Art

J-GLOBAL ID：201902243279525018   Reference number：19A2738025

Prominent Spasticity and Hyperreflexia of the Legs in a Nepalese Patient with Friedreich Ataxia

フリードライヒ運動失調症のネパール人患者における脚の顕著な痙縮と反射亢進

Author (14)： Naruse Hiroya (Department of Neurology, Graduate School of Medicine, The University of Tokyo, Japan) ,  Takahashi Yuji (Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Japan) ,  Ishiura Hiroyuki (Department of Neurology, Graduate School of Medicine, The University of Tokyo, Japan) ,  Matsukawa Takashi (Department of Neurology, Graduate School of Medicine, The University of Tokyo, Japan) ,  Matsukawa Takashi (Department of Molecular Neurology, Graduate School of Medicine, The University of Tokyo, Japan) ,  Mitsui Jun (Department of Neurology, Graduate School of Medicine, The University of Tokyo, Japan) ,  Mitsui Jun (Department of Molecular Neurology, Graduate School of Medicine, The University of Tokyo, Japan) ,  Ichikawa Yaeko (Department of Neurology, Faculty of Medicine, Kyorin University, Japan) ,  Hamada Masashi (Department of Neurology, Graduate School of Medicine, The University of Tokyo, Japan) ,  Shimizu Jun (Department of Neurology, Graduate School of Medicine, The University of Tokyo, Japan) ,  Goto Jun (Department of Neurology, International University of Health and Welfare Mita Hospital, Japan) ,  Toda Tatsushi (Department of Neurology, Graduate School of Medicine, The University of Tokyo, Japan) ,  Tsuji Shoji (Department of Molecular Neurology, Graduate School of Medicine, The University of Tokyo, Japan) ,  Tsuji Shoji (International University of Health and Welfare, Japan)
Material： Internal Medicine (Web)  (Intern Med (Web))
Volume： 58  Issue： 19  Page： 2865-2869(J-STAGE)  Publication year： 2019 
JST Material Number： U0033A  ISSN： 1349-7235  Document type： Article
Article type： 原著論文  Country of issue： Japan (JPN)  Language： ENGLISH (EN)

Thesaurus term： human ,...
Semi thesaurus term： *Friedreich's ataxia ,...

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Author keywords (4)： Friedreich ataxia ,  Friedreich ataxia with retained reflexes (FARR) ,  haplotype analysis ,  Nepalese

JST classification (2)： Congenital diseases,deformities in general.  (GD03010V) ,  Nervous system diseases  (GN03000O)

Reference (17)：

• 1. Campuzano V, Montermini L, Moltò MD, et al. Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 271: 1423-1427, 1996.
• 2. Pandolfo M. Friedreich ataxia: the clinical picture. J Neurol 256 (Suppl 1): 3-8, 2009.
• 3. Delatycki MB, Knight M, Koenig M, Cossee M, Williamson R, Forrest SM. G130V, a common FRDA point mutation, appears to have arisen from a common founder. Hum Genet 105: 343-346, 1999.
• 4. Labuda M, Labuda D, Miranda C, et al. Unique origin and specific ethnic distribution of the Friedreich ataxia GAA expansion. Neurology 54: 2322-2324, 2000.
• 5. Harding AE. Friedreich's ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features. Brain 104: 589-620, 1981.

Terms in the title (6)： フリードライヒ運動失調症 ,  ネパール ,  患者 ,  脚 ,  痙縮 ,  反射亢進