Overview of included studies for PARK-Parkin:
Filter for
carrying
Country
Study Study design N cases Ethnicities Sex
(% )
Mean AAO (+/- SD) Reported mutations
González-Casacuberta, 2019 Other/Mixed 5 C 60% 29(+/-7) c.(7+1_8-1)_(534+1_535-1)del: hom
c.(534+1_535-1)_(734+1_735-1)del: hom
c.(7+1_8-1)_(171+1_172-1)dup: het
c.(618+1_619-1)_(734+1_735-1)del: n.a.
c.(171+1_172-1)_(412+1_413-1)del: hom
c.(871+1_872-1)_(933+1_934-1)del
Show more (+3) + c.(618+1_619-1)_(734+1_735-1)del: comp. het.
Fang, 2019 Case report/Case series 1 A 100% 26 c.(618+1_619-1)_(734+1_735-1)del
+ p.Gly284Arg: comp. het.
Trinh, 2019 Mutational screen 3 C 33% 20(+/-10) p.Arg275Trp
+ c.(7+1_8-1)_(534+1_535-1)del: comp. het.
c.(7+1_8-1)_(412+1_413-1)del
+ p.Gln34Argfs*5: comp. het.
c.(618+1_619-1)_(871+1_872-1)dup
+ p.Gln34Argfs*10: comp. het.
Fadda, 2019 Mutational screen 1 n.a. 100% 17 c.(534+1_535-1)_(618+1_619-1)del
+ c.(7+1_8-1)_(171+1_172-1)del: comp. het.
Bravo, 2018 Family study 2 C 0% 14(+/-5) c.172-41049_412+2829del
+ p.Val3Glufs*3: comp. het.
c.412+16037_734+54332delinsATCTGATAAAGTCAG
+ p.Ala138Glyfs*7: comp. het.
Jankovic, 2018 Mutational screen 5 C 60% 29(+/-11) c.(7+1_8-1)_(171+1_172-1)del: hom
c.(171+1_172-1)_(412+1_413-1)del: het
c.(412+1_413-1)_(734+1_735-1)del
+ c.(412+1_413-1)_(534+1_535-1)dup: comp. het.
p.Gln34Argfs*5
+ c.(171+1_172-1)_(412+1_413-1)dup: comp. het.
p.Arg275Trp: comp. het.
p.Cys253Tyr
Show more (+3) + p.Val56Glu: comp. het.
Diez-Fairen, 2018 Mutational screen 6 C 67% 31(+/-20) p.Asn52Metfs*29
+ p.Cys212Tyr: comp. het.
p.Trp445*: comp. het.
p.Arg275Trp: comp. het.
c.(171+1_172-1)_(534+1_535-1)del: comp. het.
p.Pro437Leu: comp. het.
c.(412+1_413-1)_(534+1_535-1)dup
Show more (+3) + p.Thr240Met: comp. het.
Shi, 2018 Family study 3 A 67% 25(+/-1) c.619-1G>C
+ c.(?_-103-1)_(171+1_172-1)del: comp. het.
Bentley, 2018 Mutational screen 5 n.a. 50% 45(+/-13) p.Gly430Asp: hom
c.(412+1_413-1)_(534+1_535-1)del: hom
p.Gln34Argfs*5: hom
Schormair, 2018 Mutational screen 1 C 100% 39 c.(171+1_172-1)_(534+1_535-1)del: hom