An apparently sporadic case with parkin gene mutation in a Korean woman.
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.
Jeon
B S
BS
Department of Neurology, Movement Disorder Division, Seoul National University Hospital, Chongno-Ku Yunkeun-Dong 28, Seoul 110-744, South Korea. jeonmd@snu.ac.kr
Kim
J M
JM
Lee
D S
DS
Hattori
N
N
Mizuno
Y
Y
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
D011506:Proteins; D019275:Radiopharmaceuticals; C069723:2beta-carbomethoxy-3beta-(4-iodophenyl)tropane; D044767:Ubiquitin-Protein Ligases; C111567:parkin protein; D008025:Ligases; D003042:Cocaine