Autozygosity mapping in consanguineous families with Parkinson's disease

2012 Fiscal Year Final Research Report

• Project/Area Number: 23791003
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Neurology
• Research Institution: Juntendo University
• Principal Investigator: LI Yuanzhe 順天堂大学, 医学研究科, 博士研究員 (40549292)
• Project Period (FY): 2011 – 2012
• Keywords: 家族性パーキンソン病 / オート接合性マッピング / 劣性遺伝子パーキンソン病

Research Abstract

This study identified a candidate gene for Parkinson’s disease by autozygosity mapping and whole-exome sequencing in consanguineous families with Parkinson’s disease (FPD). Accordingly, I performed mutation analysis of the candidate gene on 500 patients with FPD. However, no mutations were detected. I still cannot conclude whether the gene is the gene responsible for FPD. Therefore, further investigations areneeded to identify the gene responsible for FPD.

Research Products

• [Journal Article] Parkinsonism Relat Disord (2013)
  • Author(s): Ogaki K, Li Y, Takanashi M, Ishikawa KI, Kobayashi T, Nonaka T, Hasegawa M, Kishi M, Yoshino H, Funayama M, Tsukamoto T, Shioya K, Yokochi M, Imai H, Sasaki R, Kokubo Y, Kuzuhara S, Tomiyama H, Hattori N
  • Journal Title: Analyses of the MAPT, PGRN, and C9orf72 mutations in Japanese patients with FTLD, PSP, and CBS Volume: 19(1) Pages: 15-20
  • DOI: DOI:10.1016/j.parkreldis.2012.06.019
  • Peer Reviewed
• [Journal Article] VPS35 Mutation in Japanese Patients with Typical Parkinson's Disease (2012)
  • Author(s): Ando M, Funayama M, Li Y, Kashihara K, Murakami Y, Ishizu N, Toyoda C, Noguchi K, Hashimoto T, Nakano N, Sasaki R, Kokubo Y, Kuzuhara S, Ogaki K, Yamashita C, Yoshino H, Hatano T, Tomiyama H, and Hattori N
  • Journal Title: Mov Disord Volume: 27(11) Pages: 1413-7
  • DOI: DOI:10.1002/mds.25145
  • Peer Reviewed
• [Journal Article] Analysis of C9orf72 repeat expansion in 563 Japanese patients with amyotrophic lateral sclerosis (2012)
  • Author(s): Ogaki K, Li Y, Atsuta N, Tomiyama H, Funayama M, Watanabe H, Nakamura R, Yoshino H, Yato S, Tamura A, Naito Y, Taniguchi A, Fujita K, Izumi Y, Kaji R, Hattori N, Sobue G
  • Journal Title: Japanese Consortium for Amyotrophic Lateral Sclerosis research (JaCALS). Neurobiol Aging Volume: 33(10):252
  • DOI: DOI:10.1016/j.neurobiolaging.2012.05.011
  • Peer Reviewed
• [Journal Article] Pseudo-heterozygous rearrangement mutation of parkin (2012)
  • Author(s): Funayama M, Yoshino H, Li Y, Kusaka H, Tomiyama H, Hattori N
  • Journal Title: Mov Disord Volume: 27(4) Pages: 552-5
  • DOI: DOI:10.1002/mds.24906
  • Peer Reviewed
• [Journal Article] Visual grasping in frontotemporal dementia and parkinsonism linked to chromosome 17 (microtubule-associated with protein tau): A comparison of N-Isopropyl-p-[(123)I]-iodoamphetamine brain perfusion single photon emission computed tomography analysis with progressive supranuclear palsy (2011)
  • Author(s): Ogaki K, Motoi Y, Li Y, Tomiyama H, Shimizu N, Takanashi M, Nakanishi A, Yokoyama K, Hattori N
  • Journal Title: Mov Disord Volume: 26(3) Pages: 561-3
  • DOI: DOI:10.1002/mds.23461
  • Peer Reviewed
• [Journal Article] PLA2G6 variant in Parkinson's disease (2011)
  • Author(s): Tomiyama H, Yoshino H, Ogaki K, Li L, Yamashita C, Li Y, Funayama M, Sasaki R, Kokubo Y, Kuzuhara S, Hattori N
  • Journal Title: J Hum Genet Volume: 56(5) Pages: 401-3
  • DOI: DOI:10.1038/jhg.2011.22
  • Peer Reviewed
• [Journal Article] Prevalence of GJB2 causing recessive profound non-syndromic deafness in Japanese children (2011)
  • Author(s): Hayashi C, Funayama M, Li Y, Kamiya K, Kawano A, Suzuki M, Hattori N, Ikeda K
  • Journal Title: Int J Pediatr Otorhinolaryngol Volume: 75(2) Pages: 211-4
  • DOI: DOI:10.1016/j.ijporl.2010.11.001
  • Peer Reviewed