Art

J-GLOBAL ID：201902253704911060   Reference number：19A0217209

Diagnostic Challenges Posed by Preceding Peripheral Neuropathy in Very Late-onset Spinocerebellar Ataxia Type 3

超遅発性脊髄小脳失調症3型における先行末梢神経障害により提起された診断上の課題

Author (7)： Sugiyama Atsuhiko (Department of Neurology, Graduate School of Medicine, Chiba University, Japan) ,  Sekiguchi Yukari (Department of Neurology, Graduate School of Medicine, Chiba University, Japan) ,  Beppu Minako (Department of Neurology, Graduate School of Medicine, Chiba University, Japan) ,  Beppu Minako (Division of Clinical Genetics, Chiba University Hospital, Japan) ,  Ishige Takayuki (Division of Laboratory Medicine, Chiba University Hospital, Japan) ,  Matsushita Kazuyuki (Division of Laboratory Medicine, Chiba University Hospital, Japan) ,  Kuwabara Satoshi (Department of Neurology, Graduate School of Medicine, Chiba University, Japan)
Material： Internal Medicine (Web)  (Intern Med (Web))
Volume： 58  Issue： 1  Page： 119-122(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： Machado-Joseph Disease ,...

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Author keywords (5)： Machado-Joseph disease ,  neuronopathy ,  hot cross bun sign ,  magnetic resonance imaging ,  sensory ataxia

JST classification (2)： Diagnostics of congenital diseases, deformities.  (GD03020G) ,  Clinical neurology in general  (GN01030H)

Reference (11)：

• 1. Kawaguchi Y, Okamoto T, Taniwaki M, et al. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14qq32.1. Nat Genet 8: 221-228, 1994.
• 2. Dürr A, Stevanin G, Cancel G, et al. Spinocerebellar ataxia 3 and Machado-Joseph disease: clinical, molecular, and neuropathological features. Ann Neurol 39: 490-499, 1996.
• 3. C França M Jr, D'abreu A, Nucci A, Cendes F, Lopes-Cendes I. Prospective study of peripheral neuropathy in Machado-Joseph disease. Muscle Nerve 40: 1012-1018, 2009.
• 4. van Schaik IN, Jöbsis GJ, Vermeulen M, Keizers H, Bolhuis PA, de Visser M. Machado-Joseph disease presenting as severe asymmetric proximal neuropathy. J Neurol Neurosurg Psychiatry 63: 534-536, 1997.
• 5. van Alfen N, Sinke RJ, Zwarts MJ, et al. Intermediate CAG repeat lengths (53,54) for MJD/SCA3 are associated with an abnormal phenotype. Ann Neurol 49: 805-807, 2001.

Terms in the title (4)： 遅発性 ,  脊髄小脳失調症3型 ,  末梢神経障害 ,  診断