1999 Fiscal Year Final Research Report Summary
Epidemiological, clinicopathological and molecular genetic : study on amyotrophic lateral sclerosis / parkinsonism-dementia complex of the kii peninsula of Japan (kii ALS/PDC)
| Project/Area Number |
10470153
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| Research Category |
Grant-in-Aid for Scientific Research (B)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Neurology
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| Research Institution | Mie University |
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Principal Investigator |
KUZUHARA Shigeki Mie University, Faculty of Medicine, Professor, 医学部, 教授 (70111383)
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| 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)
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| Project Period (FY) |
1998 – 1999
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| Keywords | Amyotrophic lateral sclerosis / parkinsonism-dementia complex / kii peninsula / neurofibrillary tangle / tau gene / SOD1 gene / apolipoprotein E polymorphism / epidemiology |
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| 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.
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