原发性震颤的遗传学进展

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原发性震颤的遗传学进展
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基金项目:国家自然科学基金(30871351, 30971534), 教育部新世纪优秀人才支持计划(NCET-080563), 湖南省杰出青年基金(09JJ1005), 教育部留学归国人员科研起动基金(邓昊), 中南大学“升华学者计划”特聘教授岗位(邓昊)和湖南省高校科技创新团队资助项目

Progress in Genetics of Essential Tremor

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This work was supported by grants from The National Natural Science Foundation of China(30871351, 30971534), Trans-Century Training Program Foundation for the Talents by The State Education Commission (NCET-080563), The Fund for Distinguished Young Scholar of Hunan Province (09JJ1005), The Scientific Research Foundation for the Returned Overseas Chinese Scholars, State Education Ministry (H.D.), Sheng Hua Scholars Program and Outstanding Youth Foundation of Central South University, China (H.D.) and Aid program for Science and Technology Innovative Research Team in Higher Educational Institutions of Hunan Province

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摘要:

就原发性震颤(essential tremor, ET)的遗传学基础作一探讨．ET是最常见的神经疾病之一，其临床表现复杂多样，病因机制尚不清楚．常有家族史，目前已定位3个疾病基因位点，最近发现多巴胺受体D3(the dopamine receptor D3 gene，DRD3) 和LINGO1基因变异可能与ET发病相关．

Abstract:

Essential tremor is one of the most common neurological disorders which the causes remain unknown. The clinical feature is heterogeneous and many ET patients have positive family history. Thus far, three gene loci have been identified and two susceptibility genes including DRD3 (the dopamine receptor D3 gene) and LINGO1 (the Leucine-rich repeat-and lg domain-containing NOGO receptor-interacting protein 1 gene) have been reported recently. The genetics of essential tremor will be summarized.

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梁卉,虢毅,邓昊.原发性震颤的遗传学进展[J].生物化学与生物物理进展,2011,38(1):5-10

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收稿日期:2010-02-08
最后修改日期:2010-08-04
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在线发布日期: 2010-08-17
出版日期: 2011-01-20

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