- Year
- 2012
- Tongue
- English
- Weight
- 716 KB
- Volume
- 27
- Category
- Article
- ISSN
- 0885-3185
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## Abstract There is no established treatment for the neurological features of the recently discovered fragile X–associated tremor/ataxia syndrome (FXTAS). Fifty‐six patients with FXTAS completed a questionnaire to determine whether any medications had been effective for neurological symptoms. Of 1
Fragile X-associated tremor ataxia syndrome (FXTAS) is a genetic disorder caused by a FMR1 gene premutation; it can result in severe intention tremor and cerebellar ataxia. Neuroimaging and histopathology studies suggest a dysfunction of the rubro-olivo-cerebellar loop. 1 The tremor can become pharm
## Abstract The fragile X‐associated tremor/ataxia syndrome (FXTAS) is a recently identified phenotype associated with trinucleotide repeat expansions in the premutation range of the fragile X mental retardation 1 (__FMR1__) gene. In addition to progressive gait ataxia, action tremor, peripheral ne
## Abstract We report an original case of fragile X‐associated tremor/ataxia syndrome in a female carrier, who had been misdiagnosed for years because of unusual features mimicking other movement or cerebrovascular disorders. She exhibited features that have not been previously described, including