- Main
Update on the Clinical, Radiographic, and Neurobehavioral Manifestations in FXTAS and FMR1 Premutation Carriers
- 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
Published Web Location
https://doi.org/10.1007/s12311-016-0799-4Abstract
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.
Many UC-authored scholarly publications are freely available on this site because of the UC's open access policies. Let us know how this access is important for you.