Fig. 1

a Genetic pedigree of the family, with EOPD status indicated by shaded diamonds. Arrow indicates index case. b Chromatographs from sequencing with the c.650 position of PINK1 exon 2 highlighted. Traces for affected family members MF_1 (index case) and MF_3 show homozygous C > A transversions, while that of the ‘carrier’ MF_2 shows a heterozygous transversion. c Multiple alignments of the PINK1 protein in clustal format. Box indicates highly conserved ATPase orientation site. Shading indicates the position of the p.A217D mutation