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

[1] Update on the Clinical, Radiographic, and Neurobehavioral Manifestations in FXTAS and FMR1 Premutation Carriers
Hall, Deborah A.
Robertson, Erin
Shelton, Annie L.
Losh, Molly C.
Mila, Montserrat
Granell Moreno, Esther
Gomez-Anson, Beatriz
Martinez-Cerdeno, Veronica
Grigsby, Jim
Lozano, Reymundo
Hagerman, Randi
Santa Maria, Lorena
Berry-Kravis, Elizabeth
O'Keefe, Joan A.
CEREBELLUM, 2016, 15 (05): : 578 - 586
[2] Frequency of the MCP sign in FMR1 premutation carriers and FXTAS
Leehey, M. A.
Rubinstein, D.
Brega, A. G.
Hall, D.
Tassone, F.
Zhang, L.
Hagerman, R.
Hagerman, P. J.
Grigsby, J.
MOVEMENT DISORDERS, 2007, 22 : S11 - S11
[3] Cerebellar Mild Iron Accumulation in a Subset of FMR1 Premutation Carriers with FXTAS
Rogers, Hailee
Ariza, Jeanelle
Monterrubio, Angela
Hagerman, Paul
Martinez-Cerdeno, Veronica
CEREBELLUM, 2016, 15 (05): : 641 - 644
[4] Cerebellar Mild Iron Accumulation in a Subset of FMR1 Premutation Carriers with FXTAS
Hailee Rogers
Jeanelle Ariza
Angela Monterrubio
Paul Hagerman
Verónica Martínez-Cerdeño
The Cerebellum, 2016, 15 : 641 - 644
[5] FMR1 premutation as a rare cause of late onset ataxiaEvidence for FXTAS in female carriers
Ch. Zühlke
A. Budnik
U. Gehlken
A. Dalski
S. Purmann
M. Naumann
M. Schmidt
K. Bürk
E. Schwinger
Journal of Neurology, 2004, 251 : 1418 - 1419
[6] Dystonia in FMR1 Premutation Carriers
Vaughan, Christina
Ouyang, Bichun
Goetz, Christopher
Berry-Kravis, Elizabeth
Hagerman, Randi
Leehey, Maureen
Hall, Deborah
NEUROLOGY, 2012, 78
[7] Dystonia in FMR1 premutation carriers
Vaughan, C. L.
Ouyang, B.
Goetz, C. G.
Berry-Kravis, E. M.
Hagerman, R. J.
Leehey, M. A.
Hall, D. A.
MOVEMENT DISORDERS, 2012, 27 : S369 - S369
[8] Familial occurrence of FXTAS caused by premutation in the FMR1 gene
Koziorowski, Dariusz
Rajkiewicz, Marta
Sulek-Piatkowska, Anna
Zarembo, Jacek
Kaca-Orynska, Malgorzata
Mandat, Tomasz
Friedman, Andrzej
NEUROLOGIA I NEUROCHIRURGIA POLSKA, 2011, 45 (04) : 391 - 396
[9] Executive dysfunction in young FMR1 premutation carriers Forme fruste of FXTAS or new phenotype?
Berry-Kravis, Elizabeth
Hall, Deborah A.
NEUROLOGY, 2011, 77 (07) : 612 - 613
[10] FMR1 premutation as a rare cause of late onset ataxia -: Evidence for FXTAS in female carriers
Zühlke, C
Budnik, A
Gehlken, U
Dalski, A
Purmann, S
Naumann, M
Schmidt, M
Bürk, K
Schwinger, E
JOURNAL OF NEUROLOGY, 2004, 251 (11) : 1418 - 1419

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