CGG Repeat-Associated Translation Mediates Neurodegeneration in Fragile X Tremor Ataxia Syndrome
✍ Scribed by Todd, Peter K.; Oh, Seok Yoon; Krans, Amy; He, Fang; Sellier, Chantal; Frazer, Michelle; Renoux, Abigail J.; Chen, Kai-chun; Scaglione, K. Matthew; Basrur, Venkatesha; Elenitoba-Johnson, Kojo; Vonsattel, Jean P.; Louis, Elan D.; Sutton, Michael A.; Taylor, J. Paul; Mills, Ryan E.; Charlet-Berguerand, Nicholas; Paulson, Henry L.
- Book ID
- 122196989
- Publisher
- Elsevier Science
- Year
- 2013
- Tongue
- English
- Weight
- 337 KB
- Volume
- 79
- Category
- Article
- ISSN
- 0896-6273
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## Abstract Fragile X‐associated tremor/ataxia syndrome (FXTAS) is a neurological progressive disorder associated with the __FMR1__ gene premutation. We report on variable presentation of findings associated with FXTAS in 3 brothers aged 68, 74, and 73 years, carrying premutation alleles of (CGG)~1
## 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