Overview of included studies for DYT/PARK-PLA2G6:
Filter for
carrying
Country
Study Study design N cases Ethnicities Sex
(% )
Mean AAO (+/- SD) Reported mutations
Darling, 2019 Case report/Case series 16 n.a. n.a. n.a. p.Arg635*
+ p.Phe542Leu: comp. het.
p.Gly517Argfs*29: hom
p.Tyr790*
+ p.Arg741Trp: comp. het.
p.Gln673*: hom
p.Ala227Val: hom
p.Arg635*: hom
p.Tyr790*: hom
p.Arg741Trp: hom
p.Glu547Gly: hom
p.His479Asp: comp. het.
p.Leu337Gln
Show more (+8) + p.Ala343Thr: comp. het.
Kamel, 2019 Case report/Case series 1 n.a. 0% n.a. p.Asp739His: hom
Huang, 2018 Case report/Case series 1 n.a. 100% 31 p.Ser359Ser
+ p.Asp331Tyr: comp. het.
Chen, 2018 Case report/Case series 4 A 75% 28(+/-3) p.Ser504Leu
+ p.Gly373Arg: comp. het.
p.Pro223Leu
+ p.Ala639Thr: comp. het.
p.Thr661Met
+ p.Asp331Tyr: comp. het.
p.Gly740Arg: comp. het.
Show more (+1)
Dastsooz, 2017 Case report/Case series 1 n.a. 100% 2 p.Met1Ile: hom
Wirth, 2017 Case report/Case series 2 C 100% 25(+/-3) p.Ser774Ile
+ p.Arg37*: comp. het.
p.Gly253Val
+ p.Ala781Thr: comp. het.
Ozes, 2017 Other/Mixed 4 n.a. 100% 10(+/-7) p.Arg747Trp: hom
p.Leu596Phe: hom
p.Ser589Thrfs*76
+ p.Ala633Val: comp. het.
Tello, 2017 Sib pair study 2 n.a. 0% n.a. p.Ala227Val: hom
Michelis, 2017 Case report/Case series 1 n.a. 100% 34 p.Met534Ile
+ p.Arg635*: comp. het.
Mascalchi, 2017 Sib pair study 2 n.a. 50% n.a. p.Arg635*
+ c.(609+1_610-1)_(1186+1_1187-1)dup: comp. het.