Overview of included studies for DYT/PARK-SLC6A3:
Filter for
carrying
Country
Study Study design N cases Ethnicities Sex
(% )
Mean AAO (+/- SD) Reported mutations
Yildiz, 2017 Case report/Case series 2 n.a. 100% n.a. c.418+3800_653+3058del: hom
p.Gly386Arg: hom
Zemojtel, 2014 Mutational screen 1 n.a. 0% n.a. p.Gly433Arg
+ p.His547Phefs*56: comp. het.
Hansen, 2014 Mutational screen 1 O 100% n.a. p.Asp421Asn
+ p.Ile312Phe: comp. het.
Ng, 2014 Other/Mixed 6 n.a. 83% n.a. p.Ala314Val: hom
c.287-5_287-2delCACAinsAAC
+ p.Gly386Arg: comp. het.
p.Tyr470Ser: hom
p.Arg445Cys: n.a.
p.Arg85Leu: het
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Puffenberger, 2012 Other/Mixed 2 C 0% n.a. c.1269+1G>T: hom
Kurian, 2011 Case report/Case series 6 n.a. 17% n.a. p.Gly500Glufs*13: hom
p.Gln439*
+ p.Pro529Leu
+ p.Gly327Arg: comp. het.
p.Leu224Pro: hom
p.Arg521Trp: hom
c.1156+5delG: hom
c.1031+1G>A: hom
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Kurian, 2009 Family study 3 n.a. 33% n.a. p.Leu368Gln: hom
p.Pro395Leu: hom