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Schulte, E.C. ; Stahl, I. ; Czamara, D.* ; Ellwanger, D.C.* ; Eck, S. ; Graf, E. ; Mollenhauer, B.* ; * ; Lichtner, P. ; Haubenberger, D.* ; Pirker, W.* ; Brücke, T.* ; Bereznai, B.* ; Molnar, M.J.* ; Peters, A. ; Gieger, C. ; Müller-Myhsok, B.* ; Trenkwalder, C.* ; Winkelmann, J.

Rare variants in PLXNA4 and Parkinson's disease.

PLoS ONE 8:e79145 (2013)

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Approximately 20% of individuals with Parkinson's disease (PD) report a positive family history. Yet, a large portion of causal and disease-modifying variants is still unknown. We used exome sequencing in two affected individuals from a family with late-onset familial PD followed by frequency assessment in 975 PD cases and 1014 ethnically-matched controls and linkage analysis to identify potentially causal variants. Based on the predicted penetrance and the frequencies, a variant in PLXNA4 proved to be the best candidate and PLXNA4 was screened for additional variants in 862 PD cases and 940 controls, revealing an excess of rare non-synonymous coding variants in PLXNA4 in individuals with PD. Although we cannot conclude that the variant in PLXNA4 is indeed the causative variant, these findings are interesting in the light of a surfacing role of axonal guidance mechanisms in neurodegenerative disorders but, at the same time, highlight the difficulties encountered in the study of rare variants identified by next-generation sequencing in diseases with autosomal dominant or complex patterns of inheritance.

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