Update on the Clinical, Radiographic, and Neurobehavioral Manifestations in FXTAS and FMR1 Premutation Carriers
Por:
Hall, DA, Robertson, E, Shelton, AL, Losh, MC, Mila, M, Moreno, EG, Gomez-Anson, B, Martinez-Cerdeno, V, Grigsby, J, Lozano, R, Hagerman, R, Maria, LS, Berry-Kravis, E, O'Keefe, JA
Publicada:
1 oct 2016
Resumen:
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.
Filiaciones:
Hall, DA:
Rush Univ, Dept Neurol Sci, Chicago, IL 60612 USA
Robertson, E:
Rush Univ, Acad Facil, Dept Anat & Cell Biol, 600 South Paulina St, Chicago, IL 60612 USA
Shelton, AL:
Monash Univ, Sch Psychol Sci, Melbourne, Vic, Australia
Monash Univ, Monash Inst Cognit & Clin Neurosci, Melbourne, Vic, Australia
Losh, MC:
Northwestern Univ, Roxelyn & Richard Pepper Dept Commun Sci & Disord, Evanston, IL USA
Mila, M:
Hosp Clin Barcelona, IDIBAPS, CIBERER, Serv Bioquim & Genet Mol, Barcelona, Spain
Moreno, EG:
Hosp Santa Creu & Sant Pau, Neuroradiol Unit, Barcelona, Spain
UAB, Hosp St Pau, IIB St Pau, Neuroimaging Res Grp, Barcelona, Spain
Gomez-Anson, B:
Hosp Santa Creu & Sant Pau, Neuroradiol Unit, Barcelona, Spain
UAB, Hosp St Pau, IIB St Pau, Neuroimaging Res Grp, Barcelona, Spain
Univ Autonoma Barcelona, Barcelona, Spain
Martinez-Cerdeno, V:
Univ Calif Davis, Med Ctr, Dept Pathol & Lab Med, Sacramento, CA 95817 USA
Grigsby, J:
Univ Colorado Denver, Dept Med, Aurora, CO USA
Univ Colorado Denver, Dept Psychol, Aurora, CO USA
Lozano, R:
Icahn Sch Med Mt Sinai, Seaver Autism Ctr Res & Treatment, Dept Genet & Genom Sci, New York, NY 10029 USA
Icahn Sch Med Mt Sinai, Seaver Autism Ctr Res & Treatment, Dept Psychiat, New York, NY 10029 USA
Icahn Sch Med Mt Sinai, Seaver Autism Ctr Res & Treatment, Dept Pediat, New York, NY 10029 USA
Hagerman, R:
Univ Calif Davis, Med Ctr, Dept Pediat, Sacramento, CA 95817 USA
Univ Calif Davis, Med Ctr, MIND Inst, Sacramento, CA 95817 USA
Maria, LS:
Univ Chile, Inst Nutr & Food Technol INTA, Cytogenet & Mol Lab, Santiago, Chile
Berry-Kravis, E:
Rush Univ, Dept Neurol Sci, Chicago, IL 60612 USA
Rush Univ, Dept Pediat, Chicago, IL 60612 USA
Rush Univ, Dept Biochem, Chicago, IL 60612 USA
O'Keefe, JA:
Rush Univ, Dept Neurol Sci, Chicago, IL 60612 USA
Rush Univ, Acad Facil, Dept Anat & Cell Biol, 600 South Paulina St, Chicago, IL 60612 USA
Green Accepted
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