Overview of included studies for DYT/PARK-TH:
Filter for
carrying
Country
Study Study design N cases Ethnicities Sex
(% )
Mean AAO (+/- SD) Reported mutations
Feng, 2018 Case report/Case series 1 A 100% 0 p.Arg233His
+ p.Arg153X: comp. het.
Ma, 2018 Mutational screen 1 A 0% 25 p.Pro249Leu: hom
Yang, 2018 Case report/Case series 2 A 0% 1 p.Arg153X
+ p.Gly247Ser: comp. het.
p.Arg233His: hom
Kuwabara, 2018 Case report/Case series 1 A 0% 0 p.Arg233His
+ c.1141-1G>A: comp. het.
Katus, 2017 Case report/Case series 1 A 100% n.a. p.Thr494Met: hom
Goswami, 2017 Sib pair study 2 I 100% 1(+/-0) p.Gly428Arg
+ p.Arg233His: comp. het.
Zhang, 2017 Case report/Case series 4 A 25% 1 p.Arg233His
+ p.Arg476Ser: comp. het.
p.Gly315Ser
+ c.738-34G>C: comp. het.
p.Arg328Gln
+ p.Gly247Ser: comp. het.
p.Arg153X: comp. het.
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Yan, 2017 Case report/Case series 1 A 0% 15 p.Arg441Trp
+ p.His361Gln: comp. het.
Sun, 2014 Family study 2 A 50% 3(+/-0) p.Arg484His
+ p.Ala335Val: comp. het.
Al-Muslamani, 2014 Case report/Case series 1 n.a. 100% 1 p.Arg313Leu: hom