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An Apparently Sporadic Case With Parkin Gene Mutation in a Korean Woman
Beom S. Jeon, MD, PhD;
Jong-Min Kim, MD;
Dong-Soo Lee, MD, PhD;
Nobutaka Hattori, MD, PhD;
Yoshikuni Mizuno, MD, PhD
Arch Neurol. 2001;58:988-989.
Objective To report the clinical features and results of iodine I 123-2ß-carbomethoxy-3ß-(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 [123I]-2ß-carbomethoxy-3ß-(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.
Conclusion In this sporadic juvenile Parkinson disease case, severe nigrostriatal
dopaminergic damage and homozygous exon 4 deletion in the parkin gene were demonstrated.
From the Departments of Neurology (Drs Jeon and Kim) and Nuclear Medicine
(Dr Lee), Seoul National University College of Medicine, and the National
University Hospital, Clinical Research Institute (Drs Jeon, Kim, and Lee),
Seoul, South Korea and the Department of Neurology, Juntendo University College
of Medicine, Tokyo, Japan (Drs Hattori and Mizuno).
Corresponding author and reprints: Beom S. Jeon, MD, PhD, Department
of Neurology, Movement Disorder Division, Seoul National University Hospital,
Chongno-Ku Yunkeun-Dong 28, Seoul 110-744, South Korea (e-mail: jeonmd{at}snu.ac.kr).
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