title: Unusual case of levodopa-responsive camptocormia in a patient with negative dopamine transporter scan and normal DYT 5 gene.
abstract: OBJECTIVE
  To describe an unusual case of camptocormia responding to levodopa.
  
  
  METHODS
  We present a case of camptocormia with a sustained excellent response to levodopa in a patient with negative dopamine transporter and no DYT 5 genetic mutations.
  
  
  RESULTS
  We present a 52-year-old man with 2 years' history of progressive camptocormia, with nearly normal posture while standing and forward trunk flexion close to 90 degrees after walking for less than a minute. His posture completely resolved in the supine position. There were no pyramidal or extrapyramidal signs or dystonia in other locations. Family history was noncontributory except 1 paternal aunt with Parkinson disease. There was no history of antidopaminergic exposure. Workup, including brain, cervical, thoracic, and lumbar spine magnetic resonance imaging and paraspinal muscle electromyography, was unremarkable. Serum ceruloplasmin level was normal. Genetic testing for dopa-responsive dystonia, including GTP cyclohydrolase 1 (GCH 1) and tyrosine hydroxylase (TH) gene mutations (sequencing and deletion), was negative. DYT 6 (THAP1) gene mutation was not found, and dopamine transporter scan imaging obtained 4 years after onset of symptoms was normal. The patient has had an excellent response to levodopa sustained for the past 2 years.
  
  
  CONCLUSIONS
  Levodopa should be considered in camptocormia even when not associated with neurodegenerative parkinsonism or DYT 5 gene mutation.
authors.affiliation: *Center for Neurological Restoration, Cleveland Clinic Foundation; and †Cleveland Clinic Lerner College of Medicine, Case Western Reserve University, Cleveland, OH.
authors.forename: Srivadee
authors.initials: S
authors.lastname: Oravivattanakul
authors.forename: Hesham
authors.initials: H
authors.lastname: Abboud
authors.forename: Hubert
authors.initials: H
authors.lastname: Fernandez
authors.forename: Ilia
authors.initials: I
authors.lastname: Itin
mesh_terms: D051017:Apoptosis Regulatory Proteins / Q000235:genetics; D003342:Corpus Striatum / Q000378:metabolism; D004268:DNA-Binding Proteins / Q000235:genetics; D050483:Dopamine Plasma Membrane Transport Proteins / Q000378:metabolism*; D020821:Dystonic Disorders / Q000235:genetics*; D006136:GTP Cyclohydrolase / Q000235:genetics*; D006801:Humans; D007980:Levodopa / Q000627:therapeutic use*; D008297:Male; D008875:Middle Aged; D009134:Muscular Atrophy, Spinal / Q000188:drug therapy* / Q000235:genetics; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics; D013121:Spinal Curvatures / Q000188:drug therapy* / Q000235:genetics; D014446:Tyrosine 3-Monooxygenase / Q000235:genetics
chemical_list: D051017:Apoptosis Regulatory Proteins; D004268:DNA-Binding Proteins; D050483:Dopamine Plasma Membrane Transport Proteins; D009687:Nuclear Proteins; C474080:THAP1 protein, human; D007980:Levodopa; D014446:Tyrosine 3-Monooxygenase; D006136:GTP Cyclohydrolase