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

dc.creatorHall, Deborah A.
dc.creatorRobertson, Erin
dc.creatorShelton, Annie L.
dc.creatorLosh, Molly C.
dc.creatorMila, Montserrat
dc.creatorGranell Moreno, Esther
dc.creatorGómez Anson, Beatriz
dc.creatorMartínez Cerdeno, Verónica
dc.creatorGrigsby, Jim
dc.creatorLozano, Reymundo
dc.creatorHagerman, Randi
dc.creatorSanta María Vásquez, Lorena Ivette
dc.creatorBerry Kravis, Elizabeth
dc.creatorO'Keefe, Joan A.
dc.date.accessioned2017-03-02T14:14:54Z
dc.date.available2017-03-02T14:14:54Z
dc.date.created2017-03-02T14:14:54Z
dc.date.issued2016
dc.identifierCerebellum. Volumen: 15 Número: 5 Páginas: 578-586 Número especial: SI
dc.identifier10.1007/s12311-016-0799-4
dc.identifierhttps://repositorio.uchile.cl/handle/2250/142943
dc.description.abstractFragile 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.
dc.languageen
dc.rightshttp://creativecommons.org/licenses/by-nc-nd/3.0/cl/
dc.rightsAttribution-NonCommercial-NoDerivs 3.0 Chile
dc.sourceCerebellum
dc.subjectFMR1 genetics
dc.subjectNeuroimaging
dc.subjectCognition
dc.subjectFragile X-associated tremor/ataxia syndrome (FXTAS)
dc.subjectFMR1 premutation
dc.titleUpdate on the Clinical, Radiographic, and Neurobehavioral Manifestations in FXTAS and FMR1 Premutation Carriers
dc.typeArtículo de revista


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