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首页> 外文期刊>Journal of neurology >Sporadic late onset paroxysmal cerebellar ataxia in four unrelated patients: a new disease?
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Sporadic late onset paroxysmal cerebellar ataxia in four unrelated patients: a new disease?

机译：四名无关患者的散发性迟发性阵发性小脑共济失调：一种新疾病？

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摘要

We describe a peculiar form of late onset paroxysmal cerebellar ataxia including clinical features similar to episodic ataxia type 2 (EA2) but unresponsive to acetazolamide. Four unrelated patients were clinically investigated. Neuropathological examination was performed in one patient and molecular analysis in all four. All 47 exons of CACNA1A were screened by a combination of single-strand conformer polymorphism and sequencing analysis in three patients. In addition, the length of the CAG repeat was determined in all four patients. The four patients were in their 60s at the onset of the disease, which was characterized by cerebellar ataxia attacks lasting from a few minutes to 1-2 h and occurring mainly in the morning. In the interictal period a nystagmus was present together with a slowly progressive cerebellar ataxia over the years. The neuropathological examination disclosed a dramatic loss of Purkinje cells mainly in the vermis. Moreover, certain cerebellar granular neurons had a strong cytoplasmic staining at immunopathological examination with an anti-tau protein serum. Search for truncating mutations or CAG repeat expansion in CACNA1A was negative. This late-onset paroxysmal cerebellar ataxia with neuropathological lesions restricted to Purkinje cells and with negative results both for truncating mutations and CAG expansion in the CACNA1A gene represents a new entity. Further studies are needed to delineate the underlying process.
机译：我们描述了迟发性阵发性小脑共济失调的一种特殊形式，包括类似于发作性共济失调2型（EA2）的临床特征，但对乙酰唑胺无反应。对四名无关患者进行了临床研究。对一名患者进行了神经病理学检查，对全部四名患者进行了分子分析。通过单链构象多态性和测序分析相结合的方法筛选了3例患者的47个CACNA1A外显子。另外，在所有四名患者中确定了CAG重复的长度。这四名患者在疾病发作时都在60岁左右，其特征是小脑共济失调发作持续时间从几分钟到1-2小时，主要发生在早晨。在发作期中，多年来存在眼球震颤和缓慢进行性小脑共济失调。神经病理学检查显示浦肯野细胞大量损失，主要在the骨。此外，某些小脑颗粒神经元在用抗tau蛋白血清进行免疫病理检查时具有很强的胞质染色。 CACNA1A中的截短突变或CAG重复扩增搜索为阴性。这种迟发性阵发性小脑共济失调的神经病理学损害仅限于Purkinje细胞，并且对于突变突变和CACNA1A基因中的CAG扩展均具有阴性结果，代表了一个新的实体。需要进一步的研究来描述基本过程。

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