Abstract
A genetic marker screening panel, ParkScreen, optimized for simultaneous marker amplification, was constructed to test or exclude linkage in families with parkinsonism or Parkinson’s disease, using only a few affected individuals per family. ParkScreen functionality was proven by detection of linkage to PARK2 in a family with known Parkin mutations, exclusion of linkage to several of the known loci, and detection of suggestive linkage to PARK8, PARK3, and PARK11 in some families. In a novel approach, we also tested the ability of ParkScreen to screen patients originating from isolated populations. Using apparently sporadic patients from geographically isolated Alpine villages, suggestive linkage to PARK11 was found in one village. ParkScreen is a useful and inexpensive tool that allows the rapid screening of patients in families suitable for clinical follow-up and further characterization in order to identify specific mutations or novel genes.
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Acknowledgments
The authors gratefully acknowledge the study participants. We thank Sara Pedrotti for technical support and Dr. Marcella Devoto, Dr. Carole Ober, and Dr. Maurizio Facheris for helpful comments on the manuscript. The study was supported by the Health Ministry of Autonomous Province of Bolzano and the South Tyrolean Sparkasse Foundation.
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Alessandro De Grandi and Claudia Béu Volpato contributed equally to this work
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De Grandi, A., Volpato, C.B., Bedin, E. et al. ParkScreen: A Low-Cost Rapid Linkage Marker Panel for Parkinson’s Disease. J Mol Neurosci 39, 235–241 (2009). https://doi.org/10.1007/s12031-009-9193-8
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DOI: https://doi.org/10.1007/s12031-009-9193-8