title: Screening for LRRK2 R1441 mutations in a cohort of PSP patients from Germany.
abstract: OBJECTIVE
  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.
authors.affiliation: Department of Neurodegenerative diseases, Hertie Institute for clinical brain research, University of Tuebingen, Tuebingen, Germany.
authors.forename: D
authors.initials: D
authors.lastname: Madzar
authors.forename: C
authors.initials: C
authors.lastname: Schulte
authors.forename: T
authors.initials: T
authors.lastname: Gasser
mesh_terms: D000368:Aged; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D005858:Germany; D006239:Haplotypes; D006801:Humans; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D008297:Male; D008875:Middle Aged; D009154:Mutation; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D013494:Supranuclear Palsy, Progressive / Q000235:genetics*
chemical_list: C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases