Ontology highlight
ABSTRACT:
SUBMITTER: Sanchez-Contreras M
PROVIDER: S-EPMC5269612 | biostudies-literature | 2017 Jan
REPOSITORIES: biostudies-literature
Sanchez-Contreras Monica M Heckman Michael G MG Tacik Pawel P Diehl Nancy N Brown Patricia H PH Soto-Ortolaza Alexandra I AI Christopher Elizabeth A EA Walton Ronald L RL Ross Owen A OA Golbe Lawrence I LI Graff-Radford Neill N Wszolek Zbigniew K ZK Dickson Dennis W DW Rademakers Rosa R
Movement disorders : official journal of the Movement Disorder Society 20161006 1
<h4>Background</h4>Mutations in the leucine-rich repeat kinase 2 gene (LRRK2) are the most common genetic cause of Parkinson's disease (PD). Unexpectedly, tau pathology has been reported in a subset of LRRK2 mutation carriers.<h4>Methods</h4>To estimate the frequency of pathogenic LRRK2 mutations and to evaluate the association of common LRRK2 variants with risk of primary tauopathies, we studied 1039 progressive supranuclear palsy (PSP) and 145 corticobasal degeneration patients from the Mayo C ...[more]