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- W2048045147 abstract "Essential tremor (ET) is the most common movement disorder worldwide. Inheritance appears to be autosomal dominant with high penetrance. To date, linkage analysis studies have identified three loci on chromosomes 3q13 (ETM1), 2p24.1 (ETM2), and 6p23. Recently Aridon and colleagues. [ [1] Aridon P. Ragonese P. De Fusco M. Salemi G. Casari G. Savettieri G. Further evidence of genetic heterogeneity in familial essential tremor. Parkinsonism Relat Disord. 2008; 14: 15-18 Abstract Full Text Full Text PDF PubMed Scopus (20) Google Scholar ] described an Italian family in which ET is not associated to any of these loci. This finding underlies that only a few families are linked to the previously described loci and further supports the considerable genetic heterogeneity for such disease. Genetic studies are thus hampered by genetic heterogeneity together with variability in diagnostic criteria, incomplete penetrance, and high phenocopy rate. Therefore, despite its high prevalence, no causative genes have been found so far." @default.
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- W2048045147 date "2009-02-01" @default.
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- W2048045147 title "Common mutations in the LRRK2 exon 41 are not responsible for essential tremor in Italian patients" @default.
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- W2048045147 doi "https://doi.org/10.1016/j.parkreldis.2008.04.035" @default.
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