27 research outputs found
Hereditary late-onset chorea without significant dementia: genetic evidence for substantial phenotypic variation in Huntington's disease
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22152___.PDF (publisher's version ) (Open Access
Lrrk2 R1441C parkinsonism is clinically similar to sporadic Parkinson disease
10.1212/01.wnl.0000304044.22253.03Neurology7016 PART 21456-146
Evaluation of the interaction between LRRK2 and PARK16 loci in determining risk of Parkinson's disease: analysis of a large multicenter study
A recent study MacLeod et al. has shown that an interaction between variants at the LRRK2 and PARK16 loci influences risk of development of Parkinson's disease (PD). Our study examines the proposed interaction between LRRK2 and PARK16 variants in modifying PD risk using a large multicenter series of PD patients (7715) and controls (8261) from sites participating in the Genetic Epidemiology of Parkinson's Disease Consortium. Our data does not support a strong direct interaction between LRRK2 and PARK16 variants; however, given the role of retromer and lysosomal pathways in PD, further studies are warranted. © 2016 Elsevier Inc