Evaluation of LRRK2 G2019S penetrance -: Relevance for genetic counseling in Parkinson disease

被引:105
作者
Goldwurm, S.
Zini, M.
Mariani, L.
Tesei, S.
Miceli, R.
Sironi, F.
Clementi, M.
Bonifati, V.
Pezzoli, G.
机构
[1] Ist Clin Perfezionamento, Parkinson Inst, I-20126 Milan, Italy
[2] Ist Nazl Studio & Cura Tumori, Unit Med Stat & Biometry, Milan, Italy
[3] Fdn Osped Maggiore Policlin, Mol Genet Lab, Milan, Italy
[4] Univ Padua, Dept Pediat, I-35100 Padua, Italy
[5] Erasmus Univ, Med Ctr, Dept Clin Genet, NL-3000 DR Rotterdam, Netherlands
关键词
D O I
10.1212/01.wnl.0000254483.19854.ef
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
We report the results of a family-based study of LRRK2 G2019S penetrance in Parkinson disease. We studied 19 families identified through the analysis of unrelated consecutive patients. The cumulative incidence of the disease was 15% at 60 years, 21% at 70 years, and 32% at 80 years. This study provides accurate estimates of G2019S penetrance by minimizing the selection bias.
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收藏
页码:1141 / 1143
页数:3
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