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J-GLOBAL ID：200902282963874704   Reference number：04A0459664

A clinical and genetic study in a large cohort of patients with spinocerebellar ataxia type 6

6型脊髄小脳性運動失調を持つ患者の大きなコホートにおける臨床的及び遺伝的研究

Author (9)： TAKAHASHI H (Tokyo Medical and Dental Univ. Graduate School of Medicine, Tokyo, JPN) ,  ISHIKAWA K (Tokyo Medical and Dental Univ. Graduate School of Medicine, Tokyo, JPN) ,  TSUTSUMI T (Tokyo Medical and Dental Univ., Tokyo, JPN) ,  KAWATA A (Tokyo Metropolitan Neurological Hospital, Tokyo, JPN) ,  OKIYAMA R (Tokyo Metropolitan Neurological Hospital, Tokyo, JPN) ,  FUJITA T (Hitachi General Hospital, Ibaraki, JPN) ,  YOSHIZAWA K (Mito National Hospital, Mito, JPN) ,  YAMAGUCHI S (Yokohama City Univ. Medical Center, Yokohama, JPN) ,  KITAMURA K (Tokyo Medical and Dental Univ., Tokyo, JPN)
Material： Journal of Human Genetics  (J Hum Genet)
Volume： 49  Issue： 5  Page： 256-264  Publication year： 2004 
JST Material Number： Z0756A  ISSN： 1434-5161  Document type： Article
Article type： 原著論文  Country of issue： United Kingdom (GBR)  Language： ENGLISH (EN)

Thesaurus term： human ,...
Semi thesaurus term： nystagmus ,...

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JST classification (1)： Genetic variation  (EC01030Y)

Reference (46)：

• BERTHOLON, P. Positional down beating nystagmus in 50 patients : cerebellar disorders and possible anterior semicircular canalithiasis. J Neurol Neurosurg Psychiatry. 2002, 72, 366-372
• BURK, K. Autosomal dominant cerebellar ataxia type I : oculomotor abnormalities in families with SCA1, SCA2, and SCA3. J Neurol. 1999, 246, 789-797
• BUTTNER, U. Gaze-evoked nystagmus and smooth pursuit deficits : their relationship studied in 52 patients. J Neurol. 1995, 242, 384-389
• BUTTNER, N. Oculomotor phenotypes in autosomal dominant ataxias. Arch Neurol. 1998, 55, 1353-1357
• CHUNG, MY. A novel autosomal dominant spinocerebellar ataxia (SCA22) linked to chromosome 1p21-q23. Brain. 2003, 126, 1293-1299

Terms in the title (5)： 脊髄小脳性運動失調 ,  患者 ,  コホート ,  臨床 ,  研究