Title |
ParkScreen: A Low-Cost Rapid Linkage Marker Panel for Parkinson’s Disease
|
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Published in |
Journal of Molecular Neuroscience, March 2009
|
DOI | 10.1007/s12031-009-9193-8 |
Pubmed ID | |
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. |
X Demographics
Geographical breakdown
Country | Count | As % |
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Unknown | 1 | 100% |
Demographic breakdown
Type | Count | As % |
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Scientists | 1 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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Italy | 2 | 11% |
Spain | 1 | 5% |
Japan | 1 | 5% |
Unknown | 15 | 79% |
Demographic breakdown
Readers by professional status | Count | As % |
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Researcher | 5 | 26% |
Professor | 3 | 16% |
Student > Ph. D. Student | 3 | 16% |
Student > Master | 2 | 11% |
Student > Bachelor | 1 | 5% |
Other | 3 | 16% |
Unknown | 2 | 11% |
Readers by discipline | Count | As % |
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Agricultural and Biological Sciences | 6 | 32% |
Biochemistry, Genetics and Molecular Biology | 4 | 21% |
Environmental Science | 2 | 11% |
Medicine and Dentistry | 2 | 11% |
Economics, Econometrics and Finance | 1 | 5% |
Other | 1 | 5% |
Unknown | 3 | 16% |