Overview of included studies for PARK-PRKN:
Filter for
carrying
Country
Study Study design N cases Ethnicities Sex
(% ♂) 		Mean AAO (+/- SD) Reported mutations
Hedrich, 2002 Mutational screen 3 n.a. n.a. 19(+/-7) p.Arg42Pro
+ c.(412+1_413-1)_(534+1_535-1)del: comp. het.
p.Pro113Thrfs*51
+ p.Arg275Trp: comp. het.
c.(171+1_172-1)_(534+1_535-1)del
+ p.Asn52Metfs*29: comp. het.
Hilker, 2002 Mutational screen 4 n.a. n.a. n.a. p.Val324Alafs*111
+ c.(618+1_619-1)_(734+1_735-1)del: comp. het.
p.Val324Alafs*111: hom
c.(618+1_619-1)_(734+1_735-1)del: hom
Pramstaller, 2002 Other/Mixed 1 n.a. 0% 29 c.(734+1_735-1)_(871+1_872-1)dup
+ p.Arg275Trp: comp. het.
Farrer, 2001 Other/Mixed 4 C 100% 33(+/-11) p.Pro113Thrfs*51
+ p.Arg275Trp: comp. het.
c.619-46243_734+71252dup: comp. het.
Lücking, 2001 Family study 1 n.a. 100% 31 c.(171+1_172-1)_(534+1_535-1)del
+ c.(7+1_8-1)_(171+1_172-1)[3]: comp. het.
Hedrich, 2001 Mutational screen 4 n.a. 75% 28(+/-10) c.(7+1_8-1)_(171+1_172-1)del
+ c.(534+1_535-1)_(618+1_619-1)del: comp. het.
p.Lys349Serfs*20
+ c.(171+1_172-1)_(412+1_413-1)del: comp. het.
c.(734+1_735-1)_(871+1_872-1)del: hom
Kuroda, 2001 Family study 3 A 67% 36(+/-2) c.(171+1_172-1)_(534+1_535-1)del: hom
Portman, 2001 Sib pair study 2 JO 100% 28(+/-2) c.(412+1_413-1)_(734+1_735-1)del: hom
Jeon, 2001 Case report/Case series 1 A 0% 12 c.(412+1_413-1)_(534+1_535-1)del: hom
Nisipeanu, 2001 Family study 6 B 83% 30(+/-7) p.Gln34Argfs*10: hom
© University of Lübeck. Last updated on Dec. 2, 2020. Version: 3.5.95