姐妹患脆性X相关震颤/共济失调综合征与X染色体失活的相关性  

Fragile X-associated tremor/ataxia syndrome in sisters related to X-inactivation

作　　者：Berry-Kravis E. Potanos K. Weinberg D. 夏峰 

机构地区：[1]Rush University Medical Center, 1725 West Harrison Street, Chicago, IL 60612, United States Dr.

出　　处：《世界核心医学期刊文摘（神经病学分册）》2005年第5期18-18,共1页Digest of the World Core Medical Journals:Clinical Neurology

摘　　要：Fragile X tremor/ataxia syndrome (FXTAS) is a recently described condition co nsisting of tremor, ataxia, parkinsonism, and executive dysfunction, presenting predominantly in male carriers of a fragile X mental retardation 1 premutation. In this report, we present premutation carrier sisters in whom severity of clini cal signs correlated with a molecular pattern of X-inactivation favoring highe r expression of the premutation allele. In these women with a common genetic bac kground, we suggest that symptom severity may be dictated by X-inactivation, a nd thus a higher percentage of cells producing the premutation-containing mRNA result in increased toxicity and disease.Fragile X tremor/ataxia syndrome (FXTAS) is a recently described condition co nsisting of tremor, ataxia, parkinsonism, and executive dysfunction, presenting predominantly in male carriers of a fragile X mental retardation 1 premutation. In this report, we present premutation carrier sisters in whom severity of clini cal signs correlated with a molecular pattern of X-inactivation favoring highe r expression of the premutation allele. In these women with a common genetic bac kground, we suggest that symptom severity may be dictated by X-inactivation, a nd thus a higher percentage of cells producing the premutation-containing mRNA result in increased toxicity and disease.

关 键 词：共济失调综合征 X染色体失活 X相 前突变 精神发育迟缓 携带者 分子模式 震颤麻痹 能力障碍 遗传背景 

分 类 号：R742.5[医药卫生—神经病学与精神病学]