Update on the Clinical, Radiographic, and Neurobehavioral Manifestations in FXTAS and FMR1 Premutation Carriers.
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.
Department of Neurological Sciences, Rush University, Chicago, IL, USA.
Deborah A
DA
Hall
Department of Anatomy and Cell Biology, Rush University, 507 Academic Facility, 600 South Paulina Street, Chicago, IL, 60612, USA.
Erin
E
Robertson
School of Psychological Sciences and Monash Institute of Cognitive and Clinical Neurosciences, Monash University, Melbourne, Australia.
Annie L
AL
Shelton
Roxelyn and Richard Pepper Department of Communication Sciences and Disorders, Northwestern University, Evanston, IL, USA.
Molly C
MC
Losh
Servei de Bioquímica i Genètica Molecular. Hospital Clínic, IDIBAPS, CIBERER, Barcelona, Spain.
Montserrat
M
Mila
Neuroradiology Unit, Hospital Santa Creu i Sant Pau, Barcelona, Spain.|Neuroimaging Research Group, Hospital Sant Pau, IIB-Sant Pau, UAB, Barcelona, Spain.
Esther Granell
EG
Moreno
Neuroradiology Unit, Hospital Santa Creu i Sant Pau, Barcelona, Spain.|Neuroimaging Research Group, Hospital Sant Pau, IIB-Sant Pau, UAB, Barcelona, Spain.|Universitat Autonoma Barcelona, Barcelona, Spain.
Beatriz
B
Gomez-Anson
Department of Pathology and Laboratory Medicine, University of California at Davis Medical Center, Sacramento, CA, USA.
Verónica
V
Martínez-Cerdeño
Departments of Medicine and Psychology at the University of Colorado Denver, Aurora, CO, USA.
Jim
J
Grigsby
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.
Reymundo
R
Lozano
Department of Pediatrics & MIND Institute, University of California at Davis Medical Center, Sacramento, CA, USA.
Randi
R
Hagerman
Cytogenetics and Molecular Laboratory, Institute of Nutrition and Food Technology (INTA), University of Chile, Santiago, Chile.
Lorena Santa
LS
Maria
Department of Neurological Sciences, Rush University, Chicago, IL, USA.|Departments of Pediatrics and Biochemistry, Rush University, Chicago, IL, USA.
Elizabeth
E
Berry-Kravis
Department of Neurological Sciences, Rush University, Chicago, IL, USA. joan_a_okeefe@rush.edu.|Department of Anatomy and Cell Biology, Rush University, 507 Academic Facility, 600 South Paulina Street, Chicago, IL, 60612, USA. joan_a_okeefe@rush.edu.
Joan A
JA
O'Keefe
D000818:Animals; D001259:Ataxia / Q000000981:diagnostic imaging* / Q000235:genetics / Q000503:physiopathology* / Q000628:therapy; D003226:Congresses as Topic; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics*; D005600:Fragile X Syndrome / Q000000981:diagnostic imaging* / Q000235:genetics / Q000503:physiopathology* / Q000628:therapy; D006579:Heterozygote; D006801:Humans; D010641:Phenotype; D014202:Tremor / Q000000981:diagnostic imaging* / Q000235:genetics / Q000503:physiopathology* / Q000628:therapy
D051860:Fragile X Messenger Ribonucleoprotein 1; C497683:FMR1 protein, human
Cognition; FMR1 genetics; FMR1 premutation; Fragile X-associated tremor/ataxia syndrome (FXTAS); Neuroimaging