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

被引：0
|
作者：
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
机构：
[1] Rush University,Department of Neurological Sciences
[2] Rush University,Department of Anatomy and Cell Biology
[3] Monash University,School of Psychological Sciences and Monash Institute of Cognitive and Clinical Neurosciences
[4] Northwestern University,Roxelyn and Richard Pepper Department of Communication Sciences and Disorders
[5] Servei de Bioquímica i Genètica Molecular. Hospital Clínic,Neuroradiology Unit
[6] IDIBAPS,Neuroimaging Research Group
[7] CIBERER,Department of Pathology and Laboratory Medicine
[8] Hospital Santa Creu i Sant Pau,Seaver Autism Center for Research and Treatment, Departments of Genetics and Genomic Sciences, Psychiatry, and Pediatrics
[9] Hospital Sant Pau,Department of Pediatrics & MIND Institute
[10] IIB-Sant Pau,Cytogenetics and Molecular Laboratory, Institute of Nutrition and Food Technology (INTA)
[11] UAB,Departments of Pediatrics and Biochemistry
[12] Universitat Autonoma Barcelona,undefined
[13] University of California at Davis Medical Center,undefined
[14] Departments of Medicine and Psychology at the University of Colorado Denver,undefined
[15] Icahn School of Medicine at Mount Sinai,undefined
[16] University of California at Davis Medical Center,undefined
[17] University of Chile,undefined
[18] Rush University,undefined
来源：
The Cerebellum | 2016年 / 15卷
关键词：
premutation; Fragile X-associated tremor/ataxia syndrome (FXTAS); Cognition; Neuroimaging; genetics;
D O I：
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中图分类号：
学科分类号：
摘要：
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.
引用
收藏
页码：578 / 586
页数：8
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