Prevalence of Autosomal Dominant Cerebellar Ataxia in Aomori, the Northernmost Prefecture of Honshu, Japan
スポンサーリンク
概要
- 論文の詳細を見る
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. 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. 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. 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.
著者
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Ikeda Yoshio
Department of Cardiology, Tachikawa General Hospital
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Shoji Mikio
Department Of Neurology Graduate School Of Medicine And Dentistry Okayama Univeristy
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KANNARI Kazuya
Department of Neurological Science, Institute of Brain Science, Hirosaki University School of Medici
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Matsubara Etsuro
Department Of Neurology Division Of Neuroscience Biophysical Science Okayama University Graduate Sch
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Watanabe Mitsunori
Department Of Neurology Gunma University School Of Medicine
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Kawarabayashi Takeshi
Department Of Neurology Division Of Neuroscience Biophysical Science Okayama University Graduate Sch
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Jackson Mandy
Centre for Integrative Physiology, University of Edinburgh
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Wakasaya Yasuhito
Department of Neurology, Hirosaki University Graduate School of Medicine
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Yamamoto-Watanabe Yukiko
Department of Neurology, Hirosaki University Graduate School of Medicine
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Kawarabayashi Takeshi
Department of Neurology, Hirosaki University Graduate School of Medicine
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Hikichi Motofumi
Hikichi Clinic
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Kannari Kazuya
Department of Physical Therapy, Faculty of Health Sciences, Aomori University of Health and Welfare
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