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

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

Authors

Deborah A Hall¹, Erin Robertson², Annie L Shelton³, Molly C Losh⁴, Montserrat Mila⁵, Esther Granell Moreno^{6

7}, Beatriz Gomez-Anson^{6

7

8}, Verónica Martínez-Cerdeño⁹, Jim Grigsby¹⁰, Reymundo Lozano¹¹, Randi Hagerman¹², Lorena Santa Maria¹³, Elizabeth Berry-Kravis^{1

14}, Joan A O'Keefe^{15

16}

Affiliations

¹ Department of Neurological Sciences, Rush University, Chicago, IL, USA.
² Department of Anatomy and Cell Biology, Rush University, 507 Academic Facility, 600 South Paulina Street, Chicago, IL, 60612, USA.
³ School of Psychological Sciences and Monash Institute of Cognitive and Clinical Neurosciences, Monash University, Melbourne, Australia.
⁴ Roxelyn and Richard Pepper Department of Communication Sciences and Disorders, Northwestern University, Evanston, IL, USA.
⁵ Servei de Bioquímica i Genètica Molecular. Hospital Clínic, IDIBAPS, CIBERER, Barcelona, Spain.
⁶ Neuroradiology Unit, Hospital Santa Creu i Sant Pau, Barcelona, Spain.
⁷ Neuroimaging Research Group, Hospital Sant Pau, IIB-Sant Pau, UAB, Barcelona, Spain.
⁸ Universitat Autonoma Barcelona, Barcelona, Spain.
⁹ Department of Pathology and Laboratory Medicine, University of California at Davis Medical Center, Sacramento, CA, USA.
¹⁰ Departments of Medicine and Psychology at the University of Colorado Denver, Aurora, CO, USA.
¹¹ Seaver Autism Center for Research and Treatment, Departments of Genetics and Genomic Sciences, Psychiatry, and Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
¹² Department of Pediatrics & MIND Institute, University of California at Davis Medical Center, Sacramento, CA, USA.
¹³ Cytogenetics and Molecular Laboratory, Institute of Nutrition and Food Technology (INTA), University of Chile, Santiago, Chile.
¹⁴ Departments of Pediatrics and Biochemistry, Rush University, Chicago, IL, USA.
¹⁵ Department of Neurological Sciences, Rush University, Chicago, IL, USA. joan_a_okeefe@rush.edu.
¹⁶ Department of Anatomy and Cell Biology, Rush University, 507 Academic Facility, 600 South Paulina Street, Chicago, IL, 60612, USA. joan_a_okeefe@rush.edu.

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.

Publication types

Review
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't

MeSH terms

Animals
Ataxia / diagnostic imaging*
Ataxia / genetics
Ataxia / physiopathology*
Ataxia / therapy
Congresses as Topic
Fragile X Mental Retardation Protein / genetics*
Fragile X Syndrome / diagnostic imaging*
Fragile X Syndrome / genetics
Fragile X Syndrome / physiopathology*
Fragile X Syndrome / therapy
Heterozygote*
Humans
Phenotype
Tremor / diagnostic imaging*
Tremor / genetics
Tremor / physiopathology*
Tremor / therapy

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

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