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Overview of included studies for PARK-Parkin:
Click here for summary of patients' characteristics
Click here for summary of genetic findings
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Filter for
all included patients
index patients only
AAO < 50 (adjustable)
AAO >= 50 (adjustable)
females only
males only
homozygous only
heterozygous only
compound heterozygous only
homozygous and compound heterozygous
carrying
definitely pathogenic mutations
probably pathogenic mutations
possibly pathogenic mutations
c.(1083+1_1084-1)_(2679_?)del
c.(1083+1_1084-1)_(2679_?)dup
c.(1083+1_1084-1)_(1167+1_1168-1)del
c.(1167+1_1168-1)_(1285+1_1286-1)del
c.(1167+1_1168-1)_(1285+1_1286-1)dup
c.(1285+1_1286-1)_(2679_?))del
c.(1285+1_1286-1)_(2679_?)del
c.(1285+1_1286-1)_(2679_?)dup
c.(171+1_172-1)_(1083+1_1084-1)del
c.(171+1_172-1)_(412+1_413-1)[3]
c.(171+1_172-1)_(412+1_413-1)del
c.(171+1_172-1)_(412+1_413-1)dup
c.(171+1_172-1)_(534+1_535-1)del
c.(171+1_172-1)_(618+1_619-1)del
c.(171+1_172-1)_(734+1_735-1)del
c.(171+1_172-1)_(871+1_872-1)del
c.(171+1_172-1)_(871+1_872-1)dup
c.(171+1_172-1)_(933+1_934-1)dup
c.(412+1_413-1)_(534+1_535-1)del
c.(412+1_413-1)_(534+1_535-1)dup
c.(412+1_413-1)_(618+1_619-1)del
c.(412+1_413-1)_(734+1_735-1)del
c.(412+1_413-1)_(871+1_872-1)del
c.(534+1_535-1)_(618+1_619-1)del
c.(534+1_535-1)_(618+1_619-1)dup
c.(534+1_535-1)_(734+1_735-1)del
c.(534+1_535-1)_(871+1_872-1)del
c.(618+1_619-1)_(2679_?)del
c.(618+1_619-1)_(734+1_735-1)del
c.(618+1_619-1)_(734+1_735-1)dup
c.(618+1_619-1)_(871+1_872-1)del
c.(618+1_619-1)_(871+1_872-1)dup
c.(618+1_619-1)_(933+1_934-1)dup
c.(7+1_8-1)_(2679_?)del
c.(7+1_8-1)_(171+1_172-1)[3]
c.(7+1_8-1)_(171+1_172-1)del
c.(7+1_8-1)_(171+1_172-1)dup
c.(7+1_8-1)_(412+1_413-1)del
c.(7+1_8-1)_(412+1_413-1)dup
c.(7+1_8-1)_(534+1_535-1)[3]
c.(7+1_8-1)_(534+1_535-1)del
c.(7+1_8-1)_(534+1_535-1)dup
c.(7+1_8-1)_(618+1_619-1)del
c.(7+1_8-1)_(618+1_619-1)dup
c.(7+1_8-1)_(734+1_735-1)dup
c.(734+1_735-1)_(1083+1_1084-1)del
c.(734+1_735-1)_(1167+1_1168-1)del
c.(734+1_735-1)_(871+1_872-1)del
c.(734+1_735-1)_(871+1_872-1)dup
c.(734+1_735-1)_(933+1_934-1)del
c.(871+1_872-1)_(1083+1_1084-1)del
c.(871+1_872-1)_(1167+1_1168-1)del
c.(871+1_872-1)_(933+1_934-1)del
c.(871+1_872-1)_(933+1_934-1)dup
c.(933+1_934-1)_(2679_?)del
c.(933+1_934-1)_(1083+1_1084-1)del
c.(933+1_934-1)_(1083+1_1084-1)dup
c.(933+1_934-1)_(1167+1_1168-1)del
c.(?_-103-1)_(171+1_172-1)del
c.(?_-103-1)_(534+1_535-1)del
c.(?_-103-1)_(7+1_8-1)del
c.(?_-103-1)_(7+1_8-1)dup
c.1-17782_7+123791del
c.101_102delAG
c.101delA
c.1030delG
c.1046_1047delAA
c.1055G>A
c.1072_1073delCTinsA
c.1083+1G>A
