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：

暂无

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

页码：578 / 586

页数：8

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