Study of LRRK2 variation in tauopathy: Progressive supranuclear palsy and corticobasal degeneration.

ABSTRACT:

Background

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.

Methods

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 Clinic Florida brain bank and 1790 controls ascertained at Mayo Clinic. Sanger sequencing of LRRK2 exons 30, 31, 35, and 41 was performed in all patients, and genotyping of all 17 known exonic variants with minor allele frequency >0.5% was performed in patients and controls.

Results

LRRK2 muta

SUBMITTER: Sanchez-Contreras M 

PROVIDER: S-EPMC5269612 | biostudies-literature | 2017 Jan

REPOSITORIES: biostudies-literature