Department of Neurology, Faculty of Medicine, Kindai University, 377-2 Ohno-Higashi, Osaka-sayama, Osaka, 589-8511, Japan.
Department of Neurology, Kindai University Sakai Hospital, 2-7-1 Harayamadai, Minami-ku, Sakai, Osaka, 590-0132, Japan.
Cerebellum. 2019 Feb;18(1):76-84. doi: 10.1007/s12311-018-0955-0.
Spinocerebellar ataxia type 8 (SCA8) is a rare autosomal dominant neurodegenerative disease caused by expanded CTA/CTG repeats in the ATXN8OS gene. Many patients had pure cerebellar ataxia, while some had parkinsonism, both without causal explanation. We analyzed the ATXN8OS gene in 150 Japanese patients with ataxia and 76 patients with Parkinson's disease or related disorders. We systematically reassessed 123 patients with SCA8, both our patients and those reported in other studies. Two patients with progressive supranuclear palsy (PSP) had mutations in the ATXN8OS gene. Systematic analyses revealed that patients with parkinsonism had significantly shorter CTA/CTG repeat expansions and older age at onset than those with predominant ataxia. We show the imaging results of patients with and without parkinsonism. We also found a significant inverse relationship between repeat sizes and age at onset in all patients, which has not been detected previously. Our results may be useful to genetic counseling, improve understanding of the pathomechanism, and extend the clinical phenotype of SCA8.
脊髓小脑共济失调 8 型（SCA8）是一种罕见的常染色体显性神经退行性疾病，由 ATXN8OS 基因中 CTA/CTG 重复扩展引起。许多患者表现为单纯小脑性共济失调，而有些患者则表现为帕金森病，两者均无因果解释。我们分析了 150 例共济失调患者和 76 例帕金森病或相关疾病患者的 ATXN8OS 基因。我们对 123 例 SCA8 患者进行了系统评估，包括我们的患者和其他研究报告的患者。两名进行性核上性麻痹（PSP）患者的 ATXN8OS 基因有突变。系统分析显示，帕金森病患者的 CTA/CTG 重复扩展明显较短，发病年龄也较晚。我们展示了有和没有帕金森病的患者的影像学结果。我们还发现所有患者的重复大小与发病年龄之间存在显著的负相关关系，这以前尚未检测到。我们的结果可能对遗传咨询有用，有助于加深对发病机制的理解，并扩展 SCA8 的临床表型。
