Overview of included studies for PARK-SYNJ1:
Filter for
carrying
Study Study design Age restriction N cases Ethnicities Sex
(% )
Mean AAO (+/- SD) Reported mutations
Taghavi, 2017 Mutational screen none 1 O 100% 24 p.Arg839Cys: hom
Rauschendorf, 2017 Family study none 2 C 100% 14(+/-1) p.Trp171*
+ p.Arg258Gln: comp. het.
Kirola, 2016 Family study none 2 I 50% 15(+/-4) p.Arg459Pro: hom
Olgiati, 2014 Family study none 2 C 50% 22(+/-8) p.Arg258Gln: hom
Quadri, 2013 Other/Mixed none 2 C 50% 25(+/-4) p.Arg258Gln: hom
Krebs, 2013 Family study none 2 O 50% 21(+/-1) p.Arg258Gln: hom