title: PRKRA Mutation Causing Early-Onset Generalized Dystonia-Parkinsonism (DYT16) in an Italian Family.
authors.affiliation: Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.
authors.forename: Marialuisa
authors.initials: M
authors.lastname: Quadri
authors.affiliation: Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.
authors.forename: Simone
authors.initials: S
authors.lastname: Olgiati
authors.affiliation: Department of Neurology and Rehabilitation, University Hospital Arcispedale S. Anna, Ferrara, Italy.
authors.forename: Mariachiara
authors.initials: M
authors.lastname: Sensi
authors.affiliation: Department of Reproduction and Growth, UOL of Medical Genetics, University Hospital S. Anna, Ferrara, Italy.
authors.forename: Francesca
authors.initials: F
authors.lastname: Gualandi
authors.affiliation: Department of Biomedical and Specialistic Surgical Sciences, University Hospital Arcispedale S. Anna, Ferrara, Italy.
authors.forename: Elisabetta
authors.initials: E
authors.lastname: Groppo
authors.affiliation: Department of Biomedical and Specialistic Surgical Sciences, University Hospital Arcispedale S. Anna, Ferrara, Italy.
authors.forename: Vittorio
authors.initials: V
authors.lastname: Rispoli
authors.affiliation: Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.
authors.forename: Josja
authors.initials: J
authors.lastname: Graafland
authors.affiliation: Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.
authors.forename: Guido J
authors.initials: GJ
authors.lastname: Breedveld
authors.affiliation: Department of Neurology and Psychiatry, Sapienza University of Rome and, IRCSS Neuromed, Pozzilli, Italy.
authors.forename: Giovanni
authors.initials: G
authors.lastname: Fabbrini
authors.affiliation: Department of Neurology and Psychiatry, Sapienza University of Rome and, IRCSS Neuromed, Pozzilli, Italy.
authors.forename: Alfredo
authors.initials: A
authors.lastname: Berardelli
authors.affiliation: Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Bonifati
mesh_terms: D017668:Age of Onset; D004421:Dystonia / Q000175:diagnosis / Q000235:genetics*; D020821:Dystonic Disorders / Q000235:genetics*; D005260:Female; D006801:Humans; D007558:Italy; D008297:Male; D009154:Mutation / Q000235:genetics*; D020734:Parkinsonian Disorders / Q000235:genetics*; D016601:RNA-Binding Proteins / Q000235:genetics*
chemical_list: C104647:PRKRA protein, human; D016601:RNA-Binding Proteins
keywords: DYT16; dystonia; founder mutation; genetics; parkinsonism