脆性X相关震颤共济失调综合征（FXTAS）及相关神经问题的治疗。
Treatment of fragile X-associated tremor ataxia syndrome (FXTAS) and related neurological problems.
作者信息
Hagerman Randi J, Hall Deborah A, Coffey Sarah, Leehey Maureen, Bourgeois James, Gould John, Zhang Lin, Seritan Andreea, Berry-Kravis Elizabeth, Olichney John, Miller Joshua W, Fong Amy L, Carpenter Randall, Bodine Cathy, Gane Louise W, Rainin Edgar, Hagerman Hillary, Hagerman Paul J
机构信息
MIND Institute, University of California, Davis, School of Medicine, Sacramento, CA 95817, USA.
出版信息
Clin Interv Aging. 2008;3(2):251-62. doi: 10.2147/cia.s1794.
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a progressive neurological disorder that affects older adult carriers, predominantly males, of premutation alleles (55 to 200 CGG repeats) of the fragile X (FMR1) gene. Principal features of FXTAS are intention tremor, ataxia, parkinsonism, cognitive decline, and peripheral neuropathy; ancillary features include, autonomic dysfunction, and psychiatric symptoms of anxiety, depression, and disinhibition. Although controlled trials have not been carried out in individuals with FXTAS, there is a significant amount of anecdotal information regarding various treatment modalities. Moreover, there exists a great deal of evidence regarding the efficacy of various medications for treatment of other disorders (eg, Alzheimer disease) that have substantial phenotypic overlap with FXTAS. The current review summarizes what is currently known regarding the symptomatic treatment, or potential for treatment, of FXTAS.
脆性X染色体相关震颤/共济失调综合征（FXTAS）是一种进行性神经疾病，影响脆性X（FMR1）基因前突变等位基因（55至200个CGG重复序列）的老年携带者，主要为男性。FXTAS的主要特征是意向性震颤、共济失调、帕金森综合征、认知衰退和周围神经病变；辅助特征包括自主神经功能障碍以及焦虑、抑郁和脱抑制等精神症状。虽然尚未在FXTAS患者中进行对照试验，但有大量关于各种治疗方式的轶事性信息。此外，有大量证据表明各种药物对治疗与FXTAS有大量表型重叠的其他疾病（如阿尔茨海默病）有效。本综述总结了目前已知的关于FXTAS症状治疗或治疗潜力的信息。
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