Genetics of Parkinsonism

被引：11

作者：

Lewthwaite A.J. ^{[1
]}

Nicholl D.J. ^{[1
]}

机构：

[1] Department of Clinical Neuroscience, School of Medicine, University of Birmingham, Birmingham B15 2TT, Edgbaston

来源：

Current Neurology and Neuroscience Reports | 2005年 / 5卷 / 5期

关键词：

G2019S Mutation; Parkin Gene; Parkin Mutation; Autosomal Recessive Juvenile Parkinsonism; PINK1 Mutation;

D O I：

10.1007/s11910-005-0064-6

中图分类号：

学科分类号：

摘要：

Parkinson's disease (PD) is the second most common neurodegenerative disease after Alzheimer's disease. Some debate still exists as to whether PD is predominantly environmental or genetic in etiology. The genetic hypothesis of PD etiology has been driven recently by the identification of a number of PD loci. This review deals with each of these loci, discussing the latest data and evidence available. Of particular interest are the recently described mutations in the PINK 1 (PARK6) and LRRK2 (PARK8) genes. We also consider the impact of these latest developments on our understanding of sporadic PD and on our everyday practice with PD patients. Copyright © 2005 by Current Science Inc.

引用

页码：397 / 404

页数：7

共 93 条

[21]

Masliah E., Rockenstein E., Veinbergs I., Et al., Beta-amyloid peptides enhances alpha-synuclein accumulation and neuronal deficits in a transgenic mouse model linking Alzheimer's disease and Parkinson's disease, Proc. Nat. Acad. Sci., 98, pp. 12245-12250, (2001)

[22]

Feany M.B., Bender W.W., A Drosophila model of Parkinson's disease, Nature, 404, pp. 394-398, (2000)

[23]

Masliah E., Rockenstein E., Veinbergs I., Et al., Dopaminergic loss and inclusion body formation in alpha-synuclein mice: Implications for neurodegenerative disorders, Science, 287, pp. 1265-1269, (2000)

[24]

Kahle P.J., Neumann M., Ozmen L., Et al., Subcellular localization of wild-type and Parkinson's disease-associated mutant alpha-synuclein in human and transgenic mouse brain, J. Neurosci., 20, pp. 6365-6373, (2000)

[25]

Farrer M., Lockhart P., Singleton A., Et al., Alpha-synuclein gene haplotypes are associated with Parkinson's disease, Hum. Mol. Genet., 10, pp. 1847-1851, (2001)

[26]

Pals P., Lincoln S., Manning J., Et al., Alpha-Synuclein promoter confers susceptibility to Parkinson's disease, Ann. Neurol., 56, pp. 591-595, (2004)

[27]

Tan E.K., Chai A., Teo Y.Y., Et al., Alpha-synuclein haplotypes implicated in risk of Parkinson's disease, Neurology, 62, pp. 128-131, (2004)

[28]

Muenter M.D., Forno L.S., Hornykiewicz O., Et al., Hereditary form of Parkinsonism-dementia, Ann. Neurol., 43, pp. 768-781, (1998)

[29]

Singleton A.B., Farrer M., Johnson J., Et al., Alpha-Synuclein locus triplication causes Parkinson's disease, Science, 302, (2003)

[30]

Farrer M., Kachergus J., Forno L., Et al., Comparison of kindreds with parkinsonism and alpha-synuclein genomic triplications, Ann. Neurol., 55, pp. 174-179, (2004)

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