title: GBA Mutations Are Associated With Earlier Onset and Male Sex in Dementia With Lewy Bodies.
abstract: Parkinson's disease (PD) and dementia with Lewy bodies (DLB) are Lewy body diseases characterized by similar pathological features. Several studies have shown a relation between alterations in the glucocerebrosidase gene (GBA) and the development of LB diseases. Here, we explored the role of GBA mutations in Spanish DLB patients.
  
  
  
  GBA mRNA sequences were analyzed in a neuropathological (50 DLB, 43 PD, and 34 control brains) and in a clinical cohort (47 DLB patients and 131 unaffected individuals).
  
  
  
  Sixteen GBA mutation carriers were identified, 5 of which were brains with pure DLB. The most common mutation, E326K, was strongly associated with pure DLB and PD with dementia. GBA mutations were overrepresented in men and associated with earlier DLB onset.
  
  
  
  GBA mutations are also an important risk factor for DLB development in the Spanish population, are associated with earlier disease onset, and are more prevalent in men. © 2015 International Parkinson and Movement Disorder Society.
authors.affiliation: Department of Pathology, Hospital Universitari and Health Sciences Research Institute Germans Trias i Pujol, Universitat Autònoma de Barcelona, Barcelona, Spain.|IVECAT Group, Health Sciences Research Institute Germans Trias i Pujol, Badalona, Spain.
authors.forename: Ana
authors.initials: A
authors.lastname: Gámez-Valero
authors.affiliation: Department of Pathology, Hospital Universitari and Health Sciences Research Institute Germans Trias i Pujol, Universitat Autònoma de Barcelona, Barcelona, Spain.|Unitat d'Antropologia Biològica, Departament de Biologia Animal, Biologia Vegetal i Ecologia, Universitat Autònoma de Barcelona, Barcelona, Spain.
authors.forename: Patricia
authors.initials: P
authors.lastname: Prada-Dacasa
authors.affiliation: Unitat d'Antropologia Biològica, Departament de Biologia Animal, Biologia Vegetal i Ecologia, Universitat Autònoma de Barcelona, Barcelona, Spain.
authors.forename: Cristina
authors.initials: C
authors.lastname: Santos
authors.affiliation: Department of Pathology, Hospital Universitari and Health Sciences Research Institute Germans Trias i Pujol, Universitat Autònoma de Barcelona, Barcelona, Spain.
authors.forename: Cristina
authors.initials: C
authors.lastname: Adame-Castillo
authors.affiliation: Department of Neurology, Hospital Universitari de Bellvitge, L'Hospitalet de Llobregat, Spain.
authors.forename: Jaume
authors.initials: J
authors.lastname: Campdelacreu
authors.affiliation: Department of Neurology, Hospital Universitari de Bellvitge, L'Hospitalet de Llobregat, Spain.
authors.forename: Ramón
authors.initials: R
authors.lastname: Reñé
authors.affiliation: Department of Neurology, Hospital Universitari de Bellvitge, L'Hospitalet de Llobregat, Spain.
authors.forename: Jordi
authors.initials: J
authors.lastname: Gascón-Bayarri
authors.affiliation: Department of Neurology, Hospital Universitari Germans Trias i Pujol, Badalona, Barcelona, Spain.
authors.forename: Lourdes
authors.initials: L
authors.lastname: Ispierto
authors.affiliation: Department of Neurology, Hospital Universitari Germans Trias i Pujol, Badalona, Barcelona, Spain.
authors.forename: Ramiro
authors.initials: R
authors.lastname: Álvarez
authors.affiliation: Department of Pathology, Hospital Universitari and Health Sciences Research Institute Germans Trias i Pujol, Universitat Autònoma de Barcelona, Barcelona, Spain.
authors.forename: Aurelio
authors.initials: A
authors.lastname: Ariza
authors.affiliation: Department of Pathology, Hospital Universitari and Health Sciences Research Institute Germans Trias i Pujol, Universitat Autònoma de Barcelona, Barcelona, Spain.
authors.forename: Katrin
authors.initials: K
authors.lastname: Beyer
mesh_terms: D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D005260:Female; D005962:Glucosylceramidase / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D020961:Lewy Body Disease / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D012737:Sex Factors; D013030:Spain
chemical_list: D005962:Glucosylceramidase
keywords: GBA mutations; Parkinson's disease; dementia with Lewy bodies