title: A new F-box protein 7 gene mutation causing typical Parkinson's disease.
abstract: BACKGROUND
  Recessive mutations in the F-box protein 7 gene (FBXO7; PARK15) have been identified as a cause of the parkinsonian-pyramidal syndrome. Here, we report clinical and genetic findings in a Turkish family with novel FBXO7 mutations.
  
  
  METHODS
  Whole exome and targeted Sanger sequencing were performed for genetic analysis in a family with two members affected by Parkinson's disease (PD). All family members underwent detailed clinical, mental, and neurological examination.
  
  
  RESULTS
  The new p.L34R (c.101 T>G) FBXO7 mutation was detected in a homozygous state in two Turkish sibs with typical levodopa-responsive PD.
  
  
  CONCLUSIONS
  This is the first time a FBXO7 mutation has been identified that causes a phenotype compatible with typical idiopathic PD and presents with some of its common nonmotor features, such as rapid eye movement sleep behavior disorder, depression, and anxiety.
authors.affiliation: Behavioral Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.|Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, and DZNE, German Center for Neurodegenerative Diseases, Tübingen, Germany.
authors.forename: Ebba
authors.initials: E
authors.lastname: Lohmann
authors.affiliation: Sorbonne Université, UPMC Univ Paris 06, UM 1127, ICM, Paris, France; Inserm, U 1127, ICM, Paris, France; Cnrs, UMR 7225, ICM, Paris, France; ICM, Paris, F-75013, Paris, France.
authors.forename: Anne-Sophie
authors.initials: AS
authors.lastname: Coquel
authors.affiliation: Sorbonne Université, UPMC Univ Paris 06, UM 1127, ICM, Paris, France; Inserm, U 1127, ICM, Paris, France; Cnrs, UMR 7225, ICM, Paris, France; ICM, Paris, F-75013, Paris, France.
authors.forename: Aurélie
authors.initials: A
authors.lastname: Honoré
authors.affiliation: Behavioral Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
authors.forename: Hakan
authors.initials: H
authors.lastname: Gurvit
authors.affiliation: Behavioral Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
authors.forename: Hasmet
authors.initials: H
authors.lastname: Hanagasi
authors.affiliation: Behavioral Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
authors.forename: Murat
authors.initials: M
authors.lastname: Emre
authors.affiliation: Inserm, U946, Paris, France; Université Paris Diderot, Institut Universitaire d'Hématologie, Paris, France.
authors.forename: Anne L
authors.initials: AL
authors.lastname: Leutenegger
authors.affiliation: Sorbonne Université, UPMC Univ Paris 06, UM 1127, ICM, Paris, France; Inserm, U 1127, ICM, Paris, France; Cnrs, UMR 7225, ICM, Paris, France; ICM, Paris, F-75013, Paris, France.
authors.forename: Valérie
authors.initials: V
authors.lastname: Drouet
authors.affiliation: Fondation Jean Dausset, Centre d'Etude du Polymorphisme Humain (CEPH), Paris, France.
authors.forename: Mourad
authors.initials: M
authors.lastname: Sahbatou
authors.affiliation: Institute for Experimental Medicine, Genetics Department, Istanbul University, Istanbul, Turkey.
authors.forename: Gamze
authors.initials: G
authors.lastname: Guven
authors.affiliation: Institute for Experimental Medicine, Genetics Department, Istanbul University, Istanbul, Turkey.
authors.forename: Nihan
authors.initials: N
authors.lastname: Erginel-Unaltuna
authors.affiliation: Commissariat à l'Energie Atomique, Institut de Génomique, Centre National de Génotypage, Evry, France.
authors.forename: Jean-Francois
authors.initials: JF
authors.lastname: Deleuze
authors.affiliation: Sorbonne Université, UPMC Univ Paris 06, UM 1127, ICM, Paris, France; Inserm, U 1127, ICM, Paris, France; Cnrs, UMR 7225, ICM, Paris, France; ICM, Paris, F-75013, Paris, France.
authors.forename: Suzanne
authors.initials: S
authors.lastname: Lesage
authors.affiliation: Sorbonne Université, UPMC Univ Paris 06, UM 1127, ICM, Paris, France; Inserm, U 1127, ICM, Paris, France; Cnrs, UMR 7225, ICM, Paris, France; ICM, Paris, F-75013, Paris, France.|AP-HP, Hôpital de la Salpêtrière, Département de Génétique et Cytogénétique, F-75013, Paris, France.
authors.forename: Alexis
authors.initials: A
authors.lastname: Brice
mesh_terms: D000369:Aged, 80 and over; D003241:Consanguinity; D044783:F-Box Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010300:Parkinson Disease / Q000235:genetics* / Q000503:physiopathology; D010375:Pedigree; D014421:Turkey
chemical_list: D044783:F-Box Proteins; C489149:FBXO7 protein, human
keywords: FBXO7 gene; Parkinson disease; Turkey; autosomal-recessive; phenotype