Overview of included studies for PARK-DJ1:
Filter for
carrying
Country
Study Study design N cases Ethnicities Sex
(% )
Mean AAO (+/- SD) Reported mutations
Stephenson, 2019 Family study 2 JA 100% 29(+/-1) c.90+1dupG: hom
Taghavi, 2017 Other/Mixed 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
Bras, 2014 Case report/Case series 1 n.a. 100% 15 c.317_322+5delGTGCAGGTGAC: 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.252+8dupA
+ c.-24+66C>G: comp. het.
Guo, 2008 Other/Mixed 2 A n.a. 19(+/-1) p.Leu10Pro: hom
Annesi, 2005 Family study 2 n.a. 100% 24 p.Glu163Lys: hom
Hering, 2004 Other/Mixed 1 n.a. 100% 34 p.Glu64Asp: hom
Abou-Sleiman, 2003 Mutational screen 1 JA n.a. 39 p.Met26Ile: hom
Hague, 2003 Mutational screen 1 H 0% n.a. p.Thr19Lysfs*5
+ c.410-1G>C: comp. het.
Bonifati, 2003 Family study 7 n.a. n.a. 31(+/-5) p.Leu166Pro: hom
c.-4069_322+1852del: hom