Abstract
AbstractParkinson’s disease (PD) guidelines lack clear criteria for genetic evaluation. We assessed the yield and rationale of genetic testing for PD in a routine clinical setting on a multicenter cohort of 149 early-onset and familial patients by exome sequencing and semi-quantitative multiplex ligation-dependent probe amplification of evidence-based PD-associated gene panel. We show that genetic testing for PD should be considered for both early-onset and familial patients alike, and a clinical yield of about 10% in the Caucasian population can be expected.
Funder
Javna Agencija za Raziskovalno Dejavnost RS
Hrvatska Zaklada za Znanost
Ministarstvo Prosvete, Nauke i Tehnološkog Razvoja
Publisher
Springer Science and Business Media LLC
Subject
Cellular and Molecular Neuroscience,Neurology (clinical),Neurology
Cited by
6 articles.
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