c.1083+1delG
c.1083+5G>T
c.1084-1delG
c.1084-3859_1167+1618del
c.1097G>A
c.110C>T
c.113_115delinsTT
c.1176_1177delAG
c.1183G>T
c.1225G>T
c.1240delA
c.1244C>A
c.1252T>C
c.125G>C
c.1283_1284insA
c.1286-3C>G
c.1289G>A
c.1292G>T
c.1310C>T
c.1321T>C
c.1334G>A
c.1335G>A
c.1337G>T
c.1358G>A
c.1378dupG
c.155delA
c.167T>A
c.171+11347_618+17328del395200
c.171+50347_413-21490del
c.171+53980_534+4116del
c.171+67708_734+58232delins28
c.172-11910_413-22473delinsAT
c.172-131341_412-33982delinsTTACGTATTAAACAAACATTACATT
c.172-16570_734+51279del
c.172-16728_412+422del
c.172-41049_412+2829del
c.172-4427_413-6108del
c.172-50_412+113dup
c.172-50_734+49del
c.172-5243_412+18307del
c.172-52958_734+8943del
c.172-70365_413-16061del
c.172-83430_534+21281del
c.172-87670_534+27499del
c.172-99350_871+11495del
c.1A>T
c.219_220dupGT
c.222dupG
c.235G>T
c.2T>C
c.337_376delCCAGGAGACTCTGTGGGGCTGGCTGTCATTCTGCACACTG
c.412+16037_734+54332delinsATCTGATAAAGTCAG
c.412+25822_535-71707delinsTGA
c.412+2768_734+92226del
c.413-10504_534+408delins20
c.413-16409_534+27042delinsATGCCTGTAA
c.413-18966_871+72957delinsA
c.413-19615_534+16749del
c.413-26603_534+367del27092ins28
c.413-27055_534+20428del
c.413-3460_534+30928del
c.413-4730_871+63575del
c.461delG
c.465_466delAA
c.483A>T
c.511C>T
c.532C>T
c.534+17825_735-64158del
c.534+457_734+41025del
c.535-104014_618+24033delTGAGTGATGCCTins
c.535-49422_619-12906del
c.53delA
c.574A>G
c.605C>T
c.618+17A>C
c.618+2T>A
c.619-1G>A
c.619-1G>C
c.619-46243_734+71252dup
c.619-46638_871+105513del
c.633A>T
c.635G>A
c.677dupT
c.7+1G>A
c.7+1G>T
c.701G>A
c.712delT
c.714C>G
c.718A>G
c.719C>G
c.719C>T
c.727G>A
c.734+61166_871+2877dupinsTGCAATT
c.735-21670_1083+48265delinsATG
c.735-74079_871+19735del
c.758G>A
c.758G>T
c.766C>T
c.8-224652_618+32307dupinvAAGATTTins
c.8-23204_172-3140del
c.8-39T>G
c.8-48180_171+84346del
c.8-51491_172-56018del
c.8-51502_172-33560dupinsT
c.8-54_171+49del
c.8-54_534+49del
c.8-60777_171+2682del
c.8-61987_171+4006del
c.804T>A
c.823C>T
c.842C>G
c.850G>C
c.865T>G
c.871delG
c.872-1G>C
c.872-60873_1167+2393del
c.930G>C
c.931C>T
c.934-20481_1083+134117del
c.968_973delGTGTCC
c.971delT
c.97C>T
c.98G>A
c.994T>C
c.996C>A
Country
Algeria
Australia
Brazil
Canada
China
Colombia
Cuba
Czech Republic
Denmark
France
Greece
India
Iran
Ireland
Israel
Italy
Japan
Jordan
Mexico
Morocco
Netherlands
Norway
Peru
Poland
Portugal
Russia
Saudi Arabia
Serbia
South Africa
South Korea
Spain
Taiwan
Tunisia
Turkey
United Kingdom
United States
Study
Study design
N cases
Ethnicities
Sex
(%
♂
)
Mean AAO (+/- SD)
Reported mutations
Ruffmann, 2012
Case report/Case series
2
n.a.
n.a.
n.a.
p.Arg275Trp
+
c.(171+1_172-1)_(412+1_413-1)del
: comp. het.
