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01.10.2016 | Original Paper

Update on the Clinical, Radiographic, and Neurobehavioral Manifestations in FXTAS and FMR1 Premutation Carriers

verfasst von: Deborah A. Hall, Erin Robertson, Annie L. Shelton, Molly C. Losh, Montserrat Mila, Esther Granell Moreno, Beatriz Gomez-Anson, Verónica Martínez-Cerdeño, Jim Grigsby, Reymundo Lozano, Randi Hagerman, Lorena Santa Maria, Elizabeth Berry-Kravis, Joan A. O’Keefe

Erschienen in: The Cerebellum | Ausgabe 5/2016

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Abstract

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 Conference on the FMR1 Premutation: Basic Mechanisms & Clinical Involvement in 2015. The topics discussed include phenotype-genotype relationships, neurobehavioral function, and updates on FXTAS genetics and imaging.

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Titel: Update on the Clinical, Radiographic, and Neurobehavioral Manifestations in FXTAS and FMR1 Premutation Carriers
verfasst von: Deborah A. Hall
Erin Robertson
Annie L. Shelton
Molly C. Losh
Montserrat Mila
Esther Granell Moreno
Beatriz Gomez-Anson
Verónica Martínez-Cerdeño
Jim Grigsby
Reymundo Lozano
Randi Hagerman
Lorena Santa Maria
Elizabeth Berry-Kravis
Joan A. O’Keefe
Publikationsdatum: 01.10.2016
Verlag: Springer US
Erschienen in: The Cerebellum / Ausgabe 5/2016
Print ISSN: 1473-4222
Elektronische ISSN: 1473-4230
DOI: https://doi.org/10.1007/s12311-016-0799-4

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