LRRK2
单倍型
遗传学
突变
疾病
帕金森病
基因
生物
医学
基因型
内科学
作者
Benoît Funalot,William C. Nichols,Jordi Pérez‐Tur,Géraldine Mercier,G Lucotte
出处
期刊:Genetic Testing
[Mary Ann Liebert, Inc.]
日期:2006-01-01
卷期号:10 (4): 290-293
被引量:15
标识
DOI:10.1089/gte.2006.10.290
摘要
Several pathogenic mutations in the LRRK2 gene have been implicated in familial and sporadic cases of Parkinson's disease (PD). We screened 103 sporadic French PD patients for the presence of the LRRK2 R1441G and G2019S mutations. The R1441G mutation was absent in our PD sporadic cases, but the G2019S mutation was present in 2 of them (1.9%). Clinical features in our 2 patients were not different from classic PD. One of our patients was of Berberian (North Africa) origin. Our 2 patients displayed genetic profiles consistent with the same ancestral haplotype as previously reported for carriers of the LRRK2 G2019S mutation.
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