| Project/Area Number |
06454278
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| Research Category |
Grant-in-Aid for General Scientific Research (B)
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| Allocation Type | Single-year Grants |
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| Research Field |
Neurology
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| Research Institution | HIROSHIMA UNIVERSITY |
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Principal Investigator |
YAMAMURA Yasuhiro Hiroshima University, School of Medicine, Professor, 医学部, 教授 (10106388)
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| Co-Investigator(Kenkyū-buntansha) |
KATAYAMA Sadao Hiroshima University, Medical Hospital, Research Associate, 医学部・附属病院, 助手 (00211160)
KAWAKAMI Hideshi Hiroshima University, School of Medicine, Research Associate, 医学部, 助手 (70253060)
KOHRIYAMA Tatuo Hiroshima University, Medical Hospital, Assistant Professor, 医学部・附属病院, 講師 (80195693)
MIMORI Yasuyo Hiroshima University, School of Medicine, Associate Professor, 医学部, 助教授 (50166112)
NAKAMURA Shigenobu Hiroshima University, School of Medicine, Professor, 医学部, 教授 (30026843)
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| Project Period (FY) |
1994 – 1995
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| Project Status |
Completed (Fiscal Year 1995)
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| Budget Amount *help |
¥800,000 (Direct Cost: ¥800,000)
Fiscal Year 1995: ¥800,000 (Direct Cost: ¥800,000)
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| Keywords | Parkinsonism / Early-cnset / Diflucination / Dyskineisa / Dopamine transporter / Autosomal Recessive / 黒質 / パーキンソン病 |
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| Research Abstract |
We analyzed signs of 57 patients with the onset under 40 years old in order to show the clinical manifestation of autosomal recessive early-onset Parkinsonism We divided them into two groups, A (without diurnal fluctuation) and B (with diurnal fluctuation). There were significant differences between group A and group B in the incidence of a positive family history, the mean age at onset, incidence of dystonic gait disturbance as the initial symptom, the incidence and intensity (mean) of dystonia, hyperreflexia, and dopa-induced dyskinesia. Analysis of the whole courses showed slower progression of the disease in group A than in group B with statistical significance. On the other hand, differences in the sex ratio and frequency of autonomic and mental symptoms were not significant between two groups.
Pathological study revealed marked cell loss in the substantia nigra zona compacta, while the neuronal cell population of ventral tegmental area, locus caeruleus, superior raphae nucleus, and substantia innominata was relatively well preserved. There were no Lewy bodies.
In molecular biology field, we cloned cDNA of a human dopamine transporter by PCR,and cloned the human gene using the cDNA as a probe. We analyzed the human gene and constructed the restriction enzyme map of the human dopamine transporter gene. As a result, we showed that the gene is consist of 15 exons.
The clinical and pathological characteristics of autosomal recessive early-onset Parkinnsonism revealed the nosological identification.
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