Overview of included studies for PARK-DJ1:
Filter for
carrying
Country
Study Study design N cases Ethnicities Sex
(% )
Mean AAO (+/- SD) Reported mutations
Taghavi, 2017 Mutational screen 2 n.a. 100% 27(+/-0) p.Asp24Metfs*3: hom
Di Nottia, 2017 Case report/Case series 1 C 0% 35 p.Thr154Lys: hom
Abbas, 2016 Mutational screen 1 n.a. 100% 22 p.Ile105Phe: hom
Erer, 2016 Mutational screen 1 n.a. 100% 23 c.322+4A>C: hom
Taipa, 2016 Case report/Case series 1 n.a. 100% 22 p.Leu172Gln: hom
Hanagasi, 2016 Family study 3 n.a. 33% 27(+/-7) p.Gln45*: hom
Darvish, 2013 Mutational screen 3 O n.a. n.a. c.(252+1_253-1)_(322+1_323-1)del: hom
Ghazavi, 2011 Mutational screen 2 n.a. 100% 20(+/-4) c.91-2A>G: hom
p.Ala107Pro: hom
Macedo, 2009 Mutational screen 1 n.a. 100% 34 p.Pro158del: hom
Tarantino, 2009 Other/Mixed 1 n.a. 100% 38 c.-24+66C>G
+ c.252+8dupA: comp. het.