New Causative Genes for Spinocerebellar degenerations by new genetic methods

2012 Fiscal Year Final Research Report

• Project/Area Number: 23659456
• Research Category: Grant-in-Aid for Challenging Exploratory Research
• Allocation Type: Multi-year Fund
• Research Field: Neurology
• Research Institution: Hiroshima University
• Principal Investigator: KAWAKAMI Hideshi 広島大学, 原爆放射線医科学研究所, 教授 (70253060)
• Project Period (FY): 2011 – 2012
• Keywords: 脊髄小脳変性症

Research Abstract

We have screened over 2000 patients with spinocerebellar degeneration. The two hundred patiens do not indicate the causative genes. To clarify the causative genes, we typed SNPs of DNA samples from 30 patients in Chugoku and Shikoku areas. We could not find the significant common haplotypes. In the next, we screened SCA36, and found the12 patients. Furthermore, we analyzed the consanguinity families by exome sequencing. In the results,we found the mutations of SYNE1 gene in 3 patients. One of them showed the motor neuron abnormality.

Research Products

• [Journal Article] Exome sequencing reveals a novel ANO10 mutation in a Japanese patient with autosomal recessive spinocerebellar ataxia. (2013)
  • Author(s): H Maruyama, H Morino, R Miyamoto, N Murakami, T Hamano, H Kawakami.
  • Journal Title: Clinical Genetics
  • DOI: DOI:10.1111/cge.12140
  • Peer Reviewed
• [Journal Article] Oromandibular dystonia associated with SCA36 (2013)
  • Author(s): Miyashiro A, Sugihara K, Kawarai T, Miyamoto R, Izumi Y, Morino H, Maruyama H,Orlacchio A, Kawakami H, Kaji R
  • Journal Title: Mov Disord Volume: 28(4) Pages: 558-9
  • Peer Reviewed
• [Journal Article] Cerebellar ataxia with SYNE1 mutation accompanying motor neuron disease (2013)
  • Author(s): Izumi Yuishin, Miyamoto Ryousuke, Morino Hiroyuki, Yoshizawa Akio, Nishinaka Kazuto, Udaka Fukashi, Kameyama Masakuni, Maruyama Hirofumi, Kawakami Hideshi
  • Journal Title: Neurology Volume: 80 Pages: 600-601
  • Peer Reviewed
• [Journal Article] The clinical characteristics of spinocerebellar ataxia 36: a study of 2121 Japanese ataxia patients (2012)
  • Author(s): Sugihara K, Maruyama H, Morino H, Miyamoto R, Ueno H, Matsumoto M, Kaji R,Kitaguchi H, Yukitake M, Higashi Y, Nishinaka K, Oda M, Izumi Y, Kawakami H
  • Journal Title: Mov Disord Volume: 27(9) Pages: 1158-63
  • Peer Reviewed
• [Journal Article] Detection of large expansions in SCA8 using a fluorescent repeat-primed PCR assay (2012)
  • Author(s): Tanaka E, Maruyama H, Morino H, Kawakami H.
  • Journal Title: Hiroshima J Med Sci Volume: 60 Pages: 63-66
  • Peer Reviewed
• [Journal Article] Homozygosity mapping on homozygosity haplotypeanalysis to detect recessive disease-causing genes from a small number of unrelated, outbred patients (2011)
  • Author(s): Hagiwara K, Morino H, Shiihara J, Tanaka T, Miyazawa H, Suzuki T, Kohda M,Okazaki Y, Seyama K, Kawakami H.
  • Journal Title: PLoS One Volume: 6(9) Pages: e25059.
  • Peer Reviewed
• [Presentation] Cerebellar ataxia with SYNE1 mutation accompanying motor neuron disease (2013)
  • Author(s): Izumi Yuishin, Miyamoto Ryousuke, Morino Hiroyuki, Yoshizawa Akio, Nishinaka Kazuto, Udaka Fukashi, Kameyama Masakuni, Maruyama Hirofumi, Kawakami Hideshi.
  • Organizer: 65th American Association of Neurology Annual Mettings
  • Place of Presentation: San Diego, USA
  • Year and Date: 20130316-23
• [Presentation] Exome sequence identifies a novel MRE11mutation in a patient with generalized myoclonic tremor (2012)
  • Author(s): R Miyamoto, H Morino, H Maruyama, Y Izumi, R Kaji, H Kawakami
  • Organizer: 62ndAnnual Meeting of The American Society of Human Genetics
  • Place of Presentation: San Francisco, USA
  • Year and Date: 2012-11-08
• [Presentation] SCA36 の臨床的特徴 (2012)
  • Author(s): 杉原勝宣,丸山博文, 宮本亮介, 森野豊之,上野弘貴,北口浩史,雪竹基弘,東靖人,西中和人,織田雅也,和泉唯信,川上秀史
  • Organizer: 日本人類遺伝学会第57回大会
  • Place of Presentation: 東京
  • Year and Date: 2012-10-27
• [Presentation] Exome sequencing identifies a novel MRE11 mutation in a patient with generalized myoclonic tremor (2012)
  • Author(s): 宮本亮介, 森野豊之, 丸山博文, 和泉唯信,梶龍兒,川上秀史
  • Organizer: 日本人類遺伝学会第57回大会
  • Place of Presentation: 東京
  • Year and Date: 2012-10-25
• [Presentation] 徳島大学病院神経内科で診断した遺伝性脊髄小脳変性症 (2012)
  • Author(s): 和泉唯信,宮本亮介,山本伸昭,島谷佳光,藤田浩司,佐藤健太,寺澤由佳,松井尚子,野寺裕之,瓦井俊孝,梶龍兒,森野豊之,丸山博文,川上秀史
  • Organizer: 第92回日本神経学会中国・四国地方会
  • Place of Presentation: 徳島
  • Year and Date: 2012-07-07
• [Remarks]
  • URL: http://home.hiroshima-u.ac.jp/epidem/