Overview of included studies for DYT/PARK-SPR:
Filter for
carrying
Country
Study Study design N cases Ethnicities Sex
(% )
Mean AAO (+/- SD) Reported mutations
Unknown, 2019 Other/Mixed 1 B 0% 1 p.Ala15Profs*100: hom
Nakagama, 2019 Case report/Case series 1 n.a. 0% n.a. c.304+2_304+13del12: het
p.Cys171Tyr: het
AlSubhi, 2017 Case report/Case series 5 n.a. 60% 1(+/-1) p.Ala176Val: hom
p.Met1?: hom
p.Trp124Arg: hom
Zielonka, 2015 Case report/Case series 1 n.a. 100% 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: het
p.Lys251*: het
Thibert, 2012 Case report/Case series 1 n.a. 0% 1 p.Arg150Gly: het
p.Ser136Phe: 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
Bainbridge, 2011 Family study 2 n.a. 50% 1(+/-0) p.Arg150Gly: het
p.Lys251*: het