Gosalakkal Jayaprakash A, Swamy Puttamadaiah Mallikarjuna
Paediatric Neurology, University Hospitals of Leicester, Leicester, United Kingdom.
Pediatr Neurol. 2006 Apr;34(4):301-2. doi: 10.1016/j.pediatrneurol.2005.08.022.
Spinocerebellar ataxia type 6 is one of the hereditary progressive cerebellar ataxias first described in 1997. Genetic studies have identified the defect as abnormal expansion of CAG trinucleotide repeat in 1 alpha subunit of the calcium channel gene located on chromosome 19p13. The symptomatic individuals have 20 or 23 repeats in contrast to normal individuals who manifest 19 or less CAG repeats. Most of the earlier reports indicate the age of onset of symptoms to be after the third decade. This report presents a patient with episodic symptoms soon after birth, which is unusual, and to our knowledge this is the youngest reported case. The clinical features of spinocerebellar ataxia type 6 are variable. The mode of inheritance and the common symptoms of this condition are also discussed.
6型脊髓小脑共济失调是1997年首次描述的遗传性进行性小脑共济失调之一。基因研究已确定缺陷在于位于19号染色体p13上的钙通道基因1α亚基中的CAG三核苷酸重复序列异常扩增。有症状的个体有20或23次重复，而正常个体表现为19次或更少的CAG重复。大多数早期报告表明症状发作年龄在30岁之后。本报告介绍了一名出生后不久即出现发作性症状的患者，这很不寻常，据我们所知，这是报告的最年轻病例。6型脊髓小脑共济失调的临床特征各不相同。本文还讨论了这种疾病的遗传方式和常见症状。
