Art

J-GLOBAL ID：201902254163441020   Reference number：19A1821071

Atypical Familial Amyotrophic Lateral Sclerosis with Slowly Progressing Lower Extremities-predominant Late-onset Muscular Weakness and Atrophy

緩徐に進行する下肢優性遅発性筋力低下および筋萎縮を伴う非定型家族性筋萎縮性側索硬化症

Author (15)： Togawa Jumpei (Department of Neurology, National Hospital Organization Kyoto Medical Center, Japan) ,  Ohi Takekazu (Department of Neurology, Uji Hospital, Japan) ,  Yuan Jun-Hui (Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Japan) ,  Takashima Hiroshi (Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Japan) ,  Furuya Hirokazu (Department of Neurology, Kochi Medical School, Kochi University, Japan) ,  Takechi Shinji (Faculty of Pharmaceutical Sciences, Sojo University, Japan) ,  Fujitake Junko (Department of Neurology, Kyoto City Hospital, Japan) ,  Hayashi Saki (Department of Neurology, Uji Hospital, Japan) ,  Ishiura Hiroyuki (Department of Neurology, The University of Tokyo Hospital, Japan) ,  Naruse Hiroya (Department of Neurology, The University of Tokyo Hospital, Japan) ,  Mitsui Jun (Department of Neurology, The University of Tokyo Hospital, Japan) ,  Mitsui Jun (Department of Molecular Neurology, The University of Tokyo, Japan) ,  Tsuji Shoji (Department of Neurology, The University of Tokyo Hospital, Japan) ,  Tsuji Shoji (Department of Molecular Neurology, The University of Tokyo, Japan) ,  Tsuji Shoji (Graduate School of Health and Welfare Sciences, International University of Health and Welfare, Japan)
Material： Internal Medicine (Web)  (Intern Med (Web))
Volume： 58  Issue： 13  Page： 1851-1858(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(primates) ,...
Semi thesaurus term： PLEC遺伝子 ,...

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Author keywords (4)： familial amyotrophic lateral sclerosis ,  fALS ,  PLEC ,  ST3GAL6

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

Reference (20)：

• 1. Rowland LP, Shneider NA. Amyotrophic lateral sclerosis. N Engl J Med 344: 1688-1700, 2001.
• 2. Renton AE, Chio A, Traynor BJ. State of play in amyotrophic lateral sclerosis genetics. Nat Neurosci 17: 17-23, 2014.
• 3. Swinnen B, Robberecht W. The phenotypic variability of amyotrophic lateral sclerosis. Nat Rev Neurol 10: 661-670, 2014.
• 4. Ohi T, Nabeshima K, Kato S, Yazawa S, Takechi S. Familial amyotrophic lateral sclerosis with His46Arg mutation in Cu/Zn superoxide dismutase presenting characteristic clinical features and Lewy body-like hyaline inclusions. J Neurol Sci 225: 19-25, 2004.
• 5. Higasa K, Miyake N, Yoshimura J, et al. Human genetic variation database, a reference database of genetic variations in the Japanese population. J Hum Genet 61: 547-553, 2016.

Terms in the title (7)： 下肢 ,  優性 ,  遅発性 ,  筋力低下 ,  筋萎縮 ,  定型 ,  家族性筋萎縮性側索硬化症