Overview of included studies for DYT/PARK-GLB1:
Filter for
carrying
Country
Study Study design N cases Ethnicities Sex
(% )
Mean AAO (+/- SD) Reported mutations
Deodato, 2017 Case report/Case series 3 C 0% 9(+/-10) c.1068+1G>T
+ p.Arg201His: comp. het.
p.Ile51Asn: comp. het.
p.Thr329Ala
+ p.Arg442Gln: comp. het.
Kannebley, 2015 Case report/Case series 8 n.a. 50% 17 p.Thr500Ala
+ p.Thr384Ser: comp. het.
p.Arg49His: comp. het.
p.Arg201His: comp. het.
p.Gly311Arg: comp. het.
p.Leu173Pro
+ p.Phe107Leu: comp. het.
p.Ile354Ser: comp. het.
Show more (+3)
Takenouchi, 2015 Case report/Case series 2 n.a. 100% 12 p.Arg201Cys
+ p.Tyr174His: comp. het.
Vieira, 2013 Case report/Case series 1 n.a. 100% 4 p.Gly438Glu: hom
Pierson, 2012 Case report/Case series 1 n.a. 0% 3 p.Gly262Val
+ p.Arg201His: comp. het.
Caciotti, 2011 Case report/Case series 4 C 0% 3(+/-1) p.Arg351*
+ p.Arg109Trp
+ p.Ser191Asn: comp. het.
p.Arg201His
+ p.Ile51Asn: comp. het.
p.Gly438Glu: hom
p.Trp92*
Show more (+1) + p.Arg442Gln: comp. het.
Caciotti, 2005 Case report/Case series 1 n.a. n.a. n.a. p.Arg442Gln
+ p.Thr329Ala: comp. het.
Roze, 2005 Case report/Case series 4 n.a. 25% 7(+/-6) p.Arg148Cys
+ p.Lys73Glu: comp. het.
p.Gly438Glu: hom
p.Arg49His
+ p.Trp527Leufs*5: comp. het.
Hirayama, 1997 Case report/Case series 1 n.a. 100% 28 p.Ile51Thr: hom
Tanaka, 1995 Case report/Case series 1 A 0% 2 p.Ile51Thr: hom