期刊
NEUROBIOLOGY OF DISEASE
卷 136, 期 -, 页码 -出版社
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/j.nbd.2020.104740
关键词
Fragile X syndrome; Fragile X-associated tremor/ataxia syndrome; FXTAS; FMR1 gene; Neuropathology
资金
- NICHD [R01HD036071]
- MIND Institute Intellectual and Developmental Disabilities Research Center - NICHD [U54 HD079125]
- National Institutes of Health [UL1 TR001860]
- National Institute of Neurological Disorders and Stroke (NINDS) [R01 1NS107131]
This review aims to assemble many years of research and clinical experience in the fields of neurodevelopment and neuroscience to present an up-to-date understanding of the clinical presentation, molecular and brain pathology associated with Fragile X syndrome, a neurodevelopmental condition that develops with the full mutation of the FMR1 gene, located in the q27.3 loci of the X chromosome, and Fragile X-associated tremor/ataxia syndrome a neurodegenerative disease experienced by aging premutation carriers of the FMR1 gene. It is important to understand that these two syndromes have a very distinct clinical and pathological presentation while sharing the same origin: the mutation of the FMR1 gene; revealing the complexity of expansion genetics.
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