title: An apparently sporadic case with parkin gene mutation in a Korean woman.
abstract: OBJECTIVE
  To report the clinical features and results of iodine I 123-2beta-carbomethoxy-3beta-(4-iodophenyl)-tropane (CIT) single photon emission computed tomography and molecular genetic analysis in a Korean woman with juvenile Parkinson disease with deletion in exon 4 of the parkin gene.
  
  
  METHODS
  Case report with molecular genetic analysis.
  
  
  RESULTS
  The patient had bradykinesia, postural imbalance, and postural tremor since the age of 12 years. She developed wearing off early in the disease course. The [(123)I]-2beta-carbomethoxy-3beta-(4-iodophenyl)-tropane single photon emission computed tomography showed severe reduction of specific striatal CIT binding, comparable to that of Parkinson disease. The polymerase chain reaction products from the parkin gene showed homozygous exon 4 deletion.
  
  
  CONCLUSIONS
  In this sporadic juvenile Parkinson disease case, severe nigrostriatal dopaminergic damage and homozygous exon 4 deletion in the parkin gene were demonstrated.
authors.affiliation: Department of Neurology, Movement Disorder Division, Seoul National University Hospital, Chongno-Ku Yunkeun-Dong 28, Seoul 110-744, South Korea. jeonmd@snu.ac.kr
authors.forename: B S
authors.initials: BS
authors.lastname: Jeon
authors.forename: J M
authors.initials: JM
authors.lastname: Kim
authors.forename: D S
authors.initials: DS
authors.lastname: Lee
authors.forename: N
authors.initials: N
authors.lastname: Hattori
authors.forename: Y
authors.initials: Y
authors.lastname: Mizuno
mesh_terms: D000328:Adult; D003042:Cocaine / Q000031:analogs & derivatives; D003342:Corpus Striatum / Q000000981:diagnostic imaging; D005091:Exons / Q000235:genetics*; D005260:Female; D006801:Humans; D008025:Ligases; D020734:Parkinsonian Disorders / Q000000981:diagnostic imaging / Q000235:genetics*; D011506:Proteins / Q000235:genetics*; D019275:Radiopharmaceuticals; D015899:Tomography, Emission-Computed, Single-Photon; D044767:Ubiquitin-Protein Ligases
chemical_list: D011506:Proteins; D019275:Radiopharmaceuticals; C069723:2beta-carbomethoxy-3beta-(4-iodophenyl)tropane; D044767:Ubiquitin-Protein Ligases; C111567:parkin protein; D008025:Ligases; D003042:Cocaine