D Madzar1, C Schulte, T Gasser. 1. Department of Neurodegenerative diseases, Hertie Institute for clinical brain research, University of Tuebingen, Tuebingen, Germany.
Abstract
BACKGROUND AND PURPOSE: Mutations in the leucine-rich repeat kinase gene (LRRK2) have been shown to be the most common genetic cause of both familial and sporadic Parkinson's disease. Patients harboring LRRK2 mutations develop late onset PD that in most cases cannot be clinically distinguished from idiopathic PD. Furthermore, LRRK2 mutations have been reported to result in a broad spectrum of neuropathological alterations including progressive supranuclear palsy (PSP)-like Tau pathology. METHODS: We screened a cohort of 88 clinically confirmed PSP patients for mutations in exon 31. RESULTS: We did not find any of the known mutations or any new variants. CONCLUSIONS: Thus, there is no evidence that mutations in exon 31 of LRRK2 are a major risk factor for PSP. Our study, however, cannot rule out that other genetic variations in LRRK2 may be associated with PSP.
BACKGROUND AND PURPOSE: Mutations in the leucine-rich repeat kinase gene (LRRK2) have been shown to be the most common genetic cause of both familial and sporadic Parkinson's disease. Patients harboring LRRK2 mutations develop late onset PD that in most cases cannot be clinically distinguished from idiopathic PD. Furthermore, LRRK2 mutations have been reported to result in a broad spectrum of neuropathological alterations including progressive supranuclear palsy (PSP)-like Tau pathology. METHODS: We screened a cohort of 88 clinically confirmed PSPpatients for mutations in exon 31. RESULTS: We did not find any of the known mutations or any new variants. CONCLUSIONS: Thus, there is no evidence that mutations in exon 31 of LRRK2 are a major risk factor for PSP. Our study, however, cannot rule out that other genetic variations in LRRK2 may be associated with PSP.
Authors: Monica Sanchez-Contreras; Michael G Heckman; Pawel Tacik; Nancy Diehl; Patricia H Brown; Alexandra I Soto-Ortolaza; Elizabeth A Christopher; Ronald L Walton; Owen A Ross; Lawrence I Golbe; Neill Graff-Radford; Zbigniew K Wszolek; Dennis W Dickson; Rosa Rademakers Journal: Mov Disord Date: 2016-10-06 Impact factor: 10.338