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Epidemiological, clinicopathological and molecular genetic : study on amyotrophic lateral sclerosis / parkinsonism-dementia complex of the kii peninsula of Japan (kii ALS/PDC)

Research Project

Project/Area Number 10470153
Research Category

Grant-in-Aid for Scientific Research (B)

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

Principal Investigator

KUZUHARA Shigeki  Mie University, Faculty of Medicine, Professor, 医学部, 教授 (70111383)

Co-Investigator(Kenkyū-buntansha) SASAKI Ryogen  Mie University, Faculty of Medicine, Assistant, 医学部, 助手 (60303723)
NARITA Yugo  Mie University, Faculty of Medicine, Associate Professor, 医学部, 助教授 (50242954)
Project Period (FY) 1998 – 1999
Project Status Completed (Fiscal Year 1999)
Budget Amount *help
¥13,300,000 (Direct Cost: ¥13,300,000)
Fiscal Year 1999: ¥1,600,000 (Direct Cost: ¥1,600,000)
Fiscal Year 1998: ¥11,700,000 (Direct Cost: ¥11,700,000)
KeywordsAmyotrophic lateral sclerosis / parkinsonism-dementia complex / kii peninsula / neurofibrillary tangle / tau gene / SOD1 gene / apolipoprotein E polymorphism / epidemiology / 痴呆 / 神経難病 / タウ蛋白 / パーキンソニズム痴呆複合
Research Abstract

Amyotrophic lateral sclerosis (ALS), an obstinate neurodegenerative disease and an endemic disease, parkinsonism-dementia complex (PDC) accumulate in very high prevalence on the Guam island and the southern coast of the Kii peninsula of Japan in the western Pacific. The western Pacific ALS and PDC are neurothologically characterized by presence of many neurofibrillary tangles (NFTs) in the brain. Extensive investigations failed to clarify the cause of high accumulation of ALS and PDC, and markedly decline of them by 1980 was reported. We had a field survey in the Hohara village, one of the high prevalence ALS foci, and found continuing high incidence rates of ALS and PDC after 1980. We found 21 cases of ALS/PDC which developed during 1985 and 1997. ALS and PDC occurred simultaneously in a single patient or members of a single family. More than 70% of the patients had a family history of ALS/PDC. We examined 6 cases of ALS/PDC neuropathologically, including the first autopsy case of PDC of the Kii peninsula. Both ALS and PDC showed similar findings, the ALS pathology and many NFTs. These observations suggest that ALS and PDC of the Kii peninsula are different clinical manifestations of a nosologically single disease. Gene analyses done in 12 ALS/PDC patients for apoE polymorphism as a risk of Alzheimer's disease, CYP2D6 polymorphism as a risk of Parkinson's disease, tau polymorphism for a risk of progressive supranuclear palsy, SOD1 gene mutation of familial ALS, and tau gene mutation of frontotemporal dementia linked to chromosome 17 failed to reveal any abnormalities. More studies to clarify the candidate gene(s) are in progress.

Report

(3 results)
  • 1999 Annual Research Report   Final Research Report Summary
  • 1998 Annual Research Report
  • Research Products

    (13 results)

All Other

All Publications (13 results)

  • [Publications] Kuzuhara S: "A family of amyotrophic lateral sclerosis and parkinsonism-dementia complex CALS/PPC) of Kii peninsula of Japan suggesting a familial tauopathy. Report of three autopsy cases"J. Neuropathol. Exptl. Neurol.. 58. 548-548 (1999)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] Kokubo Y: "Accumulation of neurofilaments and SOD1-immunoreactive products in a patient with familial amyotrophic lateral sclerosis with I113T SOD1 mutation"Arch Neurol.. 56. 1506-1508 (1999)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] Kuzuhara S: "A family amyotrophic lateral sclerosis and parkinsonism-dementia complex (ALS/PDC) of Kii peninsula of Japan suggesting a familial tauopathy. Report of three autopsy cases"J. Neuropathol Exptl Neurol. 58. 548 (1999)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] Kokubo Y: "Accumulation of neurofilaments and SOD1-immunoreactive products in a patient with familial amyotrophic lateral sclerosis with I113T SOD1 mutation"Arch Neurol. 56. 1506-1508 (1999)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] Kokubo Y: "Accumulation of neurofilaments and SOD1-immunoreactive products in patient with familial amyotrophic lateral sclerosis with I113T SOD1 mutation"Arch Neurol. 56・12. 1506-1508 (1999)

    • Related Report
      1999 Annual Research Report
  • [Publications] Sasaki R: "A novel mutation in the gene for the adult skeletal muscle sodium channel alpra-subunit (SCN4A) that causes paramyotonia congenita of von Eulenburg"Arch Neurol. 56・6. 692-696 (1999)

    • Related Report
      1999 Annual Research Report
  • [Publications] Sasaki R: "Novel CLCN1 mutations in two unrelated Japanese families with Becher's myotonia congenita"Neuromusc Disord. 9・12. 587-592 (1999)

    • Related Report
      1999 Annual Research Report
  • [Publications] Kuzuhara S: "A family of amyotrophic lateral sclerosis and parkinsonism-dementia complex (ALS/PDC) of the Kii peninsula of Japan suggesting a family tauopathy,Report of three autopsy cases"J Neuropathol Exptl Neurol. 58. 548-548 (1999)

    • Related Report
      1999 Annual Research Report
  • [Publications] 葛原茂樹: "紀伊半島の筋萎縮性側索硬化症/パーキンソニズム・痴呆複合の臨床的・神経病理学的研究 Frontotemporal dementia with tauopathyの1型か?" Dementia Japan. 12. 131-131 (1998)

    • Related Report
      1998 Annual Research Report
  • [Publications] 佐々木良元: "紀伊半島の筋萎縮性側索硬化症とパーキンソニズム痴呆複合のタウ遺伝子解析" Dementia Japan. 12. 53-53 (1998)

    • Related Report
      1998 Annual Research Report
  • [Publications] Kuzuhara S: "Continuing high incidence rates and frequent familial occurrence of amyotrophic lateral sclerosis and parkinsonism-dementia complex of the Kii peninsula of Japan" Neurology. 50. A173-A173 (1998)

    • Related Report
      1998 Annual Research Report
  • [Publications] 葛原茂樹: "紀伊半島とグアムの神経難病の原因-遺伝素因と環境要因-" 医学のあゆみ. 別冊. 115-121 (1998)

    • Related Report
      1998 Annual Research Report
  • [Publications] 小久保康昌: "グアム島と紀伊半島のparkinsonism-dementia complexの眼球運動障害" 神経内科. 49. 331-337 (1998)

    • Related Report
      1998 Annual Research Report

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Published: 1998-04-01   Modified: 2016-04-21  

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