| Autor: |
M. Farrer, A. Destée, C. Levecque, A. Singleton, S. Engelender, E. Becquet, V. Mouroux, F. Richard, L. Defebvre, R. Crook, D. Hernandez, C.A. Ross, J. Hardy, P. Amouyel, M-C. Chartier-Harlin |
| Jazyk: |
angličtina |
| Rok vydání: |
2001 |
| Předmět: |
|
| Zdroj: |
Neurobiology of Disease, Vol 8, Iss 2, Pp 317-323 (2001) |
| Druh dokumentu: |
article |
| ISSN: |
1095-953X |
| DOI: |
10.1006/nbdi.2000.0326 |
| Popis: |
α-Synuclein is present in Lewy bodies of patients with both sporadic and familial Parkinson's disease. However, pathogenic mutations Ala30Pro and Ala53Thr in α-synuclein are rare causes of disease. Synphilin-1 has been demonstrated to associate with α-synuclein and promote the formation of cytosolic inclusions in vitro. Two-point genetic linkage analysis of a dinucleotide repeat within the synphilin-1 gene initially implicated this locus as a cause of Parkinson's disease in three of nine families. However, subsequent haplotype, sequencing, and association analyses in these three families and an independent case-control series suggest that variability within the locus does not confer susceptibility to Parkinson's disease. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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Full Text from ScienceDirect