本文選題：脊髓小腦性共濟(jì)失調(diào) + 基因�。� 參考：《重慶醫(yī)科大學(xué)》2014年碩士論文

【摘要】：目的：通過(guò)調(diào)查重慶地區(qū)臨床診斷為脊髓小腦性共濟(jì)失調(diào)的家系及散發(fā)患者，了解該地區(qū)脊髓小腦性共濟(jì)失調(diào)的基因分型及臨床表現(xiàn)。 方法：1.召集2011年1月至2013年12月于重慶醫(yī)科大學(xué)附屬第一醫(yī)院、附屬第二醫(yī)院神經(jīng)內(nèi)科就診，并診斷為SCAs的10個(gè)家系中19例患者及28例血親，同時(shí)召集9例散發(fā)患者。繪制SCAs家系患者的家系圖。對(duì)所有受試者進(jìn)行詳細(xì)的神經(jīng)系統(tǒng)查體。部分患者行腦部磁共振檢查。2.取外周靜脈血提取基因組，使用聚合酶鏈反應(yīng)法（Polymerase Chain Reaction，PCR）對(duì)所有受試者SCA1、SCA2、SCA3、SCA6、SCA7、SCA12、SCA17及RPLA基因進(jìn)行擴(kuò)增及DNA直接測(cè)序。3.結(jié)合臨床及影像資料對(duì)重慶地區(qū)SCA3患者進(jìn)行分析。 結(jié)果：1.本研究中10個(gè)SCAs家系中有8個(gè)SCA3家系，另2個(gè)家系及9例散發(fā)患者未能明確分型，未發(fā)現(xiàn)SCA1、SCA2、SCA6、SCA7、SCA12、SCA17及DRPLA亞型。2.正常對(duì)照組ATXN3基因CAG重復(fù)次數(shù)為8-39次，15例SCA3患者ATXN3基因CAG重復(fù)次數(shù)為58-71次，7例癥狀前患者ATXN3基因CAG重復(fù)次數(shù)為56-71次。子代CAG重復(fù)次數(shù)較親代有增加趨勢(shì)，在父系遺傳中更突出。3. SCA3患者臨床表現(xiàn)復(fù)雜，主要表現(xiàn)為共濟(jì)失調(diào)及構(gòu)音障礙，平均發(fā)病年齡為49.6±5.6歲，存在明顯的遺傳早現(xiàn)現(xiàn)象，且在父系遺傳中尤為突出。4. SCA3患者大腦萎縮不明顯，，主要表現(xiàn)幕下腦萎縮，并以小腦蚓部尤為明顯。腦干萎縮程度與病程正相關(guān)，病程越長(zhǎng)，萎縮越明顯。 結(jié)論：重慶地區(qū)的SCAs主要為SCA3型，與我國(guó)其他地區(qū)的報(bào)道一致。主要表現(xiàn)為共濟(jì)失調(diào)及構(gòu)音障礙，具有典型的臨床異質(zhì)性及遺傳早現(xiàn)，且遺傳早現(xiàn)在父系遺傳中尤為突出，腦部影像學(xué)表現(xiàn)為幕下腦萎縮。臨床表現(xiàn)及影像學(xué)表現(xiàn)為診斷本病提供重要依據(jù)，基因檢測(cè)是目前確診本病的唯一方法。
[Abstract]:Objective: to investigate the genotyping and clinical manifestations of spinal cerebellar ataxia in Chongqing area by investigating the families and sporadic patients who were clinically diagnosed as spinal cerebellar ataxia. Method 1: 1. From January 2011 to December 2013, 19 patients and 28 blood relatives of 10 families of the first affiliated Hospital of Chongqing Medical University and the second affiliated Hospital of Chongqing Medical University were invited to visit the Department of Neurology, and 9 sporadic patients were called together at the same time. Draw up the pedigree map of the patients in the family of scas. All subjects were given a detailed neurological examination. Some patients underwent brain magnetic resonance imaging. 2. 2. The genomic DNA was extracted from peripheral venous blood. The SCA1, SCA2, SCA3, SCA7, SCA12, SCA17 and RPLA genes were amplified by polymerase chain reaction (PCR) and the DNA was directly sequenced. 3. Combined with clinical and imaging data, SCA 3 patients in Chongqing area were analyzed. The result is 1: 1. In this study, there were 8 SCA3 families in 10 SCAs families, 2 families and 9 sporadic patients were not clearly classified, and no SCA1, SCA2, SCA6, SCA7, SCA12, SCA17 and DRPLA subtype. 2 were found in SCA1, SCA2, SCA6, SCA7, SCA12, SCA17 and DRPLA subtypes. The number of CAG repeats of ATXN3 gene in 15 patients with SCA3 was 58-71 times and the number of CAG repeats of ATXN3 gene was 56-71 times in 7 presymptomatic patients. The number of repeat of CAG in progeny was higher than that of parents, and it was more prominent in patrilineal inheritance. The clinical manifestations of SCA3 patients were complex, mainly ataxia and dysarthria. The average onset age was 49.6 鹵5.6 years old. There was an obvious genetic preexisting phenomenon in SCA3 patients, especially in patrilineal inheritance. The cerebral atrophy was not obvious in SCA 3 patients, especially in cerebellar vermis. The degree of brain stem atrophy was positively correlated with the course of disease, and the longer the course, the more obvious the atrophy. Conclusion: the main type of scas in Chongqing is SCA 3, which is consistent with the reports in other regions of China. The main manifestations are ataxia and dysarthria, with typical clinical heterogeneity and early genetic appearance, especially in patriarchal heredity. The brain imaging manifestations are subtentorial brain atrophy. Clinical manifestations and imaging findings provide important basis for the diagnosis of this disease, gene detection is the only way to diagnose the disease.
【學(xué)位授予單位】：重慶醫(yī)科大學(xué)
【學(xué)位級(jí)別】：碩士
【學(xué)位授予年份】：2014
【分類號(hào)】：R744.7

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