Overview of included studies for DYT/PARK-SPR:
Filter for
carrying
Country
Study Study design N cases Ethnicities Sex
(% )
Mean AAO (+/- SD) Reported mutations
Bainbridge, 2011 Family study 2 n.a. 50% 1(+/-0) p.Arg150Gly
+ p.Lys251*: comp. het.
Arrabal, 2011 Case report/Case series 4 n.a. 25% 7 p. Lys251*: hom
p.Gly102Cys
+ p.Arg150Gly: comp. het.
Leu-Semenescu, 2010 Case report/Case series 1 C 100% 0 p.Arg150Gly: hom
Wali, 2010 Sib pair study 2 n.a. 50% 0(+/-0) p.Val138Asp: hom
Clot, 2009 Mutational screen 1 n.a. 0% 6 c.596-2A>G: hom
Kusmierska, 2009 Case report/Case series 1 C 0% 0 p.Asn127Lys: hom
Verbeek, 2008 Sib pair study 1 C 100% 1 p.Lys251*: hom