Clinical traits of LRRK2-associated Parkinson's disease in Ireland: A link between familial and idiopathic PD
- 作者：David Gosal ; Owen A. Ross ; Joe Wiley ; G. Brent Irvine ; Janet A. Johnston ; Mathias Toft ; Ignacio F. Mata ; Jennifer Kachergus ; Mary Hulihan ; Julie P. Taylor et al.
- 关键词：LRRK2 ; G2019S and Parkinson's disease
- 刊名：Parkinsonism and Related Disorders
- 出版年：2005
- 期刊代码：215_13538020
- 类别：med
- 出版时间：2005
- 卷：11
- 期：6
- 页码：349-352
- 文件大小：132 K
摘要
The role of genetics in parkinsonism has been confirmed over the last decade with the identification of genetic variation in seven genes, which are causative in familial forms of the disorder. A number of pathogenic mutations have been identified in the latest gene LRRK2, with a Gly2019Ser amino acid substitution identified in two siblings and one patient with idiopathic Parkinson's disease from Ireland. The clinical features resemble the idiopathic variant with a tremor predominant clinical picture shared by the siblings, slow progression of symptoms, and no observation of cognitive disturbance in all. The family and the sporadic individual were apparently not related and originated from different regions of Ireland, although haplotype analysis does suggest they share a common founder. The influence of the G2019S substitution on protein function and disease phenotype has yet to be fully resolved, but its elucidation will undoubtedly further our understanding of the mechanisms underlying Parkinson's disease.