Yamamoto-Watanabe Yukiko, Watanabe Mitsunori, Hikichi Motofumi, Ikeda Yoshio, Jackson Mandy, Wakasaya Yasuhito, Matsubara Etsuro, Kawarabayashi Takeshi, Kannari Kazuya, Shoji Mikio
Department of Neurology, Hirosaki University Graduate School of Medicine, Hirosaki, Japan.
Intern Med. 2010;49(22):2409-14. doi: 10.2169/internalmedicine.49.4025. Epub 2010 Nov 15.
The frequency of autosomal dominant cerebellar ataxia (ADCA) varies between different regions of Japan. This is the first report on the prevalence of ADCA subtypes in Aomori, Japan.
Sixty-five familial spinocerebellar ataxia (SCA) patients and 15 sporadic SCA patients were genetically examined. For only the SCA2 patients (n = 8), the magnetic resonance imaging (MRI) data were analyzed in detail.
Spinocerebellar ataxia (SCA) type 6 was often observed (77.7% of cases), with SCA2 (10.6% of cases) being the next most common form. In contrast, only one of the eighty patients had SCA1. Among the 15 sporadic SCA patients, genetic mutations for SCA2, SCA6, SCA17, and SCA31 were identified, indicating that ADCAs should be considered in sporadic cases of ataxia. Furthermore, in SCA2 cases, brainstem atrophy, pontine midline linear hyperintensity, and atrophy of the frontal lobes were frequently observed using MRI.
The present data indicate that the prevalence of ADCA in Aomori differs from other prefectures in the Tohoku District. MRI findings are very similar between SCA2 and multiple system atrophy (MSA), and thus care must be taken to prevent the misdiagnosis of sporadic SCA2 as MSA.
常染色体显性遗传性小脑共济失调（ADCA）在日本不同地区的发病率有所不同。这是关于日本青森县ADCA亚型患病率的首份报告。
对65例家族性脊髓小脑共济失调（SCA）患者和15例散发性SCA患者进行了基因检测。仅对SCA2患者（n = 8）的磁共振成像（MRI）数据进行了详细分析。
经常观察到6型脊髓小脑共济失调（SCA）（占病例的77.7%），其次是SCA2（占病例的10.6%）。相比之下，80例患者中只有1例患有SCA1。在15例散发性SCA患者中，鉴定出SCA2、SCA6、SCA17和SCA31的基因突变，这表明在散发性共济失调病例中应考虑ADCA。此外，在SCA2病例中，使用MRI经常观察到脑干萎缩、脑桥中线线性高信号和额叶萎缩。
目前的数据表明，青森县ADCA的患病率与东北地区的其他县不同。SCA2和多系统萎缩（MSA）的MRI表现非常相似，因此必须注意防止将散发性SCA2误诊为MSA。
