Overview of included studies for PARK-ATP13A2:
Filter for
carrying
Country
Study Study design N cases Ethnicities Sex
(% )
Mean AAO (+/- SD) Reported mutations
Pietrzak, 2019 Case report/Case series 1 C 0% 1 p.Leu789Argfs*15
+ p.Gln737*: comp. het.
McNeil-Gauthier, 2019 Case report/Case series 1 n.a. 100% n.a. p.Arg709Thr: hom
Inzelberg, 2018 Other/Mixed 2 JA 50% 22(+/-8) p.Tyr1020Thrfs*3
+ p. Val73Glyfs*26: comp. het.
Abbas, 2017 Case report/Case series 1 n.a. 100% 21 p.Pro842Leu: hom
Bouhouche, 2017 Other/Mixed 2 n.a. 50% 13(+/-1) p.Trp258*: hom
van de Warrenburg, 2016 Other/Mixed 1 n.a. 100% 0 p.Gly892Asp: hom
Martino, 2015 Other/Mixed 1 n.a. 100% 14 p.Ser941Thrfs*2: hom
Malakouti-Nejad, 2014 Other/Mixed 3 n.a. 67% 18(+/-11) p.Gln858*: hom
Bras, 2012 Family study 3 n.a. 33% 14(+/-2) p.Met854Arg: hom
Eiberg, 2012 Family study 5 AM 40% 18(+/-8) p.Leu825Asnfs*33: hom