Movement Disorders · 2005 · 99 citations · 13 references
Life SciencesGeneticsNeurologyHuman GeneticsMedical GeneticsNeurogeneticsGenetic DisordersMendelian Neurological DisordersNeurodegenerative DiseasesNeurodegenerative DisordersParkinson DiseaseParkinsonian DisordersCommon Cause AnalysisLrrk2 MutationsParkinson's Disease Genetics
LRRK2 mutations have recently been described in families with Parkinson's disease. Here we show that one of them (G2019S) is present in 6% (7 of 124) unrelated cases of disease in a clinic-based sample series from central Portugal, but not present in 126 controls from the same population. Thus, LRRK2 mutations appear to be a common cause of typical Parkinson's disease and as such will alter clinical practice.
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Mutation in the α-Synuclein Gene Identified in Families with Parkinson's Disease
Mihael H. Polymeropoulos, Christian Lavedan, Elisabeth Leroy et al. · Science · 1997 · 8.2K citations
Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism
Tohru Kitada, Shuichi Asakawa, Nobutaka Hattori et al. · Nature · 1998 · 5.2K citations
Hereditary Early-Onset Parkinson's Disease Caused by Mutations in <i>PINK1</i>
Enza Maria Valente, Patrick M. Abou‐Sleiman, Viviana Caputo et al. · Science · 2004 · 3.5K citations · Full text
Mutations in LRRK2 Cause Autosomal-Dominant Parkinsonism with Pleomorphic Pathology
Alexander Zimprich, Saskia Biskup, Petra Leitner et al. · Neuron · 2004 · 3.1K citations · Full text