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2001 Fiscal Year Final Research Report Summary

Linkage analysis of a Japanese family with autosomal dominant Parkinsonism

Research Project

Project/Area Number 12670616
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Neurology
Research InstitutionKitasato University

Principal Investigator

HASEGAWA Kazuko  Kitasato University, School of Medicine, Assistant Professor, 医学部, 講師 (70146372)

Co-Investigator(Kenkyū-buntansha) KUSUNOKI Junichi  Kitasato University, School of Medicine, Research Associate, 医学部, 助手 (70276129)
OBATA Fumiya  Kitasato University, School of Allied Health Sciences, Associate Professor, 医療衛生学部, 助教授 (60129236)
Project Period (FY) 2000 – 2001
KeywordsFamilial Parkinsonism / Park8
Research Abstract

We performed genome-wide linkage analysis of a Japanese family with autosomal-dominant parkinsonism, which exhibits clinical features compatible with those of common Parkinson's disease. Parametric two-point linkage analysis yielded a highest LOD score of 4.32 at D12S345 (12p11.21). Parametric multipoint linkage analysis of the 13.6 cM interval around this marker yielded LOD scores almost uniformly higher than 4.0 with a Zmax of 4.71 at D12S85 (12q12). Haplotype analysis detected two obligate recombination events at D12S 1631 and D12S339 and defined the disease-associated haplotype in the 13.6 cM interval in 12p11.2-q13.1. This haplotype was shared by all the patients and some unaffected carriers, suggesting that the disease penetration in this family is incomplete. This low penetrance suggests that environmental or other genetic factors modify expression of the disease. Nonparametric two-point and multipoint linkage analyses, which are penetrance-independent, yielded Zmax LOD scores of 14.2 and 24.9 at D12S345, respectively, strongly supporting the mapping of the parkinsonism locus in this family to 12p11.23-q13.11. This chromosome region is different from any known locus for hereditary parkinsonism, in keeping with the unique genetic features of the parkinsonism in this family. The nomenclature of PARK8 was assigned to the new locus.

  • Research Products

    (7 results)

All Other

All Publications (7 results)

  • [Publications] K.Hasegawa, F.Sakai, H.Kowa: "The phenomenon of nocturnal dystonia in Parkinoson's disease"Eur J Neurol. 8(suppl 1). 1-5 (2001)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] K Hasegawa, M Funayama, N.Matuura et al.: "Analysis of a-synuclein, parkin, tau, and UCH-L1 In a Japanese family of ADPD"Eur Neurol. 46. 20-24 (2001)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] T.Yokoyama, JI.Kusunoki, K.Hasegawa, et al.: "Distribution and dynamic process of neuronal cytoplasmic inclusion (NCI) in MSA"Neuropathology. 21. 145-154 (2001)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] K.Tsuchiya, M.Ikeda, K.Hasegawa, et al.: "Distribution of cerebral cortical lesions in Pick's disease with Pick body"Acta Neuropathol. 102. 553-571 (2001)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] M.Funayura, K.Hasegawa, H.Kowa, et al.: "A new locus for Parkinson's disease (PARK8) maps to chromosome 12p11.2-q13.1"Ann Neurol. 51. 296-301 (2002)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] K. Hasegawa, M. Funayama, N. Matsuura, H. Furusawa, F. Sakai, H. Kowa, and F. Obata: "Analysis of a-synuclein, parkin, tau, and UCH-L1 in a Japanese Family with Autosomal Dominant Parkinsonism"Eur Neurol. 46. 20-24 (2001)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] M Funayama, K Hasegawa, H Kowa, M Saito, S Tsuji, F Obata: "A new locus for Parkinson's disease (Park8) maps to chromosome 12p11.2-q13.1"Ann Neurol. 51. 296-301 (2002)

    • Description
      「研究成果報告書概要(欧文)」より

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Published: 2003-09-17  

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