Fragile X–tremor/ataxia syndrome: five areas of new development
| Autor: | Ajal Dave, Jason S. Hawley |
|---|---|
| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
congenital hereditary and neonatal diseases and abnormalities Pediatrics medicine.medical_specialty Fragile X Tremor/Ataxia Syndrome business.industry nervous system diseases 03 medical and health sciences 030104 developmental biology 0302 clinical medicine Neurology Medicine Neurology (clinical) business 030217 neurology & neurosurgery |
| Zdroj: | Future Neurology. 12:249-260 |
| ISSN: | 1748-6971 1479-6708 |
| DOI: | 10.2217/fnl-2017-0019 |
| Popis: | Fragile X–tremor/ataxia syndrome is a relatively newly discovered movement disorder usually affecting patients over the age of 50 who have a FMR1 gene with 55–200 CGG repeats. Patients present with tremor and ataxia and possibly executive dysfunction and peripheral neuropathy. Fragile X–tremor/ataxia syndrome patients have several unique MRI findings including white matter lesions of the middle cerebellar peduncle and splenium of the corpus callosum. The genetics and treatment of this condition are co-developing rapidly as we search for more therapeutic modalities to offer these patients. We will present the latest information available regarding this fascinating syndrome and provide our hypothesis regarding the future focus of research. |
| Databáze: | OpenAIRE |
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