Fragiles X-assoziiertes Tremor-/Ataxie-Syndrom
✍ Scribed by C. Finke; R. Horváth; E. Holinski-Feder; C.J. Ploner
- Book ID
- 105806744
- Publisher
- Springer-Verlag
- Year
- 2009
- Tongue
- German
- Weight
- 537 KB
- Volume
- 80
- Category
- Article
- ISSN
- 0028-2804
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## Abstract Carriers of fragile X mental retardation 1 (__FMR1__) premutation alleles (55 to 200 CGG repeats) are generally spared the more serious neurodevelopmental problems associated with the full‐mutation carriers (>200 repeats) of fragile X syndrome. However, some adult male premutation carri
## Abstract Fragile X–associated tremor/ataxia syndrome (FXTAS) is a progressive adult‐onset tremor/ataxia syndrome caused by premutations in the __FMR1__ gene. In cranial MRI, the most characteristic findings are bilateral T2 hyperintense lesions within the middle cerebellar peduncles. Here we pre
## 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