Art

J-GLOBAL ID：201402207889204562   Reference number：14A0003425

Identification of a Novel Homozygous SPG7 Mutation in a Japanese Patient with Spastic Ataxia: Making an Efficient Diagnosis Using Exome Sequencing for Autosomal Recessive Cerebellar Ataxia and Spastic Paraplegia

遺伝性痙性失調症の日本人患者における新規ホモ接合性SPG7変異の同定:常染色体劣性小脳失調症および痙性対麻痺に対するエキソームシークエンシングを用いる効率的診断の実施

Author (15)： DOI Hiroshi (Dep. of Human Genetics, Yokohama City Univ., JPN) ,  DOI Hiroshi (Dep. of Clinical Neurology and Stroke Medicine, Yokohama City Univ., JPN) ,  OHBA Chihiro (Dep. of Human Genetics, Yokohama City Univ., JPN) ,  OHBA Chihiro (Dep. of Clinical Neurology and Stroke Medicine, Yokohama City Univ., JPN) ,  TSURUSAKI Yoshinori (Dep. of Human Genetics, Yokohama City Univ., JPN) ,  MIYATAKE Satoko (Dep. of Human Genetics, Yokohama City Univ., JPN) ,  MIYAKE Noriko (Dep. of Human Genetics, Yokohama City Univ., JPN) ,  SAITSU Hirotomo (Dep. of Human Genetics, Yokohama City Univ., JPN) ,  KAWAMOTO Yuko (Dep. of Clinical Neurology and Stroke Medicine, Yokohama City Univ., JPN) ,  YOSHIDA Tamaki (Dep. of Clinical Neurology and Stroke Medicine, Yokohama City Univ., JPN) ,  KOYANO Shigeru (Dep. of Clinical Neurology and Stroke Medicine, Yokohama City Univ., JPN) ,  SUZUKI Yume (Dep. of Clinical Neurology and Stroke Medicine, Yokohama City Univ., JPN) ,  KUROIWA Yoshiyuki (Dep. of Clinical Neurology and Stroke Medicine, Yokohama City Univ., JPN) ,  TANAKA Fumiaki (Dep. of Clinical Neurology and Stroke Medicine, Yokohama City Univ., JPN) ,  MATSUMOTO Naomichi (Dep. of Human Genetics, Yokohama City Univ., JPN)
Material： Internal Medicine (Web)  (Intern Med (Web))
Volume： 52  Issue： 14  Page： 1629-1633 (J-STAGE)  Publication year： 2013 
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： SPG7遺伝子 ,...

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

Reference (22)：

• 1. Palau F, Espinos C. Autosomal recessive cerebellar ataxias. Orphanet J Rare Dis 1: 47, 2006.
• 2. Manto M, Marmolino D. Cerebellar ataxias. Curr Opin Neurol 22: 419-429, 2009.
• 3. Vermeer S, Hoischen A, Meijer RP, et al. Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia. Am J Hum Genet 87: 813-819, 2010.
• 4. Blackstone C, O'Kane CJ, Reid E. Hereditary spastic paraplegias: membrane traffic and the motor pathway. Nat Rev Neurosci 12: 31-42, 2011.
• 5. Erlich Y, Edvardson S, Hodges E, et al. Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis. Genome Res 21: 658-664, 2011.

Terms in the title (13)： 遺伝性痙性失調症 ,  日本人 ,  患者 ,  ホモ接合性 ,  変異 ,  同定 ,  常染色体 ,  劣性 ,  小脳失調症 ,  痙性対麻痺 ,  エキソームシークエンシング ,  診断 ,  実施