Overview of included studies for PARK-PINK1:
Filter for
carrying
Country
Study Study design N cases Ethnicities Sex
(% )
Mean AAO (+/- SD) Reported mutations
Tan, 2019 Mutational screen 2 O n.a. 40(+/-7) c.(?_-94)_(387+1_388-1)del
+ p.Trp90*: comp. het.
c.(959+1_960-1)_(1123+1_1124-1)del: hom
Wang, 2018 Family study 1 A 100% 28 p.Lys520Argfs*3: hom
Russ, 2018 Other/Mixed 1 n.a. 100% 36 p.Gln456*: hom
Schormair, 2018 Mutational screen 1 C 0% 20 p.Arg492*: hom
Gustavsson, 2017 Mutational screen 4 C 0% 41(+/-8) p.His360Arg
+ c.(776+1_777-1)_(1123+1_1124-1)del: comp. het.
c.(776+1_777-1)_(1123+1_1124-1)del: hom
p.Leu77Pro: hom
c.(776+1_777-1)_(1123+1_1124-1)del: het
p.Ser73Leu
Show more (+2) + p.Arg152Trp
+ c.(776+1_777-1)_(959+1_960-1)dup: comp. het.
Bouhouche, 2017 Other/Mixed 2 D 100% 48(+/-8) p.Gln456*: hom
p.Leu539Phe: hom
Zech, 2017 Mutational screen 1 C 0% 24 p.Ala339Thr
+ p.Leu249Val: comp. het.
Norman, 2017 Family study 1 D n.a. 29 p.Ala217Asp: hom
Taghavi, 2017 Other/Mixed 6 n.a. 33% 28(+/-9) p.Arg246*: hom
Spataro, 2017 Mutational screen 1 C 0% 40 p.Trp90*: hom
Ben El Haj, 2016 Family study 1 n.a. 100% 54 p.Leu539Phe: hom
Halder, 2015 Mutational screen 1 n.a. 100% 31 p.Gln267*: hom
Al-Mubarak, 2015 Mutational screen 3 n.a. 67% 50(+/-17) p.Thr313Met: hom
p.Gly409Arg: hom
Steele, 2015 Mutational screen 3 O 33% 50(+/-17) p.Leu347Pro: hom
Siuda, 2014 Family study 2 C 50% 22(+/-8) p.Gln456*: hom
Monroy-Jaramillo, 2014 Mutational screen 9 O 67% 30(+/-8) c.(?_-94)_(387+1_388-1)del: hom
c.(776+1_777-1)_(1123+1_1124-1)del
+ c.(387+1_388-1)_(675+1_676-1)del: comp. het.
c.(387+1_388-1)_(675+1_676-1)dup
+ c.(959+1_960-1)_(1123+1_1124-1)dup: comp. het.
p.Tyr444Metfs*39: hom
p.Cys92Alafs*15: hom
Show more (+2)
Koziorowski, 2013 Mutational screen 1 C 0% n.a. p.Ile368Asn: hom
Darvish, 2013 Mutational screen 7 O n.a. 25 c.(387+1_388-1)_(675+1_676-1)del
+ c.(387+1_388-1)_(959+1_960-1)del: comp. het.
c.(776+1_777-1)_(959+1_960-1)del: hom
c.(959+1_960-1)_(1123+1_1124-1)del: hom
Kilarski, 2012 Mutational screen 1 A 0% 29 p.Leu347Pro: hom
Lohmann, 2012 Other/Mixed 3 n.a. 100% 40(+/-10) p.Leu31*: hom
p.Pro416Leu: hom
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.Asn521Ilefs*2
+ p.Asn367Ser: 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
Show more (+1)
Moro, 2008 Mutational screen 1 n.a. 0% 31 p.Val170Gly: hom
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.Ala244Gly
+ p.Val317Ile: 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.1252-2_1272del
+ c.(?_-94)_(*820_?)del: 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
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.Arg492*
+ p.Leu369Pro: comp. het.
p.Gly386Ala: hom
p.Gly409Val: hom
p.Lys520Argfs*3: hom
p.Lys24Glyfs*31
Show more (+5) + p.Cys549Trpfs*5: 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.Ser284=
+ p.Arg279His: 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.Arg492*
+ p.Gln239*: comp. het.
p.His271Gln: hom
p.Leu347Pro: hom
p.Glu417Gly: hom
Show more (+2)
Valente, 2004 Mutational screen 2 n.a. 50% 38(+/-1) p.Arg464His
+ p.Cys92Phe: comp. het.
p.Ala168Pro: hom
Valente, 2004 Family study 9 n.a. 56% 36(+/-8) p.Gly309Asp: hom
p.Trp437*: hom