Overview of included studies for DYT/PARK-PTS:
Filter for
carrying
Country
Study Study design N cases Ethnicities Sex
(% )
Mean AAO (+/- SD) Reported mutations
Chen, 2020 Case report/Case series 2 n.a. 50% 7(+/-6) p.Val56Met
+ p.Asp96Asn: comp. het.
p.Lys91Arg: comp. het.
Almannai, 2019 Other/Mixed 9 B 22% 0(+/-0) p.Val57del: hom
p.Ile114Met: hom
p.Asn52Ser: hom
p.Pro123Ser: hom
p.Thr67Met: hom
p.Met80Val: hom
Show more (+3)
Fernández-Lainez, 2018 Case report/Case series 5 H n.a. 0(+/-0) p.Arg25*
+ p.Ala111Ser: comp. het.
p.Ala111Ser: hom
p.Val132Tyrfs*19: hom
Chaiyasap, 2017 Mutational screen 1 A 100% n.a. p.Thr67Met
+ p.Asn52Ser: comp. het.
Stojiljkovic, 2015 Case report/Case series 1 C 100% 3 p.Asp136Val: hom
Unknown, 2011 Other/Mixed 10 n.a. n.a. n.a. p.Arg25Gly
+ p.Pro87Ser: comp. het.
p.Val56Met
+ p.Thr106Met: comp. het.
p.Asp96Asn: comp. het.
p.Asn52Ser: hom
p.Asn52Ser: comp. het.
Show more (+2)
Leuzzi, 2010 Case report/Case series 10 n.a. 70% 0(+/-0) p.Asn47Asp
+ p.Ile18Thr: comp. het.
c.187-37insG: hom
p.Thr67Met
+ p.Lys129Glu: comp. het.
p.Ser28Lysfs*2
+ c.84-3C>G: comp. het.
p.Pro87Leu: hom
p.Pro87Leu
+ p.Arg9Cys: comp. het.
p.Thr106Met
+ p.Val132Tyrfs*19: comp. het.
p.Asn52Ser: hom
Show more (+5)
Vatanavicharn, 2009 Case report/Case series 1 A 0% 0 p.His49Gln
+ p.Pro87Ser: comp. het.
Porta, 2009 Case report/Case series 3 n.a. 100% 0(+/-0) p.Pro87Leu: hom
p.Asn52Ser: hom
Jäggi, 2008 Other/Mixed 3 n.a. 67% 0(+/-0) p.Thr67Met
+ p.Asp136Val: comp. het.
p.Glu35Gly: comp. het.
p.Thr67Met: hom
Wang, 2006 Other/Mixed 2 A n.a. 0(+/-0) p.Thr106Met
+ p.Met1?: comp. het.
p.Leu127Phe
+ p.Asn52Ser: comp. het.
Lee, 2006 Case report/Case series 10 A 70% n.a. p.Arg25Gly
+ p.Pro87Ser: comp. het.
p.Asp96Asn: comp. het.
p.Asn52Ser: hom
p.Asn52Ser: comp. het.
p.Val56Met: comp. het.
p.Thr106Met: comp. het.
Show more (+3)
Dudesek, 2001 Case report/Case series 4 n.a. 25% 1(+/-1) p.Asp136Val: hom
p.Ser15_Arg16insGly
+ p.Asp136Gly: comp. het.
p.Pro87Leu
+ p.Thr67Met: comp. het.
Oppliger, 1997 Case report/Case series 2 n.a. 100% 0(+/-0) p.Thr67Met
+ p.Asp136Val: comp. het.
p.Lys29_Ser32del
+ p.Val57del: comp. het.
Hanihara, 1997 Case report/Case series 1 n.a. 0% 2 p.Ile114Val: hom