Study of LRRK2 variation in tauopathy: Progressive supranuclear palsy and corticobasal degeneration.
Monica Sanchez-ContrerasMichael G HeckmanPawel TacikNancy DiehlPatricia H BrownAlexandra I Soto-OrtolazaElizabeth A ChristopherRonald L WaltonOwen A RossLawrence I GolbeNeill Graff-RadfordZbigniew K WszolekDennis W DicksonRosa RademakersPublished in: Movement disorders : official journal of the Movement Disorder Society (2016)
Our study confirms the presence of pathogenic and potentially pathogenic LRRK2 mutations in pathologically confirmed primary tauopathies, albeit with low frequency. In contrast to PD, common LRRK2 variants do not appear to play a major role in determining PSP and corticobasal degeneration risk. © 2016 International Parkinson and Movement Disorder Society.
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