Moura, 2012
Mutational screen
1
n.a.
100%
46
c.(534+1_535-1)_(734+1_735-1)del
+
c.(171+1_172-1)_(412+1_413-1)dup
: comp. het.
Funayama, 2012
Family study
1
A
0%
15
c.(171+1_172-1)_(871+1_872-1)dup
+
c.(171+1_172-1)_(618+1_619-1)del
: comp. het.
Haylett, 2012
Mutational screen
4
n.a.
n.a.
39(+/-15)
c.(412+1_413-1)_(534+1_535-1)del
+
p.Gly430Asp
: comp. het.
c.(171+1_172-1)_(412+1_413-1)del
+
p.Pro113Thrfs*51
: comp. het.
c.(534+1_535-1)_(618+1_619-1)dup
+
c.(7+1_8-1)_(734+1_735-1)dup
: comp. het.
Elfferich, 2011
Mutational screen
12
n.a.
43%
35(+/-12)
c.8-61987_171+4006del
+
c.172-5243_412+18307del
: comp. het.
c.734+61166_871+2877dupinsTGCAATT
+
c.8-48180_171+84346del
: comp. het.
p.Gln34Argfs*5
+
c.172-4427_413-6108del
: comp. het.
p.Arg275Trp
: comp. het.
c.413-26603_534+367del27092ins28
: comp. het.
c.534+17825_735-64158del
: comp. het.
c.171+11347_618+17328del395200
+
c.1-17782_7+123791del
: comp. het.
c.8-51502_172-33560dupinsT
: comp. het.
Show more (+5)
Hassin-Baer, 2011
Family study
12
B
67%
26(+/-10)
p.Gln34Argfs*10
: hom
Ghazavi, 2011
Mutational screen
7
n.a.
86%
26(+/-6)
p.Cys441Arg
+
p.Arg42Pro
: comp. het.
c.(412+1_413-1)_(534+1_535-1)del
+
p.Thr240Met
: comp. het.
c.(171+1_172-1)_(412+1_413-1)del
: hom
c.(534+1_535-1)_(618+1_619-1)del
: hom
c.(534+1_535-1)_(734+1_735-1)del
: hom
c.1083+1G>A
: hom
Show more (+3)
Yoritaka, 2011
Other/Mixed
5
A
80%
41(+/-14)
c.(7+1_8-1)_(171+1_172-1)del
: hom
c.(534+1_535-1)_(618+1_619-1)del
: hom
c.(7+1_8-1)_(534+1_535-1)del
: hom
c.(618+1_619-1)_(871+1_872-1)del
: hom
Show more (+1)
Pacelli, 2011
Family study
2
C
0%
33(+/-3)
c.(171+1_172-1)_(412+1_413-1)del
+
c.(7+1_8-1)_(412+1_413-1)del
: comp. het.
c.(171+1_172-1)_(412+1_413-1)del
: n.a.
c.(7+1_8-1)_(412+1_413-1)del
: het
Guo, 2011
Mutational screen
6
A
100%
32(+/-7)
c.(171+1_172-1)_(412+1_413-1)del
: hom
c.(171+1_172-1)_(412+1_413-1)del
+
p.Cys238Alafs*21
: comp. het.
c.(412+1_413-1)_(534+1_535-1)del
: hom
c.(534+1_535-1)_(618+1_619-1)del
: hom
c.(618+1_619-1)_(734+1_735-1)del
+
c.8-39T>G
: comp. het.
c.(534+1_535-1)_(618+1_619-1)del
Show more (+3)
+
c.(7+1_8-1)_(412+1_413-1)del
: comp. het.
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