title: The clinical characteristics of spinocerebellar ataxia 36: a study of 2121 Japanese ataxia patients.
abstract: Spinocerebellar ataxia 36 is caused by the expansion of the intronic GGCCTG hexanucleotide repeat in NOP56. The original article describing this condition demonstrated that patients with spinocerebellar ataxia 36 present with tongue atrophy, a finding that had not been seen in previous types of spinocerebellar ataxias. A total of 2121 patients with clinically diagnosed spinocerebellar ataxia participated in the study. We screened our patient samples for spinocerebellar ataxia 36 using the repeat-primed polymerase chain reaction method and also determined the clinical features of spinocerebellar ataxia 36. Of the ataxia cases examined, 12 were identified as spinocerebellar ataxia 36. Of these, 7 cases (6 families) were autosomal dominant, 4 cases (three families) had a positive family history but were not autosomal dominant, and 1 case was sporadic. The average age of onset was 51.7 years, and disease progression was slow. The main symptoms and signs of disease included ataxia, dysarthria, and hyperreflexia. Approximately half the affected patients demonstrated nystagmus, bulging eyes, and a positive pathological reflex, although dysphagia, tongue atrophy, and hearing loss were rare. Moreover, the observed atrophy of the cerebellum and brain stem was not severe. The patients identified in this study were concentrated in western Japan. The frequency of spinocerebellar ataxia 36 was approximately 1.2% in the autosomal dominant group, and the age of onset for this condition was later in comparison with other spinocerebellar ataxia subtypes.
authors: Department of Epidemiology, Research Institute for Radiation Biology and Medicine, Hiroshima University, Hiroshima, Japan.
authors: Katsunobu
authors: K
authors: Sugihara
authors: Hirofumi
authors: H
authors: Maruyama
authors: Hiroyuki
authors: H
authors: Morino
authors: Ryosuke
authors: R
authors: Miyamoto
authors: Hiroki
authors: H
authors: Ueno
authors: Masayasu
authors: M
authors: Matsumoto
authors: Ryuji
authors: R
authors: Kaji
authors: Hiroshi
authors: H
authors: Kitaguchi
authors: Motohiro
authors: M
authors: Yukitake
authors: Yasuto
authors: Y
authors: Higashi
authors: Kazuto
authors: K
authors: Nishinaka
authors: Masaya
authors: M
authors: Oda
authors: Yuishin
authors: Y
authors: Izumi
authors: Hideshi
authors: H
authors: Kawakami
mesh_terms: D000328:Adult; D017668:Age of Onset; D044466:Asian People / Q000235:genetics; D001933:Brain Stem / Q000473:pathology; D002531:Cerebellum / Q000473:pathology; D018450:Disease Progression; D005260:Female; D006801:Humans; D007564:Japan / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D009460:Neurologic Examination; D016133:Polymerase Chain Reaction; D020754:Spinocerebellar Ataxias / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D019680:Trinucleotide Repeat Expansion