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Review
. 2016 Oct;15(5):578-86.
doi: 10.1007/s12311-016-0799-4.

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

Deborah A Hall  1 , Erin Robertson  2 , Annie L Shelton  3 , Molly C Losh  4 , Montserrat Mila  5 , Esther Granell Moreno  6   7 , Beatriz Gomez-Anson  6   7   8 , Verónica Martínez-Cerdeño  9 , Jim Grigsby  10 , Reymundo Lozano  11 , Randi Hagerman  12 , Lorena Santa Maria  13 , Elizabeth Berry-Kravis  1   14 , Joan A O'Keefe  15   16
Affiliations
Review

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

Deborah A Hall et al. Cerebellum. 2016 Oct.

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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Conflict of interest statement

Conflict of Interests 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.

Figures

Fig. 1
Fig. 1
Illustration of the fragile X mental retardation 1 (FMR1) gene
Fig. 2
Fig. 2
Summary of expanded fragile X-associated tremor/ataxia syndrome (FXTAS) and premutation phenotypes. PSP progressive supranuclear gaze palsy; FMR1 fragile X mental retardation 1 gene; PC premutation carrier; BAP broad autism phenotype; AR activation ratio; MCP middle cerebellar peduncles. Asterisk indicates that this study was conducted in individuals with normal FMR1 repeat size
See this image and copyright information in PMC

References

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