Article
Update on the Clinical, Radiographic, and Neurobehavioral Manifestations in FXTAS and FMR1 Premutation Carriers.
Cerebellum (London, England) - 1 Oct 2016
Hall Deborah A, Robertson Erin, Shelton Annie L, Losh Molly C, Mila Montserrat, Moreno Esther Granell, Gomez-Anson Beatriz, Martínez-Cerdeño Verónica, Grigsby Jim, Lozano Reymundo, Hagerman Randi, Maria Lorena Santa, Berry-Kravis Elizabeth, O'Keefe Joan A
Abstract excerpt
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a progressive neurodegenerative disorder caused by a repeat expansion in the fragile X mental retardation 1 (FMR1) gene. The disorder is characterized by kinetic tremor and cerebellar ataxia, shows age-dependent penetrance, and occurs more frequently in men. This paper summarizes the key emerging issues in FXTAS as presented at the Second International...
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