发明名称 |
Cloning of a gene mutation for parkinson's disease |
摘要 |
Parkinson's disease (PD) is a common neurodegenerative disorder with a lifetime incidence of approximately 2 percent. It was recently reported that a PD susceptibility gene is located on the long arm of human chromosome four. The present invention reports the subsequent identification of a mutation in the alpha synuclein gene, which codes for a presynaptic protein thought to be involved in neuronal plasticity. The finding of a specific molecular alteration which is causative for PD will permit the detailed understanding of the pathophysiology of the disorder, which will lead to potential therapeutic interventions, as well as a means for diagnosing individuals having an increased risk of developing the disease. |
申请公布号 |
AU8163798(A) |
申请公布日期 |
1999.01.04 |
申请号 |
AU19980081637 |
申请日期 |
1998.06.25 |
申请人 |
THE GOVERNMENT OF THE UNITED STATES OF AMERICA, AS REPRESENTED |
发明人 |
MIHAEL H. POLYMEROPOULOS;CHRISTIAN LAVEDAN;ELISABETH LEROY;ROBERT L. NUSSBAUM;WILLIAM G. JOHNSON;ROGER C. DUVOISIN |
分类号 |
A61K48/00;C07K14/47;C12N15/12 |
主分类号 |
A61K48/00 |
代理机构 |
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代理人 |
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主权项 |
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地址 |
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