Overview of included studies for DYT/PARK-TH:
Filter for
carrying
Country
Study Study design N cases Ethnicities Sex
(% )
Mean AAO (+/- SD) Reported mutations
Bijarnia-Mahay, 2020 Case report/Case series 1 n.a. 0% 0 c.-2188_103-194del
+ p.Thr399Met: comp. het.
Chen, 2020 Case report/Case series 22 A 64% 0(+/-0) p.Arg129*
+ p.Arg233His: comp. het.
p.Arg245Met
+ p.Arg153*: comp. het.
p.Gly247Ser
+ p.Ser349Pro: comp. het.
p.Arg233His: hom
c.1070+1G>T: comp. het.
p.Gly315Ser: comp. het.
c.1071-1_1112delGCCAGCATGGGCACGTGCCCCAGCAGCTCGTGGCAGCAGTCCC
+ p.Thr256Ile: comp. het.
c.-71C>T: comp. het.
p.Asp491His: comp. het.
p.His347Tyr
+ c.738-2A>G: comp. het.
p.Thr494Met: comp. het.
p.Gly414Arg
+ p.His361Gln: comp. het.
p.Gln232*: comp. het.
p.Pro223Leu: comp. het.
c.737+8_737+9delGCinsTT: comp. het.
Show more (+12)
Bally, 2020 Case report/Case series 1 n.a. 100% 38 p.Leu99Argfs*15
+ p.Ser390Leu: comp. het.
Hou, 2019 Case report/Case series 3 A 67% 0(+/-0) p.Arg233His
+ p.Arg484Leu: comp. het.
c.581-1G>A: comp. het.
p.Glu258Gln
+ p.Arg129*: comp. het.
Couto, 2019 Case report/Case series 1 n.a. 0% 3 p.Leu273Phe: hom
Feng, 2018 Case report/Case series 1 A 100% 0 p.Arg153*
+ p.Arg233His: comp. het.
Ma, 2018 Mutational screen 1 A 0% 25 p.Pro249Leu: hom
Yang, 2018 Case report/Case series 2 A 0% 1 p.Gly247Ser
+ p.Arg153*: comp. het.
p.Arg233His: hom
Kuwabara, 2018 Case report/Case series 1 A 0% 0 c.1141-1G>A
+ p.Arg233His: comp. het.
Katus, 2017 Case report/Case series 1 A 100% n.a. p.Thr494Met: hom