Overview of included studies for PARK-ATP13A2:
Filter for
carrying
Study Study design Age restriction N cases Ethnicities Sex
(% )
Mean AAO (+/- SD) Reported mutations
Inzelberg, 2018 Other/Mixed none 2 JA 50% 22(+/-8) p. Val73Glyfs*26
+ p.Tyr1020Thrfs*3: comp. het.
Bouhouche, 2017 Other/Mixed none 2 n.g. 50% 13(+/-1) p.Trp258*: hom
van de Warrenburg, 2016 Other/Mixed none 1 n.g. 100% 0 p.Gly892Asp: hom
Martino, 2015 Other/Mixed none 1 n.g. 100% 14 p.Ser941Thrfs*2: hom
Malakouti-Nejad, 2014 Other/Mixed none 3 n.g. 67% 18(+/-11) p.Gln858*: hom
Bras, 2012 Family study none 3 n.g. 33% 14(+/-2) p.Met854Arg: hom
Eiberg, 2012 Family study none 5 AM 40% 18(+/-8) p.Leu825Asnfs*33: hom
Park, 2011 Other/Mixed none 2 A 50% 17(+/-0) p.Leu1059Arg
+ p.Leu1085Trpfs*4: comp. het.
Crosiers, 2011 Family study none 1 n.g. 100% n.g. p.Phe851Cysfs*6: hom
Paisán-Ruiz, 2010 Family study none 2 n.g. 50% 17(+/-1) p.Thr368Argfs*29: hom