Artículo de revista
Update on the Clinical, Radiographic, and Neurobehavioral Manifestations in FXTAS and FMR1 Premutation Carriers
Fecha
2016Registro en:
Cerebellum. Volumen: 15 Número: 5 Páginas: 578-586 Número especial: SI
10.1007/s12311-016-0799-4
Autor
Hall, Deborah A.
Robertson, Erin
Shelton, Annie L.
Losh, Molly C.
Mila, Montserrat
Granell Moreno, Esther
Gómez Anson, Beatriz
Martínez Cerdeno, Verónica
Grigsby, Jim
Lozano, Reymundo
Hagerman, Randi
Santa María Vásquez, Lorena Ivette
Berry Kravis, Elizabeth
O'Keefe, Joan A.
Institución
Resumen
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.