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Updated: Aug 9, 2026

The Use of Primary Human Fibroblasts for Monitoring Mitochondrial Phenotypes in the Field of Parkinson's Disease
Published on: October 3, 2012
Parkin gene causing benign autosomal recessive juvenile parkinsonism
P Nisipeanu1, R Inzelberg, S Abo Mouch
1Department of Neurology, Hillel Yaffe Medical Center, Hadera, Israel. neurology@hillel-yaffe.helth.gov.il
Abstract:
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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