Severity and Progression Rate of Cerebellar Ataxia in 16q-linked Autosomal Dominant Cerebellar Ataxia (16q-ADCA) in the Endemic Nagano Area of Japan
Severity and Progression Rate of Cerebellar Ataxia in 16q-linked Autosomal Dominant Cerebellar Ataxia (16q-ADCA) in the Endemic Nagano Area of Japan
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DOI：
10.1007/s12311-008-0062-8
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发表时间：
2009-03-01
期刊：
影响因子：
3.5
通讯作者：
Ikeda, Shu-ichi
中科院分区：
文献类型：
--
作者：
Yoshida, Kunihiro;Shimizu, Yusaku;Ikeda, Shu-ichi
16q22.1连锁常染色体显性小脑共济失调（16q-ADCA）是最近定义的一种ADCA亚型，通过在puratrophin-1基因的5'非翻译区进行疾病特异性C/T替换鉴定。在日本主岛中部山区长野，16q-ADCA和脊髓小脑性共济失调6型（SCA6）分别是最常见和第二常见的ADCA亚型。这两种亚型都被归为Harding’s ADCA III，但16q-ADCA与SCA6在小脑共济失调的严重程度和进展率上的差异却很少被关注。我们采用国际合作性共济失调评定量表和共济失调评定量表对16q-ADCA患者小脑性共济失调的临床严重程度和进展率进行调查，并与SCA6患者进行比较。16q-ADCA患者的发病年龄（60.1 +/- 9.8岁，n = 66）远高于SCA6患者（41.1 +/- 8.7岁，n = 35）。16q-ADCA的临床特征与单纯的小脑性共济失调基本一致，在SCA6中也是如此，但16q-ADCA患者的凝视诱发性眼球震颤的发生率低于SCA6患者。在发病后几乎相同病程的情况下比较，16q-ADCA患者小脑共济失调的严重程度略高，且进展速度似乎比SCA6患者更快，但差异不显著。
16q22.1-linked autosomal dominant cerebellar ataxia (16q-ADCA) is a recently defined subtype of ADCA identified by a disease-specific C/T substitution in the 5' untranslated region of the puratrophin-1 gene. In Nagano, the central mountainous district of the main island of Japan, 16q-ADCA and spinocerebellar ataxia type 6 (SCA6) are the most and second most prevalent subtypes of ADCA, respectively. Both subtypes are classified into Harding's ADCA III, but little attention has been given to the differences in the severity and progression rate of cerebellar ataxia between 16q-ADCA and SCA6. We investigated the clinical severity and progression rate of cerebellar ataxia of 16q-ADCA patients using international cooperative ataxia rating scale and scale for the assessment and rating of ataxia and compared them with those of SCA6 patients. The age at onset was much higher in 16q-ADCA patients (60.1 +/- 9.8 years, n = 66) than in SCA6 patients (41.1 +/- 8.7 years, n = 35). Clinical features of 16q-ADCA were basically consistent with pure cerebellar ataxia, as well as in SCA6, but gaze-evoked nystagmus was observed less frequently in 16q-ADCA patients than in SCA6 patients. When compared at almost the same disease duration after onset, the severity of cerebellar ataxia was a little higher, and the progression rate seemed more rapid in 16q-ADCA patients than in SCA6 patients, but the differences were not significant.