Overview of included studies for DYT/PARK-SLC6A3:
Filter for
carrying
Study Study design Age restriction N cases Ethnicities Sex
(% )
Mean AAO (+/- SD) Reported mutations
Yildiz, 2017 Case report/Case series none 2 n.g. 100% n.g. c.418+3800_653+3058del: hom
p.Gly386Arg: hom
Zemojtel, 2014 Mutational screen none 1 n.g. 0% n.g. p.His547Phefs*56
+ p.Gly433Arg: comp. het.
Hansen, 2014 Mutational screen none 1 O 100% n.g. p.Ile312Phe
+ p.Asp421Asn: comp. het.
Ng, 2014 Other/Mixed none 6 n.g. 83% n.g. p.Ala314Val: hom
p.Gly386Arg
+ c.287-5_287-2delCACAinsAAC: comp. het.
p.Tyr470Ser: hom
p.Arg445Cys: n.g.
p.Arg85Leu: het
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Puffenberger, 2012 Other/Mixed none 2 C 0% n.g. c.1269+1G>T: hom
Kurian, 2011 Case report/Case series none 6 n.g. 17% n.g. p.Gly500Glufs*13: hom
p.Gly327Arg
+ p.Gln439*
+ p.Pro529Leu: 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 none 3 n.g. 33% n.g. p.Leu368Gln: hom
p.Pro395Leu: hom