In this study exome sequencing was used in two affected individuals from a family with late-onset familial PD to identify a potentially causal genetic variant. The variant p.Ser657Asn in PLXNA4 proved to be the best candidate. Furthermore PLXNA4 was screened for additional variants in 862 PD cases and 940 controls. Here an excess of rare, non-synonymous variants in individuals with PD was shown (47 versus 30, p=0.018 chi-square test). This supports a possible role of rare variants in PLXNA4 as a risk factor for PD.     «

In this study exome sequencing was used in two affected individuals from a family with late-onset familial PD to identify a potentially causal genetic variant. The variant p.Ser657Asn in PLXNA4 proved to be the best candidate. Furthermore PLXNA4 was screened for additional variants in 862 PD cases and 940 controls. Here an excess of rare, non-synonymous variants in individuals with PD was shown (47 versus 30, p=0.018 chi-square test). This supports a possible role of rare variants in PLXNA4 as a...     »