期刊
CEREBELLUM
卷 15, 期 5, 页码 578-586出版社
SPRINGER
DOI: 10.1007/s12311-016-0799-4
关键词
FMR1 premutation; Fragile X-associated tremor/ataxia syndrome (FXTAS); Cognition; Neuroimaging; FMR1 genetics
资金
- NIH [GM082773]
- Friedman Brain Institute
- Seaver Faculty Scholar
- Strategic Initiative Review Committee of the University of Colorado School of Medicine
- Australian Postgraduate Award
- National Fragile X Foundation Fellowship award
- Rush Translational Sciences Consortium Award
- [R01NS082416]
- [R01MH091131]
- [R01DC010191]
- [R01HD032071]
- [FIS PI 0770]
- [MH094681]
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.
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