Overview of included studies for PARK-PRKN:
Filter for
carrying
Country
Study Study design N cases Ethnicities Sex
(% )
Mean AAO (+/- SD) Reported mutations
Wu, 2005 Other/Mixed 2 A 100% 34(+/-3) p.Gly284Arg
+ c.(7+1_8-1)_(171+1_172-1)del: comp. het.
Khan, 2005 Family study 5 n.a. 40% 28(+/-9) c.(412+1_413-1)_(534+1_535-1)del: hom
Bertoli-Avella, 2005 Other/Mixed 17 n.a. n.a. 28(+/-9) c.(171+1_172-1)_(534+1_535-1)del
+ c.(7+1_8-1)_(171+1_172-1)del: comp. het.
c.(171+1_172-1)_(412+1_413-1)del: hom
p.Thr415Asn
+ c.(171+1_172-1)_(412+1_413-1)del: comp. het.
p.Cys418Arg: comp. het.
p.Arg42Pro
+ c.(618+1_619-1)_(734+1_735-1)del: comp. het.
c.(871+1_872-1)_(933+1_934-1)del: hom
c.(7+1_8-1)_(412+1_413-1)del: hom
c.1286-3C>G: comp. het.
c.(534+1_535-1)_(734+1_735-1)del: hom
Show more (+6)
Kumru, 2004 Other/Mixed 6 n.a. 67% 33(+/-6) p.Pro113Thrfs*51: hom
c.(7+1_8-1)_(171+1_172-1)del: hom
c.(7+1_8-1)_(534+1_535-1)del: hom
c.(534+1_535-1)_(734+1_735-1)del: hom
p.Asn52Metfs*29: hom
Show more (+2)
Capecci, 2004 Case report/Case series 1 n.a. 100% 22 c.(171+1_172-1)_(412+1_413-1)del: hom
Sasaki, 2004 Case report/Case series 1 n.a. n.a. 33 c.(171+1_172-1)_(412+1_413-1)del: hom
Poorkaj, 2004 Mutational screen 3 C 33% 20(+/-15) c.(171+1_172-1)_(412+1_413-1)del
+ p.Pro113Thrfs*51: comp. het.
c.(7+1_8-1)_(171+1_172-1)del: comp. het.
Dogu, 2004 Other/Mixed 3 n.a. 33% 27(+/-10) c.(412+1_413-1)_(534+1_535-1)del: hom
Wiley, 2004 Mutational screen 3 n.a. 67% 32(+/-9) p.Pro113Thrfs*51
+ p.Arg275Trp: comp. het.
c.(171+1_172-1)_(412+1_413-1)dup: comp. het.
c.618+17A>C
+ c.(171+1_172-1)_(534+1_535-1)del: comp. het.
Djarmati, 2004 Mutational screen 1 n.a. 100% 41 c.(734+1_735-1)_(871+1_872-1)del
+ p.Pro437Leu: comp. het.