A clinical and genetic study in a large cohort of patients with spinocerebellar ataxia type 6
A clinical and genetic study in a large cohort of patients with spinocerebellar ataxia type 6
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DOI：
10.1007/s10038-004-0142-7
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发表时间：
2004-05-01
影响因子：
3.5
通讯作者：
Mizusawa, H
中科院分区：
文献类型：
--
作者：
Takahashi, H;Ishikawa, K;Mizusawa, H
为了阐明SCA6的临床和遗传学特征，我们回顾性分析了140例患者。我们观察到发病年龄和扩增等位基因的长度之间呈负相关，发病年龄和正常和扩增等位基因中CAG重复序列的总和之间也呈负相关。4例纯合子患者的发病年龄与两个等位基因中CAG重复序列的总和相关性更好，而与杂合子SCA6受试者计算的扩展等位基因相关性更好。临床上以步态不稳为首发症状，其次为眩晕和眩晕，小脑征几乎100%可见。相反，小脑外体征相对较轻且不常见。22例患者的耳神经系统检查结果提示单纯小脑性眼球运动异常。下拍定位性眼震与定位性眩晕关系密切，且后期多见。我们的结论是，CAG重复单位在两个等位基因的总数是一个很好的参数，用于评估SCA6包括纯合子患者的发病年龄。此外，临床和神经耳科检查表明，SCA6是一种以小脑功能障碍为主的疾病。
In order to clarify the clinical and genetic features of SCA6, we retrospectively analyzed 140 patients. We observed an inverse correlation between the age of onset and the length of the expanded allele, and also between the age of onset and the sum of CAG repeats in the normal and the expanded alleles. The ages of onset of four homozygous patients correlated better with the sum of CAG repeats in both alleles rather than with the expanded allele calculated from heterozygous SCA6 subjects. Clinically, unsteadiness of gait was the main initial symptom, followed by vertigo and oscillopsia, and cerebellar signs were detected in nearly 100% of the patients. In contrast, extracerebellar signs were relatively mild and infrequent. The results of neuro-otological examination performed in 22 patients suggested the purely cerebellar abnormalities of ocular movements in nature. There was a close relationship between downbeat positioning nystagmus (DPN) and positioning vertigo, which became more common in the later stage. We conclude that total number of CAG repeat-units in both alleles is a good parameter for assessment of age of onset in SCA6 including homozygous patients. In addition, clinical and neuro-otological examinations suggested that SCA6 is a disease with predominantly cerebellar dysfunction.