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

Deborah A. Hall,Erin Robertson,Annie L. Shelton,Molly Losh,Montserrat Milà,Enric Marco Granell,Beatriz Gómez‐Anson,Verónica Martínez‐Cerdeño,Jim Grigsby,Reymundo Lozano,Randi J. Hagerman,Lorena Santa María,Elizabeth Berry‐Kravis,Joan A. O’Keefe

FMR1

Ataxia

Penetrance

2016

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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“Update on the Clinical, Radiographic, and Neurobehavioral Manifestations in FXTAS and FMR1 Premutation Carriers” is a paper by Deborah A. Hall Erin Robertson Annie L. Shelton Molly Losh Montserrat Milà Enric Marco Granell Beatriz Gómez‐Anson Verónica Martínez‐Cerdeño Jim Grigsby Reymundo Lozano Randi J. Hagerman Lorena Santa María Elizabeth Berry‐Kravis Joan A. O’Keefe published in 2016. It has an Open Access status of “green”. You can read and download a PDF Full Text of this paper here.