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Neurology 2001;56:1573-1575
© 2001 American Academy of Neurology
Brief Communications

Parkin gene causing benign autosomal recessive juvenile parkinsonism

P. Nisipeanu, MD, PhD;, R. Inzelberg, MD;, S. Abo Mouch, MD;, R. L. Carasso, MD, MSc;, S. C. Blumen, MD;, J. Zhang, MD;, H. Matsumine, MD, PhD;, N. Hattori, MD, PhD; and Y. Mizuno, MD, PhD

From the Departments of Neurology (Drs. Nisipeanu, Inzelberg, Carasso, and Blumen) and Internal Medicine B (Dr. Abo Mouch), Hillel Yaffe Medical Center, Hadera, and Rappaport Faculty of Medicine, Technion, Haifa (Drs. Inzelberg, Abo Mouch, Carasso, and Blumen), Israel; and Department of Neurology, Juntendo University Medical School, Tokyo, Japan (Drs. Zhang, Matsumine, Hattori, and Mizuno).

Address correspondence and reprint requests to Dr. P. Nisipeanu, Department of Neurology, Hillel Yaffe Medical Center, Hadera, 38100, Israel; e-mail: neurology{at}hillel-yaffe.health.gov.il

Autosomal recessive juvenile parkinsonism (AR-JP) is an early-onset parkinsonism caused by exonic deletions or point mutations in the parkingene. The relationship between the type of the genetic defect and the clinical presentation, the response to therapy, and the evolution have not been yet determined. The authors describe a single-basepair deletion at nucleotide 202 in exon 2 of the parkin gene in a kindred with a benign clinical course.




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R. Inzelberg, N. Hattori, P. Nisipeanu, S. Abo Mouch, S.C. Blumen, R.L. Carasso, and Y. Mizuno
Camptocormia, axial dystonia, and parkinsonism: Phenotypic heterogeneity of a parkin mutation
Neurology, April 22, 2003; 60(8): 1393 - 1394.
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