title: PLA2G6 Mutations Related to Distinct Phenotypes: A New Case with Early-onset Parkinsonism.
abstract: BACKGROUND
  PLA2G6-associated neurodegeneration (PLAN) is a recessive neurodegenerative disorder characterized by three distinct phenotypes: infantile neuroaxonal dystrophy (INAD), atypical neuroaxonal dystrophy (atypical NAD), and PLA2G6-related dystonia-parkinsonism.
  
  
  METHODS
  A consanguineous index case from Turkey was diagnosed with early-onset Parkinsonism at the Istanbul Faculty of Medicine. She and her unaffected brother were subjected to whole-genome sequencing.
  
  
  RESULTS
  In this report, we describe a 33-year-old index case with parental consanguinity and early-onset Parkinsonism. Whole-genome sequencing of this individual revealed that a homozygous p.R747W mutation in PLA2G6 segregates with the disease in this family.
  
  
  CONCLUSIONS
  This result supports the importance of prioritizing this gene in mutational analysis of autosomal recessive Parkinsonism, and confirms the clinical heterogeneity of PLAN.
authors.affiliation: Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE)-Tübingen, Tübingen, Germany.
authors.forename: Anamika
authors.initials: A
authors.lastname: Giri
authors.affiliation: Genetics Department, Institute for Experimental Medicine, Istanbul University, Istanbul, Turkey.
authors.forename: Gamze
authors.initials: G
authors.lastname: Guven
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: Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
authors.forename: Ann-Kathrin
authors.initials: AK
authors.lastname: Hauser
authors.affiliation: Genetics Department, Institute for Experimental Medicine, Istanbul University, Istanbul, Turkey.
authors.forename: Nihan
authors.initials: N
authors.lastname: Erginul-Unaltuna
authors.affiliation: Behavioral Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
authors.forename: Basar
authors.initials: B
authors.lastname: Bilgic
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: Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE)-Tübingen, Tübingen, Germany.
authors.forename: Peter
authors.initials: P
authors.lastname: Heutink
authors.affiliation: Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE)-Tübingen, Tübingen, Germany.
authors.forename: Thomas
authors.initials: T
authors.lastname: Gasser
authors.affiliation: Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE)-Tübingen, Tübingen, Germany; Behavioral Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
authors.forename: Ebba
authors.initials: E
authors.lastname: Lohmann
authors.affiliation: Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE)-Tübingen, Tübingen, Germany.
authors.forename: Javier
authors.initials: J
authors.lastname: Simón-Sánchez
keywords: DCNT1; LRRK2; PLA2G6; parkinsonism