Overview of included studies for PARK-ATP13A2:
Filter for
carrying
Study Study design Age restriction N cases Ethnicities Sex
(% )
Mean AAO (+/- SD) Reported mutations
Bouhouche, 2017Other / Mixednone2n.g.n.g.13 (+/-1)p.Trp258*: hom
van de Warrenburg, 2016Other / Mixednone1n.g.n.g.0p.Gly892Asp: hom
Martino, 2015Other / Mixednone1n.g.n.g.14p.Ser941Thrfs*2: hom
Malakouti-Nejad, 2014Other / Mixednone3n.g.n.g.18 (+/-11)p.Gln858*: hom
Bras, 2012Family studynone3n.g.n.g.14 (+/-2)p.Met854Arg: hom
Eiberg, 2012Family studynone5AMn.g.18 (+/-8)p.Leu825Asnfs*33: hom
Park, 2011Other / Mixednone2An.g.17 (+/-0)p.Leu1059Arg + p.Leu1085Trpfs*4: comp. het.
Crosiers, 2011Family studynone1n.g.n.g.n.g.p.Phe851Cysfs*6: hom
Paisán-Ruiz, 2010Family studynone2n.g.n.g.17 (+/-1)p.Thr368Argfs*29: hom
Ning, 2008Other / Mixednone1n.g.n.g.22p.Phe182Leu: hom