title: Partial trisomy 4q associated with young-onset dopa-responsive parkinsonism.
abstract: OBJECTIVE
  To describe a patient who developed a young-onset, dopa-responsive parkinsonism linked to a de novo heterozygous interstitial duplication 4q.
  
  
  METHODS
  Case report.
  
  
  METHODS
  Movement Disorder Outpatient Clinic at the University Hospital Centre, Liège, Belgium.
  
  
  METHODS
  A 31-year-old woman.
  
  
  METHODS
  Clinical, neuroimaging, and genetic data.
  
  
  RESULTS
  The duplicated region contains 150 known genes, including the α-synuclein (SNCA) gene locus. Motor and 6-[(18)F]fluoro-L-dopa positron emission tomography features are similar to those previously reported in heterozygote SNCA duplication carriers. Altered expression of other genes contained in the duplicated region may contribute to clinical features that are uncommon in the phenotypic spectrum of SNCA multiplications such as delayed developmental psychomotor milestones during infancy and musculoskeletal abnormalities.
  
  
  CONCLUSIONS
  This case report provides new insights on the genetic basis of parkinsonism.
authors.affiliation: MOVERE Group, Department of Neurology, University Hospital Center of Liège, and Cyclotron Research Center, University of Liège, Belgium. ggarraux@ulg.ac.be
authors.forename: Gaëtan
authors.initials: G
authors.lastname: Garraux
authors.forename: Jean-Hubert
authors.initials: JH
authors.lastname: Caberg
authors.forename: Jean-François
authors.initials: JF
authors.lastname: Vanbellinghen
authors.forename: Mauricette
authors.initials: M
authors.lastname: Jamar
authors.forename: Vincent
authors.initials: V
authors.lastname: Bours
authors.forename: Gustave
authors.initials: G
authors.lastname: Moonen
authors.forename: Dominique
authors.initials: D
authors.lastname: Dive
mesh_terms: D000328:Adult; D017668:Age of Onset; D000978:Antiparkinson Agents / Q000627:therapeutic use*; D002894:Chromosomes, Human, Pair 4; D004295:Dihydroxyphenylalanine / Q000031:analogs & derivatives; D018491:Dopamine Agonists / Q000627:therapeutic use; D005260:Female; D020440:Gene Duplication; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology; D007621:Karyotyping; D007980:Levodopa / Q000627:therapeutic use*; D008279:Magnetic Resonance Imaging; D010300:Parkinson Disease / Q000188:drug therapy* / Q000235:genetics*; D049268:Positron-Emission Tomography; D019275:Radiopharmaceuticals; D014314:Trisomy / Q000503:physiopathology*; D051844:alpha-Synuclein / Q000235:genetics
chemical_list: D000978:Antiparkinson Agents; D018491:Dopamine Agonists; D019275:Radiopharmaceuticals; C497604:SNCA protein, human; D051844:alpha-Synuclein; C043437:fluorodopa F 18; D007980:Levodopa; D004295:Dihydroxyphenylalanine