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LRRK2 mutations in a clinic‐based cohort of Parkinson's disease
Author(s) -
Scholz S.,
Mandel R. J.,
Fernandez H. H.,
Foote K. D.,
Rodriguez R. L.,
Barton E.,
Munson S.,
Singleton A.,
Okun M. S.
Publication year - 2006
Publication title -
european journal of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.881
H-Index - 124
eISSN - 1468-1331
pISSN - 1351-5101
DOI - 10.1111/j.1468-1331.2006.01472.x
Subject(s) - lrrk2 , medicine , parkinsonism , parkinson's disease , mutation , genetic testing , disease , phenotype , cohort , genetics , clinical phenotype , bioinformatics , oncology , gene , biology
In the last decade, major breakthroughs in the understanding of genetic contributions to Parkinson's disease (PD) have been achieved. Recently, mutations in LRRK2 , encoding dardarin, have been found to be responsible for an autosomal dominant parkinsonism (OMIM 607060). We screened 311 subjects (cases: n = 202, controls: n = 109) for the three previously reported LRRK2 mutations. Our investigation revealed a sporadic case of PD with a heterozygous mutation G2019S (c.6055G>A). Here, we present the clinical phenotype of this patient and discuss the implications of genetic testing for the G2019S mutation in patients with sporadic PD.