Overview of included studies for PARK-PINK1:
Filter for
carrying
Country
Study Study design N cases Ethnicities Sex
(% )
Mean AAO (+/- SD) Reported mutations
Zadikoff, 2006 Case report/Case series 1 n.a. 100% 37 p.Gln456*: hom
Tan, 2006 Mutational screen 2 n.a. 50% 38(+/-19) p.Arg246*: hom
p.Tyr258*: hom
Ibáñez, 2006 Other/Mixed 12 n.a. 50% 35(+/-8) p.Gln456*: hom
p.Gln456*
+ p.Cys125Gly: comp. het.
p.Glu240Lys: hom
p.Leu369Pro
+ p.Arg492*: comp. het.
p.Gly386Ala: hom
p.Gly409Val: hom
p.Lys520Argfs*3: hom
p.Cys549Trpfs*5
Show more (+5) + p.Lys24Glyfs*31: comp. het.
Bonifati, 2005 Mutational screen 3 n.a. 33% 32(+/-3) p.Ala168Pro: hom
p.Trp437*: hom
p.Gln456*: hom
Klein, 2005 Mutational screen 2 n.a. 50% 41(+/-12) p.Arg279His
+ p.Ser284=: comp. het.
p.Gln534_Ser535insGln: hom
Albanese, 2005 Case report/Case series 1 n.a. 100% 39 p.Ala168Pro: hom
Li, 2005 Family study 3 n.a. 33% 40(+/-3) p.Cys388Arg: hom
c.1123+1247_*881del: hom
Rogaeva, 2004 Mutational screen 2 n.a. n.a. 30 p.Glu240Lys
+ p.Leu489Pro: comp. het.
p.Leu347Pro: hom
Rohé, 2004 Family study 1 n.a. 0% 28 p.Asp525Valfs*38: hom
Hatano, 2004 Family study 10 n.a. 30% 27(+/-5) p.Arg246*: hom
p.Gln239*
+ p.Arg492*: comp. het.
p.His271Gln: hom
p.Leu347Pro: hom
p.Glu417Gly: hom
Show more (+2)