Overview of included studies for DYT/PARK-QDPR:
Filter for
carrying
Country
Study Study design N cases Ethnicities Sex
(% )
Mean AAO (+/- SD) Reported mutations
Zouvelou, 2019 Other/Mixed 1 n.a. n.a. n.a. p.Ala156Thr
+ p.Pro204Thrfs*7: comp. het.
Gowda, 2018 Case report/Case series 1 n.a. 0% n.a. p.Ser163lle: hom
Takahashi, 2017 Case report/Case series 1 n.a. 100% n.a. p.Gly18Cys
+ p.Ser59*: comp. het.
Ventzke, 2015 Family study 2 n.a. 50% 0(+/-0) p.Ser118Phe: hom
Lu, 2014 Case report/Case series 2 A 50% 1(+/-1) p.Pro172Leu
+ p.Arg221*: comp. het.
p.Ala175Arg
+ p.Gly170Ser: comp. het.
Porta, 2012 Case report/Case series 2 n.a. n.a. 0(+/-0) p.Leu14Pro: hom
p.Gly23Asp
+ p.Tyr150Cys: comp. het.
Karam, 2011 Case report/Case series 1 n.a. 0% 1 p.Trp215Arg: hom
Sedel, 2006 Case report/Case series 1 n.a. 100% 9 p.Trp108Gly: hom