Overview of included studies for DYT/PARK-SPR:
Filter for
carrying
Country
Study Study design N cases Ethnicities Sex
(% )
Mean AAO (+/- SD) Reported mutations
Mainka, 2020 Case report/Case series 2 n.a. 100% n.a. p.Gly173*: hom
Unknown, 2019 Other/Mixed 2 B 0% 1(+/-0) p.Ala15Profs*100: hom
Nakagama, 2019 Case report/Case series 2 n.a. 0% n.a. p.Cys171Tyr
+ c.304+2_304+13del12: comp. het.
AlSubhi, 2017 Case report/Case series 10 n.a. 60% 1(+/-1) p.Ala176Val: hom
p.Met1?: hom
p.Trp124Arg: hom
Zielonka, 2015 Case report/Case series 2 n.a. 100% 0(+/-0) p.Arg177Pro: hom
Koht, 2014 Family study 2 A 0% 2(+/-1) p.Tyr123Cys: hom
Leuzzi, 2013 Case report/Case series 1 C 0% 0 p.Arg150Gly
+ p.Lys251*: comp. het.
Thibert, 2012 Case report/Case series 1 n.a. 0% 1 p.Ser136Phe
+ p.Arg150Gly: comp. het.
Dill, 2012 Case report/Case series 1 n.a. 0% 0 p.Arg219*: hom
Lohmann, 2012 Family study 2 n.a. 50% 2(+/-1) p.Thr151Glyfs*2: hom