Ataxias are rare diseases and the etiologic heterogeneity make individual entities even rarer.There are still substantial numbers of patients who are still poorly understood.Available assessment techniques still point...Ataxias are rare diseases and the etiologic heterogeneity make individual entities even rarer.There are still substantial numbers of patients who are still poorly understood.Available assessment techniques still point to large numbers of patients needed for clinical trials and the need for cooperative efforts,better assessment tools and novel trial designs.Better understanding of neural circuitry abnormalities may lead to more effective symptomatic therapy.Opportunities exist for targeting at risk individuals for effective therapies but how this can be done is not clear.Preventive strategies may become feasible in many ataxias.展开更多
报道1例表现为多系统萎缩小脑型的脊髓小脑性共济失调8型(spinocerebellar ataxia type 8,SCA8)患者。该患者为57岁男性,病程4年,以头晕、共济失调为首发症状,后出现自主神经功能障碍、快速眼动睡眠障碍等表现。神经系统查体提示自主神...报道1例表现为多系统萎缩小脑型的脊髓小脑性共济失调8型(spinocerebellar ataxia type 8,SCA8)患者。该患者为57岁男性,病程4年,以头晕、共济失调为首发症状,后出现自主神经功能障碍、快速眼动睡眠障碍等表现。神经系统查体提示自主神经功能障碍、眼球震颤、构音障碍、共济失调,颅脑核磁共振见脑干、小脑对称性萎缩及脑桥“十字征”。基因检测结果显示ATXN8OS的两个等位基因CTA/CTG重复次数异常增多,确诊为SCA8。治疗上予以改善共济失调、自主神经功能障碍等对症治疗后患者反应良好。SCA8为罕见的运动障碍性疾病,临床异质性高。本报道旨在提示临床医师,SCA8也可表现为自主神经功能障碍、共济失调、脑桥“十字征”等类似多系统萎缩小脑型的特点,临床工作中要避免误诊、漏诊。展开更多
文摘Ataxias are rare diseases and the etiologic heterogeneity make individual entities even rarer.There are still substantial numbers of patients who are still poorly understood.Available assessment techniques still point to large numbers of patients needed for clinical trials and the need for cooperative efforts,better assessment tools and novel trial designs.Better understanding of neural circuitry abnormalities may lead to more effective symptomatic therapy.Opportunities exist for targeting at risk individuals for effective therapies but how this can be done is not clear.Preventive strategies may become feasible in many ataxias.
文摘报道1例表现为多系统萎缩小脑型的脊髓小脑性共济失调8型(spinocerebellar ataxia type 8,SCA8)患者。该患者为57岁男性,病程4年,以头晕、共济失调为首发症状,后出现自主神经功能障碍、快速眼动睡眠障碍等表现。神经系统查体提示自主神经功能障碍、眼球震颤、构音障碍、共济失调,颅脑核磁共振见脑干、小脑对称性萎缩及脑桥“十字征”。基因检测结果显示ATXN8OS的两个等位基因CTA/CTG重复次数异常增多,确诊为SCA8。治疗上予以改善共济失调、自主神经功能障碍等对症治疗后患者反应良好。SCA8为罕见的运动障碍性疾病,临床异质性高。本报道旨在提示临床医师,SCA8也可表现为自主神经功能障碍、共济失调、脑桥“十字征”等类似多系统萎缩小脑型的特点,临床工作中要避免误诊、漏诊。
基金supported by Projects in the National Science and Technology Pillar Program in the Eleventh Five-year Plan Period(2006BAI05A07)National High-Tech Research and Development Program of China(863 Program)(2006AA02A408)+5 种基金Major State Basic Research Development Program of China(973 Program)(2006cb500700)National Key Technologies Research and Development Program of China(2004BA720A03)National Natural Science Foundation of China(30400262,30470619,30710303061,30871354,30971585)New Century Excellent Talents in University of Department of EducationKey Project of Natural Science Foundation of Hunan Province(08JJ3048)Graduate Degree Thesis Innovation Foundation of Central South University(2008yb030)
