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 › peer-review

38 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

Funding

We sincerely thank our premutation carrier and control participants. This work was supported by the following: R01NS082416 (DH); R01MH091131 and R01DC010191 (ML); R01HD032071 (RH); FIS PI 0770 (BGA); NIH (GM082773), Friedman Brain Institute, and Seaver Faculty Scholar (RL); MH094681 (VMC); Strategic Initiative Review Committee of the University of Colorado School of Medicine (JG); Australian Postgraduate Award (ALS); National Fragile X Foundation Fellowship award (ER); and Rush Translational Sciences Consortium Award (JO). Randi Hagerman has received funding from Novartis, Roche, Neuren, and Alcobra for treatment trials in fragile X syndrome (FXS). She has also consulted with Roche/Genentech, Alcobra and Novartis regarding treatment trials in FXS. Elizabeth Berry-Kravis has received funding from Neuren and Alcobra to carry out treatment studies in patients with FXS. She has also received funding from Vtesse to carry out a clinical trial in Niemann-Pick type C. She has also consulted with Neuren, Alcobra, and Neurotrope regarding treatment studies in patients with FXS. Deborah Hall has received research funds from NINDS, Shapiro Foundation, National Parkinson Disease Foundation, Pfizer, and Neurocrine. Dr. Lozano has consulted for Ambry genetics, Courtagen and ClearView Healthcare Partners. The authors declare that they have no conflict of interest.

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

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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.",

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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

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

Abstract

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ASJC Scopus subject areas

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