title: PLA2G6-associated Dystonia-Parkinsonism: Case Report and Literature Review.
abstract: BACKGROUND
  Phospholipase-associated neurodegeneration (PLAN) caused by PLA2G6 mutations is a recessively inherited disorder with three known phenotypes: the typical infantile onset neuroaxonal dystrophy (INAD); an atypical later onset form (atypical NAD); and the more recently recognized young-onset dystonia-parkinsonism (PLAN-DP).
  
  
  METHODS
  We report the clinical, radiological, and genetic findings of a young Pakistani male with PLAN-DP. We review 11 previously published case reports cited in PubMed, and summarize the demographic, clinical, genetic, and radiological data of the 23 patients described in those articles.
  
  
  CONCLUSIONS
  PLAN-DP presents with diverse motor, autonomic, and neuropsychiatric features and should be considered in the differential diagnosis of patients with young-onset neurodegenerative disorders.
authors.affiliation: Movement  Disorders Clinic, Hazrat Rasool Hospital, Iran University of Medical Sciences, Tehran, Iran.
authors.forename: Siamak
authors.initials: S
authors.lastname: Karkheiran
authors.affiliation: Movement  Disorders Clinic, Hazrat Rasool Hospital, Iran University of Medical Sciences, Tehran, Iran.
authors.forename: Gholam Ali
authors.initials: GA
authors.lastname: Shahidi
authors.affiliation: Department of Neurology, James J. Peters Veterans Affairs Medical Center, Bronx, NY, USA ; Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
authors.forename: Ruth H
authors.initials: RH
authors.lastname: Walker
authors.affiliation: Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, NY, USA ; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA ; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA ; The Friedman Brain and The Mindich Child Health and Development Institutes, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
authors.forename: Coro
authors.initials: C
authors.lastname: Paisán-Ruiz
keywords: PLA2G6; PLAN-DP; young-onset neurodegenerative disease