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J-GLOBAL ID：201802213838840590   Reference number：18A0769293

An autopsy case of the Kennedy-Alter-Sung type of familial spinal and bulbar muscular atrophy: Demonstration of a CAG repeat in the androgen receptor gene using whole genome amplification

家族性球脊髄性筋萎縮症のKennedy-Alter-Sung型の1剖検例:全ゲノム増幅を用いたアンドロゲン受容体遺伝子におけるCAG反復の証明

Author (9)： KONISHI Yoshihiro (NHO Tottori Medical Center) ,  ARAKI Kiho (NHO Tottori Medical Center) ,  YOSHIDA Ichiko (NHO Tottori Medical Center) ,  MORIMOTO Kaori (NHO Tottori Medical Center) ,  MIURA Yumako (NHO Tottori Medical Center) ,  MONOBE Yasumasa (Kawasaki Medical School) ,  SAITO Yuko (NHO Higashi-Nagoya Hospital) ,  AIBA Ikuko (NHO Higashi-Nagoya Hospital) ,  NISHIMURA Hirotake (Kawasaki Medical School)
Material： 鳥取臨床科学研究会誌  (Tottori Journal of Clinical Research)
Volume： 9  Issue： 2  Page： 190-204  Publication year： Mar. 2018 
JST Material Number： L7859A  ISSN： 1882-515X  Document type： Article
Article type： 原著論文  Country of issue： Japan (JPN)  Language： ENGLISH (EN)

Thesaurus term： *hereditary disease ,...
Semi thesaurus term： *Spinal and bulbar atrophy ,...

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JST classification (3)： Nervous system diseases  (GN03000O) ,  Pathological tests  (GC02040S) ,  Molecular genetics in general  (EC02010J)

Reference (18)：

• Kennedy, W.R., Alter, M., Sung, J.M. Progressive proximal spinal and bulbar muscular atrophy of late onset. A sex-linked recessive trait. Neurology, 18, 671-680, 1968
• Sobue, G., Hashizume, Y., Mukai, E. Hirayama, M., Mitsuma, T., Takahashi, A. X-linked recessive bulbospinal neuronopathy-A clinico- pathological study. Brain, 112, 209-232, 1989
• Arbizu, T., Santamaría, J., Gomez, J.M., Quilez, A., Serra, J.P. A family with adult spinal and bulbar muscular atrophy, X-linked inheritance and associated testicular failure. J. Neurol. Sci., 59, 371-382, 1983
• Adachi H, Katsuno M, Minamiyama M, Waza M, Sang C, Nakagomi Y, Kobayashi Y, Tanaka F, Doyu M, Inukai A, Yoshida M, Hashizume Y, Sobue G. Widespread nuclear and cytoplasmic accumulation of mutant androgen receptor in SBMA patients. Brain, 128, 659-670, 2005
• La Spada, A.R., Wilson, E.M., Lubahn, D.B., Harding, A.E., Fischbeck, K.H. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature, 352, 77-79, 1991

Terms in the title (8)： 家族 ,  球脊髄性筋萎縮症 ,  剖検 ,  全ゲノム増幅 ,  アンドロゲン受容体遺伝子 ,  CAG ,  反復 ,  証明