Overview of included studies for PARK-PINK1:
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carrying
Country
Study Study design N cases Ethnicities Sex
(% )
Mean AAO (+/- SD) Reported mutations
Scornaienchi, 2012 Mutational screen 3 n.a. 67% 41(+/-13) p.Gln126Pro: hom
p.Trp437*: hom
p.Gln456*: hom
Samaranch, 2010 Family study 6 n.a. 50% 30(+/-10) p.Leu485_Arg497del: hom
p.Glu417_Arg497del
+ p.Leu485_Arg497del: comp. het.
Keyser, 2010 Mutational screen 3 I 0% 43(+/-5) p.Tyr258*: hom
Cazeneuve, 2009 Family study 3 n.a. 67% 16(+/-5) deletions of PINK1 exons 4-8 + 88bp insertion in DDOST intron 2: hom
Camargos, 2009 Mutational screen 1 n.a. 0% 24 c.(1251+1_1252-1)_(1488+1_1489-1)del: hom
Myhre, 2008 Family study 4 n.a. 25% 30(+/-7) p.Pro416Arg: hom
p.Ser419Pro: hom
Guo, 2008 Other/Mixed 4 A n.a. 26(+/-10) p.Thr313Met: hom
p.Arg492*: hom
Choi, 2008 Mutational screen 1 A n.a. n.a. p.Asn367Ser
+ p.Asn521Ilefs*2: comp. het.
Kumazawa, 2008 Mutational screen 5 n.a. 20% 34(+/-20) p.Thr313Met: hom
p.Cys388Arg: hom
p.Trp437Arg: hom
p.Asp297Metfs*22: hom
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Moro, 2008 Mutational screen 1 n.a. 0% 31 p.Val170Gly: hom