title: Low prevalence of progranulin mutations in Finnish patients with frontotemporal lobar degeneration.
abstract: OBJECTIVE
  Mutations in the progranulin (PGRN) gene have recently been associated with frontotemporal lobar degeneration (FTLD). The frequency of these mutations varies between populations. The aim of this study was to determine mutations and genetic variations of the PGRN gene in Finnish patients with FTLD and FTLD with associated motor neuron disease (FTLD-MND).
  
  
  METHODS
  All exons of the PGRN gene were sequenced from 69 Finnish patients with FTLD. The FTLD-MND phenotype was present in 13 of the 69 patients.
  
  
  RESULTS
  No pathogenic PGRN mutations were identified in the cohort. Eleven sequence variations were detected, of which IVS8 + 15C>T, IVS4-51_-52insAGTC and IVS11 + 25G>A have not been reported previously. At least one single-nucleotide polymorphism (SNP) of PGRN was detected in 83% of patients.
  
  
  CONCLUSIONS
  We conclude that mutations in PGRN are rare among Finnish patients with FTLD and FTLD-MND. However, SNPs were frequent suggesting high genetic variability of the PGRN gene.
authors.affiliation: Department of Neurology, University of Oulu, Oulu, Finland.
authors.forename: J
authors.initials: J
authors.lastname: Krüger
authors.forename: A-L
authors.initials: AL
authors.lastname: Kaivorinne
authors.forename: B
authors.initials: B
authors.lastname: Udd
authors.forename: K
authors.initials: K
authors.lastname: Majamaa
authors.forename: A M
authors.initials: AM
authors.lastname: Remes
mesh_terms: D000328:Adult; D000368:Aged; D015331:Cohort Studies; D015897:Comorbidity; D005260:Female; D005387:Finland / Q000453:epidemiology; D057174:Frontotemporal Lobar Degeneration / Q000453:epidemiology* / Q000235:genetics* / Q000378:metabolism; D020022:Genetic Predisposition to Disease / Q000453:epidemiology / Q000235:genetics; D014644:Genetic Variation; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins / Q000172:deficiency* / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D016472:Motor Neuron Disease / Q000453:epidemiology / Q000235:genetics / Q000378:metabolism; D017354:Point Mutation / Q000235:genetics; D015995:Prevalence; D000077153:Progranulins
chemical_list: C492314:GRN protein, human; D036341:Intercellular Signaling Peptides and Proteins; D000077153:Progranulins