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

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

doi:10.1007/s12311-016-0799-4

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

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^*

^*Corresponding author for this work

Communication Sciences and Disorders

Research output: Contribution to journal › Article

16 Scopus citations

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.

Original language	English (US)
Pages (from-to)	578-586
Number of pages	9
Journal	Cerebellum
Volume	15
Issue number	5
DOIs	https://doi.org/10.1007/s12311-016-0799-4
State	Published - Oct 1 2016

Keywords

Cognition
FMR1 genetics
FMR1 premutation
Fragile X-associated tremor/ataxia syndrome (FXTAS)
Neuroimaging

ASJC Scopus subject areas

Neurology
Clinical Neurology

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Hall, D. A., Robertson, E., Shelton, A. L., Losh, M. C., Mila, M., Moreno, E. G., Gomez-Anson, B., Martínez-Cerdeño, V., Grigsby, J., Lozano, R., Hagerman, R., Maria, L. S., Berry-Kravis, E., & O’Keefe, J. A. (2016). Update on the Clinical, Radiographic, and Neurobehavioral Manifestations in FXTAS and FMR1 Premutation Carriers. Cerebellum, 15(5), 578-586. https://doi.org/10.1007/s12311-016-0799-4

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. / Update on the Clinical, Radiographic, and Neurobehavioral Manifestations in FXTAS and FMR1 Premutation Carriers. In: Cerebellum. 2016 ; Vol. 15, No. 5. pp. 578-586.

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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.",

keywords = "Cognition, FMR1 genetics, FMR1 premutation, Fragile X-associated tremor/ataxia syndrome (FXTAS), Neuroimaging",

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Hall, DA, Robertson, E, Shelton, AL, Losh, MC, Mila, M, Moreno, EG, Gomez-Anson, B, Martínez-Cerdeño, V, Grigsby, J, Lozano, R, Hagerman, R, Maria, LS, Berry-Kravis, E & O’Keefe, JA 2016, 'Update on the Clinical, Radiographic, and Neurobehavioral Manifestations in FXTAS and FMR1 Premutation Carriers', Cerebellum, vol. 15, no. 5, pp. 578-586. https://doi.org/10.1007/s12311-016-0799-4

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.

In: Cerebellum, Vol. 15, No. 5, 01.10.2016, p. 578-586.

Research output: Contribution to journal › Article

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AU - Moreno, Esther Granell

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AU - Martínez-Cerdeño, Verónica

AU - Grigsby, Jim

AU - Lozano, Reymundo

AU - Hagerman, Randi

AU - Maria, Lorena Santa

AU - Berry-Kravis, Elizabeth

AU - O’Keefe, Joan A.

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