Overview of included studies for DYT/PARK-TH:
Filter for
carrying
Country
Study Study design N cases Ethnicities Sex
(% ♂) 		Mean AAO (+/- SD) Reported mutations
Møller, 2005 Case report/Case series 1 C 0% 0 p.Arg328Trp
+ p.Thr399Met: comp. het.
Diepold, 2005 Case report/Case series 1 n.a. 0% 1 p.Asp498Gly
+ p.His246Tyr: comp. het.
Schiller, 2004 Sib pair study 2 n.a. 100% 3(+/-0) p.Ala376Val
+ p.Asp498Gly: comp. het.
Hoffmann, 2003 Case report/Case series 1 n.a. n.a. 0 p.Leu236Pro: hom
Grattan-Smith, 2002 Case report/Case series 1 n.a. 0% 0 p.Arg233His: hom
Furukawa, 2001 Case report/Case series 1 C 100% 1 p.Asp498Gly
+ p.Leu99Argfs*15: comp. het.
Janssen, 2000 Case report/Case series 2 C 50% 0(+/-0) c.1198-24T>A
+ p.Arg233His: comp. het.
Swaans, 2000 Case report/Case series 3 n.a. 100% 3(+/-2) p.Thr494Met
+ p.Arg337His: comp. het.
p.Thr276Pro
+ p.Thr314Met: comp. het.
DE Lonlay, 2000 Case report/Case series 1 C 100% 0 p.Phe309Ser: hom
Bräutigam, 1999 Case report/Case series 1 C 100% 0 p.Cys359Phe: hom
© University of Lübeck. Last updated on Dec. 2, 2020. Version: 3.5.95