脊髓小脑性共济失调2型（SCA2）病例分析及文献复习

发布时间：2018-04-24 06:32

本文选题：脊髓小脑性共济失调 + SCA　；参考：《山东大学》2014年硕士论文

【摘要】：背景：脊髓小脑性共济失调(spinocerebellar ataxia,SCA)是一类具有高度临床和遗传异质性的疾病,为单基因神经系统变性疾病,属于常染色体显性遗传的小脑性共济失调。SCA主要表现为平衡及协调能力进行性恶化等临床症状。脊髓小脑性共济失调2型(SCA2)约占全部SCA的15%,是由于(CAG)n重复序列异常扩增导致编码的蛋白质中PolyQ (polglutamine,多聚谷氨酰胺)异常延伸扩展而产生致病蛋白引起。典型的临床表现为共济失调、眼球慢扫视、构音障碍、周围神经病和锥体外系症状,常伴有智能障碍。因为SCA临床表现复杂,分子诊断为其重要的诊断手段。但分子诊断未普遍应用,以及对该类疾病认识的不足,使得SCA的误诊率较高。本文对2个误诊病例进行分析,总结SCA2的临床特点及误诊的原因,复习文献并补充临床上应该注意的鉴别诊断。目的：通过对2例误诊为颈腰椎退行性疾病的SCA2患者病例的分析,探讨SCA2的临床特点,分析分子生物学诊断技术在现代神经医学临床诊断中的价值、为准确的临床诊断及最优化治疗提供理论依据。方法：回顾性分析此2例被误诊为颈腰椎退行性疾病的散发的SCA2患者的临床资料、实验室、影像学、基因检查结果和治疗,应用共济失调等级量表等方法评估患者治疗前后症状的改善情况,并总结和探讨脊髓小脑共济失调的临床诊断思路。结果：2例患者均为中年发病,以双膝关节或双下肢无力为首发症状,1年之内进行性加重,按颈椎病/腰椎病、周围神经病变治疗效果差,逐渐出现共济失调症状。颅脑MRI示小脑萎缩。对2例患者进行基因检测,符合SCA2诊断。给予改善线粒体功能、促脑代谢药物治疗后,SARA、MMSE、MoCA等相关量表较前改善。结论：脊髓小脑性共济失调类疾病临床表现复杂多样,可有小脑和非小脑的症状,临床上易误诊为颈腰椎退行性疾病。提示准确的临床诊断是治疗的根本。影像学检查若有小脑萎缩,需进一步检查排除SCA。给与丁苯酞、艾地苯醌或者辅酶Q10等抗氧化治疗能改善患者的部分临床症状。
[Abstract]:Background: spinocerebellar ataxia (SCA) is a disease with high clinical and genetic heterogeneity. It is a monogenic neurodegenerative disease. Cerebellar ataxia, which belongs to autosomal dominant inheritance, is characterized by progressive deterioration of balance and coordination ability. Spinal cerebellar ataxia type 2 (SCA2) accounts for about 15% of all SCA, which is caused by abnormal expansion of PolyQ polglutamine (polyglutamine) in the encoded protein. Typical clinical manifestations include ataxia, slow eye scan, dysarthria, peripheral neuropathy and extrapyramidal symptoms, often accompanied by mental disorders. Because of the complex clinical manifestations of SCA, molecular diagnosis is an important diagnostic method. However, the misdiagnosis rate of SCA is high due to the lack of general application of molecular diagnosis and insufficient understanding of this kind of disease. In this paper, two misdiagnosed cases were analyzed, the clinical characteristics and causes of misdiagnosis of SCA2 were summarized, the literature was reviewed and the differential diagnosis should be paid attention to. Objective: to investigate the clinical characteristics of SCA2 and to analyze the value of molecular biological diagnostic technique in the clinical diagnosis of modern neuromedicine through the analysis of 2 cases of SCA2 misdiagnosed as cervical and lumbar degenerative diseases. To provide theoretical basis for accurate clinical diagnosis and optimal treatment. Methods: the clinical data, laboratory, imaging, gene examination and treatment of 2 patients with sporadic SCA2 misdiagnosed as cervical and lumbar degenerative diseases were retrospectively analyzed. The clinical diagnosis of spinal cerebellar ataxia was summarized and discussed by using ataxia scale and other methods to evaluate the improvement of patients' symptoms before and after treatment. Results both of the two patients were middle-aged, with bilateral knee or lower extremity weakness as the first symptom, progressive aggravation within 1 year. The treatment effect of peripheral neuropathy was poor according to cervical spondylopathy / lumbar spondylosis, and ataxia appeared gradually. Brain MRI showed cerebellar atrophy. Gene detection was performed in 2 patients, which was in accordance with the diagnosis of SCA2. The improvement of mitochondrial function and the improvement of MMSEMoCA and other related scales after drug therapy were improved. Conclusion: the clinical manifestations of spinal cerebellar ataxia are complex and varied, which may have the symptoms of cerebellum and non-cerebellum and are easily misdiagnosed as cervical and lumbar degenerative diseases. It suggests that accurate clinical diagnosis is the basis of treatment. In case of cerebellar atrophy, further examination is needed to exclude SCA. Anti-oxidation therapy such as butyphthalide, idibenzoquinone or coenzyme Q 10 can improve some clinical symptoms.
【学位授予单位】：山东大学
【学位级别】：硕士
【学位授予年份】：2014
【分类号】：R744.7

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