PDF(Pubmed)
Abstract：
Neurologists have a difficult time identifying sporadic cerebellar ataxia. Multiple system atrophy of the cerebellar type (MSA-C), spontaneous late cortical cerebellar atrophy, and prolonged alcohol use are a few possible causes. In a group of people with sporadic cerebellar ataxia that was not MSA-C, an autosomal-dominant spinocerebellar ataxia (SCA) mutation was recently discovered. Chinese single-hospital cohort will be used in this study to genetic screen for SCA-related genes. One hundred forty individuals with CA were monitored over 8 years. Thirty-one individuals had familial CA, 109 patients had sporadic CA, 73 had MSA-C, and 36 had non-MSA-C sporadic CA. In 28 of the 31 non-MSA-C sporadic patients who requested the test, we carried out gene analysis, including SCA1, SCA2, SCA3, SCA6, SCA7, SCA8, SCA12, SCA17, SCA31, and dentatorubro-pallidoluysian atrophy (DRPLA). The control group consisted of family members of the patients. In 57% of the instances with spontaneous CA that were not MSA-C, gene abnormalities were discovered. The most frequent exception among individuals with sporadic CA was SCA6 (36%), followed by monsters in SCA1, 2, 3, 8, and DRPLA. In contrast, 75% of the patients with familial CA had gene abnormalities, the most frequent of which was SCA6 abnormality. The age of 69 vs 59 was higher, and the CAG repeat length was a minor age of 23 vs 25 in the former instances compared to the last one among individuals with SCA6 anomalies that were sporadic as opposed to familial cases. In sporadic CA, autosomal-dominant mutations in SCA genes, notably in SCA6, are common. Although the cause of the increased incidence of SCA6 mutations is unknown, it may be related to a greater age of onset and varied penetrance of SCA6 mutations.
摘要：
神经学家很难识别散发性小脑共济失调。小脑型多系统萎缩（MSA-C），自发性晚期皮质小脑萎缩，和长时间饮酒是几个可能的原因。在一群不是MSA-C的偶发性小脑共济失调患者中，最近发现了一种常染色体显性遗传脊髓小脑共济失调(SCA)突变.中国单医院队列将在这项研究中用于SCA相关基因的遗传筛选。在8年内监测了一百四十名CA患者。31个人患有家族性CA，109例患者有散发性CA，73有MSA-C，36例有非MSA-C散发性CA。在31例非MSA-C散发性患者中，有28例要求进行测试，我们进行了基因分析，包括SCA1，SCA2，SCA3，SCA6，SCA7，SCA8，SCA12，SCA17，SCA31和牙髓鞘萎缩（DRPLA）。对照组由患者家属组成。在57％的自发CA不是MSA-C的情况下，基因异常被发现。散发性CA患者中最常见的例外是SCA6（36％），其次是SCA1、2、3、8和DRPLA中的怪物。相比之下,75%的家族性CA患者存在基因异常，其中最常见的是SCA6异常.69岁比59岁更高，CAG重复长度为23岁，而前者为25岁，而SCA6异常是散发性而不是家族性病例。在零星的CA中，SCA基因中的常染色体显性突变，特别是在SCA6中，很常见。尽管SCA6突变发生率增加的原因尚不清楚，这可能与更大的发病年龄和SCA6突变的外显率有关。
