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首页> 外文期刊>Archives of Neurology >Spinocerebellar ataxia type 3 phenotypically resembling parkinson disease in a black family.
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Spinocerebellar ataxia type 3 phenotypically resembling parkinson disease in a black family.

机译：3型脊髓小脑的共济失调的表型类似帕金森病在一个黑人家庭。

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BACKGROUND: Machado-Joseph disease (MJD), also known as spinocerebellar ataxia type 3 (SCA3), can present with parkinsonism. However, classically, atypical features, including pyramidal and cerebellar signs, peripheral neuropathy, and/or anterior horn cell dysfunction, are also seen. Levodopa responsiveness is unusual in this disorder. OBJECTIVE: To determine the cause of apparent parkinsonism suggestive of Parkinson disease (PD) in a large family of African origin. METHODS: We studied a large family in which apparent autosomal dominant parkinsonism suggestive of PD occurs in order to find the causal genetic mutation. Affected and unaffected family members were screened for the presence of a pathogenic expansion at the MJD/SCA3 locus using a polymerase chain reaction polyacrylamide gel electrophoresis-based assay. RESULTS: Three of the 4 individuals who were examined have a phenotype reminiscent of PD. Specifically, they have at least 2 of the cardinal features, are levodopa responsive, and have no atypical features. All affected family members were shown to possess pathogenic expansions in the MJD/SCA3 gene. CONCLUSIONS: Parkinsonism suggestive of PD due to MJD/SCA3 has not been previously reported, to our knowledge. However, atypical, though also levodopa-responsive, parkinsonism has been previously reported to occur in African American families, suggesting that that this phenotype is associated with African ancestry. In this regard, it is perhaps significant that all the individuals with parkinsonism have relatively low numbers of repeats (normal, 16-34; pathologic, 60-84). In families in which linkage analysis is being performed to determine a locus for autosomal dominant parkinsonism suggestive of PD, evaluation for the MJD/SCA3 mutation is indicated.
机译：背景:Machado-Joseph疾病(MJD)被称为3型脊髓小脑的共济失调(SCA3),可以表现为震颤麻痹。经典,非典型特征,包括锥体和小脑体征,外围神经病变和/或前角细胞功能障碍,也见过。响应性是不寻常的在这个障碍。目的:确定明显的原因帕金森症的帕金森病(PD)在非洲起源的一个大家庭。研究了明显的一个大家庭常染色体显性震颤麻痹PD的暗示为了找到发生因果基因突变。筛选致病的存在吗扩张SCA3 / MJD轨迹时使用聚丙烯酰胺凝胶聚合酶链反应electrophoresis-based化验。检查有4个人表型的PD。至少有2的基本特性是什么左旋多巴反应,没有非典型特性。具有致病性SCA3 / MJD的扩张基因。由于SCA3 / MJD没有先前报道,据我们所知。levodopa-responsive,震颤麻痹此前据报道发生在非裔美国人家庭,这表明这种表型与非洲血统有关。它可能是重要的,所有的帕金森症患者都相对较低数量的重复(正常,16-34;60 - 84)。执行确定的轨迹常染色体显性震颤麻痹PD的暗示,评估SCA3 / MJD基因突变的表示。

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