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

共 50 条

[21] Clinical implications of somatic allele expansion in female FMR1 premutation carriers
Ramkumar Aishworiya
Ye Hyun Hwang
Ellery Santos
Bruce Hayward
Karen Usdin
Blythe Durbin-Johnson
Randi Hagerman
Flora Tassone
Scientific Reports, 13
[22] Fragile X Related Tremor in FMR1 Premutation Women without FXTAS
Hall, D.
Svymbersky, T.
O'Keefe, J.
Ouyang, B.
Berry-Kravis, E.
MOVEMENT DISORDERS, 2023, 38 : S308 - S309
[23] FXTAS in Spanish Patients with Ataxia: Support for Female FMR1 Premutation Screening
Laia Rodriguez-Revenga
Beatriz Gómez-Anson
Esteban Muñoz
Dolores Jiménez
Monica Santos
Mar Tintoré
Gisela Martín
Luis Brieva
Montserrat Milà
Molecular Neurobiology, 2007, 35 : 324 - 328
[24] Carriage of One or Two FMR1 Premutation Alleles Seems to Have No Effect on Illness Severity in a FXTAS Female with an Autozygous FMR1 Premutation Allele
Rodriguez-Revenga, Laia
Pagonabarraga, Javier
Gomez-Anson, Beatriz
Lopez-Mourelo, Olga
Izquierdo, Silvia
Isabel Alvarez-Mora, Maria
Granell, Esther
Madrigal, Irene
Mila, Montserrat
CEREBELLUM, 2016, 15 (05): : 570 - 577
[25] FXTAS in Spanish patients with ataxia:: Support for female FMR1 premutation screening
Rodriguez-Revenga, Laia
Gomez-Anson, Beatriz
Munoz, Esteban
Jimenez, Dolores
Santos, Monica
Tintore, Mar
Martin, Gisela
Brieva, Luis
Mila, Montserrat
MOLECULAR NEUROBIOLOGY, 2007, 35 (03) : 324 - 328
[26] Carriage of One or Two FMR1 Premutation Alleles Seems to Have No Effect on Illness Severity in a FXTAS Female with an Autozygous FMR1 Premutation Allele
Laia Rodriguez-Revenga
Javier Pagonabarraga
Beatriz Gómez-Anson
Olga López-Mourelo
Silvia Izquierdo
Maria Isabel Alvarez-Mora
Esther Granell
Irene Madrigal
Montserrat Milà
The Cerebellum, 2016, 15 : 570 - 577
[27] Fibroblast phenotype in male carriers of FMR1 premutation alleles
Garcia-Arocena, Dolores
Yang, Jane E.
Brouwer, Judith R.
Tassone, Flora
Iwahashi, Christine
Berry-Kravis, Elizabeth M.
Goetz, Christopher G.
Sumis, Allison M.
Zhou, Lili
Nguyen, Danh V.
Campos, Luis
Howell, Erin
Ludwig, Anna
Greco, Claudia
Willemsen, Rob
Hagerman, Randi J.
Hagerman, Paul J.
HUMAN MOLECULAR GENETICS, 2010, 19 (02) : 299 - 312
[28] Is there evidence for neuropsychological and neurobehavioral phenotypes among adults without FXTAS who carry the FMR1 premutation? A review of current literature
Hunter, Jessica Ezzell
Abramowitz, Ann
Rusin, Michele
Sherman, Stephanie L.
GENETICS IN MEDICINE, 2009, 11 (02) : 79 - 89
[29] Phenobarbital use and neurological problems in FMR1 premutation carriers
Saldarriaga, Wilmar
Lein, Pamela
Gonzalez Teshima, Laura Yuriko
Isaza, Carolina
Rosa, Lina
Polyak, Andrew
Hagerman, Randi
Girirajan, Santhosh
Silva, Marisol
Tassone, Flora
NEUROTOXICOLOGY, 2016, 53 : 141 - 147
[30] Sensorimotor and inhibitory control in aging FMR1 premutation carriers
Fielding-Gebhardt, Heather
Kelly, Shannon E.
Unruh, Kathryn E.
Schmitt, Lauren M.
Pulver, Stormi L.
Khemani, Pravin
Mosconi, Matthew W.
FRONTIERS IN HUMAN NEUROSCIENCE, 2023, 17

← 1 2 3 4 5 →