## 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
Clinical utility gene card for: fragile X mental retardation syndrome, fragile X-associated tremor/ataxia syndrome and fragile X-associated primary ovarian insufficiency
✍ Scribed by Jacquemont, Sebastien; Birnbaum, Stefanie; Redler, Silke; Steinbach, Peter; Biancalana, Valérie
- Book ID
- 109849498
- Publisher
- Nature Publishing Group
- Year
- 2011
- Tongue
- English
- Weight
- 411 KB
- Volume
- 19
- Category
- Article
- ISSN
- 1018-4813
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
## 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 Fragile X‐associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder with core features of action tremor and cerebellar gait ataxia. Frequent associated findings include parkinsonism, executive function deficits and dementia, neuropathy, and dysautonomia. Magnetic Resonan