Overview of included studies for DYT-PRKRA:
Filter for
carrying
Country
Study Study design N cases Ethnicities Sex
(% )
Mean AAO (+/- SD) Reported mutations
Dos Santos, 2018 Mutational screen 7 n.a. 57% 19(+/-16) p.Pro222Leu: hom
p.Ser265Arg
+ p.Pro222Leu: comp. het.
van Egmond, 2017 Other/Mixed 1 C n.a. 5 p.Glu186Asp: hom
Quadri, 2016 Family study 3 C 100% 5(+/-3) p.Pro222Leu: hom
de Carvalho Aguiar, 2015 Family study 2 C 0% 4 p.Cys213Phe
+ p.Cys77Ser: comp. het.
Lemmon, 2013 Case report/Case series 1 n.a. n.a. 1 p.Pro222Leu
+ p.Cys213Arg: comp. het.
Camargos, 2008 Other/Mixed 7 O 71% 9(+/-6) p.Pro222Leu: hom