An apparently sporadic case with parkin gene mutation in a Korean woman

Objective: To report the clinical features and results of iodine I 123-2 be ta -carbomerhoxy-3 beta-(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. Design: Case report with molecular genetic analysis. Patient and 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 [I-123]-2 beta -Carbomethoxy-3 beta-(4-iodopheny l)- tropane single photon emission computed tomography showed severe reduct ion of specific striatal CIT binding, comparable to that of Parkinson disea se. The polymerase chain reaction products from the parkin gene showed homo zygous er;on 4 deletion. Conclusion: In this sporadic juvenile Parkinson disease case, severe nigros triatal dopaminergic damage and homozygous exon 4 deletion in the pall:in g ene were demonstrated.