本文選題：脊髓小腦性共濟(jì)失調(diào) + SCA　； 參考：《山東大學(xué)》2014年碩士論文

【摘要】：背景：脊髓小腦性共濟(jì)失調(diào)(spinocerebellar ataxia,SCA)是一類具有高度臨床和遺傳異質(zhì)性的疾病,為單基因神經(jīng)系統(tǒng)變性疾病,屬于常染色體顯性遺傳的小腦性共濟(jì)失調(diào)。SCA主要表現(xiàn)為平衡及協(xié)調(diào)能力進(jìn)行性惡化等臨床癥狀。脊髓小腦性共濟(jì)失調(diào)2型(SCA2)約占全部SCA的15%,是由于(CAG)n重復(fù)序列異常擴(kuò)增導(dǎo)致編碼的蛋白質(zhì)中PolyQ (polglutamine,多聚谷氨酰胺)異常延伸擴(kuò)展而產(chǎn)生致病蛋白引起。典型的臨床表現(xiàn)為共濟(jì)失調(diào)、眼球慢掃視、構(gòu)音障礙、周圍神經(jīng)病和錐體外系癥狀,常伴有智能障礙。因?yàn)镾CA臨床表現(xiàn)復(fù)雜,分子診斷為其重要的診斷手段。但分子診斷未普遍應(yīng)用,以及對該類疾病認(rèn)識的不足,使得SCA的誤診率較高。本文對2個(gè)誤診病例進(jìn)行分析,總結(jié)SCA2的臨床特點(diǎn)及誤診的原因,復(fù)習(xí)文獻(xiàn)并補(bǔ)充臨床上應(yīng)該注意的鑒別診斷。 目的：通過對2例誤診為頸腰椎退行性疾病的SCA2患者病例的分析,探討SCA2的臨床特點(diǎn),分析分子生物學(xué)診斷技術(shù)在現(xiàn)代神經(jīng)醫(yī)學(xué)臨床診斷中的價(jià)值、為準(zhǔn)確的臨床診斷及最優(yōu)化治療提供理論依據(jù)。 方法：回顧性分析此2例被誤診為頸腰椎退行性疾病的散發(fā)的SCA2患者的臨床資料、實(shí)驗(yàn)室、影像學(xué)、基因檢查結(jié)果和治療,應(yīng)用共濟(jì)失調(diào)等級量表等方法評估患者治療前后癥狀的改善情況,并總結(jié)和探討脊髓小腦共濟(jì)失調(diào)的臨床診斷思路。 結(jié)果：2例患者均為中年發(fā)病,以雙膝關(guān)節(jié)或雙下肢無力為首發(fā)癥狀,1年之內(nèi)進(jìn)行性加重,按頸椎病/腰椎病、周圍神經(jīng)病變治療效果差,逐漸出現(xiàn)共濟(jì)失調(diào)癥狀。顱腦MRI示小腦萎縮。對2例患者進(jìn)行基因檢測,符合SCA2診斷。給予改善線粒體功能、促腦代謝藥物治療后,SARA、MMSE、MoCA等相關(guān)量表較前改善。 結(jié)論：脊髓小腦性共濟(jì)失調(diào)類疾病臨床表現(xiàn)復(fù)雜多樣,可有小腦和非小腦的癥狀,臨床上易誤診為頸腰椎退行性疾病。提示準(zhǔn)確的臨床診斷是治療的根本。影像學(xué)檢查若有小腦萎縮,需進(jìn)一步檢查排除SCA。給與丁苯酞、艾地苯醌或者輔酶Q10等抗氧化治療能改善患者的部分臨床癥狀。
[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.
【學(xué)位授予單位】：山東大學(xué)
【學(xué)位級別】：碩士
【學(xué)位授予年份】：2014
【分類號】：R744.7

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