Overview of included studies for PARK-PINK1:
Filter for
carrying
Country
Study Study design N cases Ethnicities Sex
(% )
Mean AAO (+/- SD) Reported mutations
Savettieri, 2008 Family study 2 n.a. 100% 29(+/-1) p.Asp297Metfs*22: hom
Gelmetti, 2008 Case report/Case series 1 n.a. 0% 67 p.Val317Ile
+ p.Ala244Gly: comp. het.
Prestel, 2008 Family study 2 n.a. 0% 38(+/-3) p.Gln126Pro: hom
Weng, 2007 Mutational screen 2 A 0% 19(+/-1) p.Arg492*
+ p.Gln239*: comp. het.
p.Arg492*: hom
Marongiu, 2007 Family study 1 n.a. 0% 38 c.(?_-94)_(*820_?)del
+ c.1252-2_1272del: comp. het.
Doostzadeh, 2007 Mutational screen 1 n.a. 0% 30 p.Leu347Pro: hom
Chishti, 2006 Other/Mixed 2 B n.a. 32(+/-3) p.Thr313Met: hom
Leutenegger, 2006 Family study 5 B 40% 13(+/-2) p.Ala217Asp: hom
Hedrich, 2006 Family study 4 C 25% 50(+/-9) p.Gln456*: hom
Criscuolo, 2006 Other/Mixed 1 n.a. 0% 22 p.Trp437*: hom