Please log on to access all functions of the MDSGene database.

Overview of included studies for DYT/PARK-TH:
Filter for
carrying
Country
Study Study design N cases Ethnicities Sex
(% )
Mean AAO (+/- SD) Reported mutations
Ma, 2018 Mutational screen 1 A 0% 25 p.Pro249Leu: hom
Yan, 2017 Case report/Case series 1 A 0% 15 p.His361Gln
+ p.Arg441Trp: comp. het.
Sun, 2014 Family study 2 A 50% 3(+/-0) p.Ala335Val
+ p.Arg484His: comp. het.
Al-Muslamani, 2014 Case report/Case series 1 n.a. 100% 1 p.Arg313Leu: hom
Pons, 2013 Case report/Case series 5 n.a. 0% 0(+/-0) p.Leu236Pro: hom
Chi, 2012 Case report/Case series 6 A 50% 0(+/-0) p.Ile382Thr
+ p.Arg233His: comp. het.
p.Arg153X: comp. het.
p.Gln232X: comp. het.
p.Arg233His: hom
p.Arg153X: hom
p.Gly315Ser: comp. het.
Show more (+3)
Giovanniello, 2012 Case report/Case series 1 C 100% 0 p.Arg296Gln
+ p.Pro251Leu
+ p.Cys279Phe: comp. het.
Yeung, 2011 Case report/Case series 10 A 40% 2(+/-3) p.Arg233His
+ p.Gln232X: comp. het.
p.Gly294Arg
+ c.1197+5G>C: comp. het.
p.Gly247Ser
+ p.Gly408Arg: comp. het.
p.Arg153X: comp. het.
p.Gly315Ser
+ p.Ala385Val: comp. het.
p.Ile394Thr: comp. het.
p.Arg233His: hom
Show more (+4)
Zafeiriou, 2009 Case report/Case series 1 C 100% 0 p.Leu236Pro: hom
Wu, 2008 Family study 1 A 0% 3 p.Arg233His
+ p.Gly247Ser: comp. het.