1.Fragile X-Associated Tremor/Ataxia Syndrome: An Illustrative Case
Chaewon LEE ; Kye Won PARK ; Nari CHOI ; Ho Sung RYU ; Sun Ju CHUNG
Journal of Movement Disorders 2019;12(3):184-186
No abstract available.
Fragile X Tremor Ataxia Syndrome
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Tremor
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Fragile X Syndrome
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Ataxia
2.Fragile X-associated tremor/ataxia syndrome.
Wei-wei HAN ; Lin ZHANG ; Hong JIANG ; Bei-sha TANG
Chinese Journal of Medical Genetics 2011;28(1):52-55
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.
Ataxia
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genetics
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Female
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Fragile X Mental Retardation Protein
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genetics
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Fragile X Syndrome
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complications
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diagnosis
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genetics
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pathology
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Humans
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Male
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Tremor
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genetics