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
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.
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页码:397 / 404
页数:7
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共 93 条
[11]  
Le W.D., Xu P., Jankovic J., Et al., Mutations in NR4A2 associated with familial Parkinson's disease, Nat. Genet., 33, pp. 85-89, (2003)
[12]  
Marx F.P., Holzmann C., Strauss K.M., Et al., Identification and functional characterization of a novel R621C mutation in the Synphilin-1 gene in Parkinson's disease, Hum. Mol. Genet., 12, pp. 1223-1231, (2003)
[13]  
Carr J., de la Fuente-Fernandez R., Schulzer M., Et al., Familial and sporadic Parkinson's disease usually display the same clinical features, Parkinsonism Relat. Disord., 9, pp. 201-204, (2003)
[14]  
Golbe L.I., Di Iorio G., Sanges G., Et al., Clinical genetic-analysis of parkinsons-disease in the contursi kindred, Ann. Neurol., 40, pp. 767-775, (1996)
[15]  
Papapetropoulos S., Paschalis C., Athanassiadou A., Et al., Clinical phenotype in patients with alpha-synuclein Parkinson's disease living in Greece in comparison with patients with sporadic Parkinson's disease, J. Neurol. Neurosurg. Psychiatry, 70, pp. 662-665, (2001)
[16]  
Kruger R., Kuhn W., Muller T., Et al., Ala30Pro mutation in the gene encoding alpha-synuclein in Parkinson's disease, Nat. Genet., 18, pp. 106-108, (1998)
[17]  
Zarranz J.J., Alegre J., Gomez-Esteban J.C., Et al., The new mutation, E46K, of alpha-synuclein causes Parkinson and Lewy body dementia, Ann. Neurol., 55, pp. 164-173, (2004)
[18]  
Vaughan J., Durr A., Tassin J., Et al., The alpha-synuclein Ala53Thr mutation is not a common cause of familial Parkinson's disease: A study of 230 European cases, Ann. Neurol., 44, pp. 270-273, (1998)
[19]  
Galvin J., Lee V., Trojanowski J., Synucleinopathies, Arch. Neurol., 58, pp. 186-190, (2001)
[20]  
Giasson B.I., Higuchi M., Golbe L.I., Et al., Initiation and synergistic fibrillization of tau and alpha-synuclein, Science, 300, pp. 636-640, (2003)