Article
Haplotype analysis of Lrrk2 R1441H carriers with parkinsonism.
Parkinsonism & related disorders - 1 Jul 2009
Ross Owen A, Spanaki Cleanthe, Griffith Alida, Lin Chin-Hsien, Kachergus Jennifer, Haugarvoll Kristoffer, Latsoudis Helen, Plaitakis Andreas, Ferreira Joaquim J, Sampaio Cristina, Bonifati Vincenzo, Wu Ruey-Meei, Zabetian Cyrus P, Farrer Matthew J
Abstract excerpt
The Roc domain of the Lrrk2 protein harbors two pathogenic mutations which cause autosomal dominant parkinsonism (R1441C and R1441G). A third putatively pathogenic variant (R1441H) has been identified in four probands of diverse ethnicity with parkinsonism. Herein we show that the R1441H substitutions lie on different haplotypes within our patients, confirming this codon as a mutational hotspot. The absence of...
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