ParkScreen: A Low-Cost Rapid Linkage Marker Panel for Parkinson’s Disease View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2009-09

AUTHORS

Alessandro De Grandi, Claudia Béu Volpato, Elisa Bedin, Cristian Pattaro, Fabio Marroni, Irene Pichler, Andrew Antony Hicks, Giorgio Casari, Peter Paul Pramstaller

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. More... »

PAGES

235-241

References to SciGraph publications

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s12031-009-9193-8

DOI

http://dx.doi.org/10.1007/s12031-009-9193-8

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1002051873

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/19319700


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