Sawada Jun, Katayama Takayuki, Tokashiki Takashi, Kikuchi Shiori, Kano Kohei, Takahashi Kae, Saito Tsukasa, Adachi Yoshiki, Okamoto Yuji, Yoshimura Akiko, Takashima Hiroshi, Hasebe Naoyuki
Division of Neurology, Department of Internal Medicine, Asahikawa Medical University, Japan.
Department of Neurology, National Hospital Organization Okinawa Hospital, Japan.
Intern Med. 2020 Jan 15;59(2):277-283. doi: 10.2169/internalmedicine.2905-19. Epub 2019 Sep 26.
Spinocerebellar ataxia type 8 (SCA8) is a rare hereditary cerebellar ataxia showing mainly pure cerebellar ataxia. We herein report cases of SCA8 in Japanese monozygotic twins that presented with nystagmus, dysarthria, and limb and truncal ataxia. Their ATXN8OS CTA/CTG repeats were 25/97. They showed similar manifestations, clinical courses, and cerebellar atrophy on magnetic resonance imaging. Some of their pedigrees had nystagmus but not ataxia. These are the first monozygotic twins with SCA8 to be reported anywhere in the world. Although not all subjects with the ATXN8OS CTG expansion develop cerebellar ataxia, these cases suggest the pathogenesis of ATXN8OS repeat expansions in hereditary cerebellar ataxia.
8型脊髓小脑共济失调（SCA8）是一种罕见的遗传性小脑共济失调，主要表现为单纯性小脑共济失调。我们在此报告了日本单卵双胞胎患SCA8的病例，他们出现了眼球震颤、构音障碍以及肢体和躯干共济失调。他们的ATXN8OS CTA/CTG重复序列为25/97。他们在磁共振成像上表现出相似的症状、临床病程和小脑萎缩。他们家族中的一些人有眼球震颤，但没有共济失调。这是世界上首次报道的患SCA8的单卵双胞胎。虽然并非所有ATXN8OS CTG扩增的个体都会发展为小脑共济失调，但这些病例提示了遗传性小脑共济失调中ATXN8OS重复序列扩增的发病机制。
