Abstract
Fragile X-associated tremor/ataxia syndrome(FXTAS) is a neurodegenerative disease caused by FMR1 gene permutation(PM). The main clinical manifestations are intention tremor and/or ataxia, and the pathogenesis was related to RNA toxicity. In this paper, the research progress of clinical manifestatios, pathological characteristics, epidemiology and molecular mechanisms will be reviewed.
Publication types
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English Abstract
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Research Support, Non-U.S. Gov't
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Review
MeSH terms
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Ataxia / genetics*
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Female
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Fragile X Mental Retardation Protein / genetics
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Fragile X Syndrome / complications
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Fragile X Syndrome / diagnosis
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Fragile X Syndrome / genetics*
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Fragile X Syndrome / pathology
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Humans
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Male
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Tremor / genetics*
Substances
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FMR1 protein, human
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Fragile X Mental Retardation Protein