Prevalence of Autosomal Dominant Cerebellar Ataxia in Aomori, the Northernmost Prefecture of Honshu, Japan

• Yamamoto-Watanabe Yukiko

  Department of Neurology, Hirosaki University Graduate School of Medicine

• Watanabe Mitsunori

  Department of Neurology, Hirosaki University Graduate School of Medicine

• Hikichi Motofumi

  Hikichi Clinic

• Ikeda Yoshio

  Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences

• Jackson Mandy

  Centre for Integrative Physiology, University of Edinburgh

• Wakasaya Yasuhito

  Department of Neurology, Hirosaki University Graduate School of Medicine

• Matsubara Etsuro

  Department of Neurology, Hirosaki University Graduate School of Medicine

• Kawarabayashi Takeshi

  Department of Neurology, Hirosaki University Graduate School of Medicine

• Kannari Kazuya

  Department of Physical Therapy, Faculty of Health Sciences, Aomori University of Health and Welfare

• Shoji Mikio

  Department of Neurology, Hirosaki University Graduate School of Medicine

抄録

Objective 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.<br> Methods and Patients 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.<br> Results 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.<br> Conclusion 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.<br>

収録刊行物

• Internal Medicine

  Internal Medicine 49 (22), 2409-2414, 2010

  一般社団法人 日本内科学会

キーワード

• Aomori
• autosomal dominant cerebellar ataxia
• Japanese
• multiple system atrophy
• SCA2

詳細情報

• CRID: 1390001204872692608
• NII論文ID: 130000413368
• DOI: 10.2169/internalmedicine.49.4025
• ISSN: 13497235
• ISSN: 09182918
• Web Site: http://www.jstage.jst.go.jp/article/internalmedicine/49/22/49_22_2409/_pdf
• Web Site: https://search.jamas.or.jp/link/ui/2011177162
• 本文言語コード: en
• データソース種別:
  • JaLC
  • Crossref
  • CiNii Articles
• 抄録ライセンスフラグ: 使用不可