Signs and symptoms
Genes
Methods
Disclaimer
About us
Publications
Ataxia Resource
Contact us
Patients
Users
Database
Login
Overview of included studies for PARK-PRKN:
Click here for summary of patients' characteristics
Click here to show world map of all countries
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
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
Pankratz, 2009
Mutational screen
24
n.a.
n.a.
41(+/-15)
p.Gly430Asp
+
c.(7+1_8-1)_(534+1_535-1)[3]
: comp. het.
p.Arg33Gln
+
c.(412+1_413-1)_(534+1_535-1)del
+
c.1083+5G>T
: comp. het.
p.Gln34Argfs*5
: hom
p.Pro113Thrfs*51
: hom
p.Pro113Thrfs*51
+
c.(7+1_8-1)_(412+1_413-1)del
: comp. het.
c.(171+1_172-1)_(534+1_535-1)del
: comp. het.
c.(412+1_413-1)_(734+1_735-1)del
: comp. het.
p.Thr240Met
+
c.(534+1_535-1)_(734+1_735-1)del
: comp. het.
p.Pro437Leu
: hom
p.Lys211Asn
: comp. het.
p.Pro437Leu
+
p.Arg275Trp
: comp. het.
c.1083+1delG
: comp. het.
c.(871+1_872-1)_(933+1_934-1)del
+
c.(618+1_619-1)_(734+1_735-1)del
: comp. het.
c.(171+1_172-1)_(534+1_535-1)del
: hom
p.Asn52Metfs*29
: hom
p.Asn52Metfs*29
: comp. het.
Show more (+13)
Brooks, 2009
Mutational screen
4
C
n.a.
32(+/-7)
p.Gln34Argfs*5
+
p.Ala38Valfs*6
: comp. het.
p.Gln171*
+
p.Arg275Trp
: comp. het.
p.Pro113Thrfs*51
: hom
c.(7+1_8-1)_(171+1_172-1)del
: comp. het.
Show more (+1)
Camargos, 2009
Mutational screen
1
n.a.
100%
22
p.Thr240Met
+
p.Asn52Metfs*29
: comp. het.
Lee, 2009
Mutational screen
2
n.a.
50%
27(+/-5)
p.Cys441Arg
+
c.(412+1_413-1)_(534+1_535-1)del
: comp. het.
Amboni, 2009
Case report/Case series
1
n.a.
100%
3
p.Thr240Met
+
c.(7+1_8-1)_(534+1_535-1)del
: comp. het.
Macedo, 2009
Mutational screen
4
n.a.
50%
32(+/-11)
p.Arg42Pro
: hom
c.(171+1_172-1)_(412+1_413-1)del
: hom
p.Arg275Trp
+
c.(171+1_172-1)_(412+1_413-1)del
: comp. het.
c.(734+1_735-1)_(871+1_872-1)dup
Show more (+1)
+
c.(412+1_413-1)_(534+1_535-1)del
: comp. het.
Reetz, 2009
Other/Mixed
5
n.a.
80%
39(+/-19)
c.(734+1_735-1)_(871+1_872-1)del
+
p.Val324Alafs*111
: comp. het.
p.Arg275Trp
+
c.(412+1_413-1)_(534+1_535-1)del
: comp. het.
c.(734+1_735-1)_(871+1_872-1)del
: hom
c.(933+1_934-1)_(1083+1_1084-1)del
Show more (+1)
+
c.(171+1_172-1)_(534+1_535-1)del
: comp. het.
Bardien, 2009
Mutational screen
3
n.a.
n.a.
27(+/-0)
c.(412+1_413-1)_(534+1_535-1)del
: hom
c.(171+1_172-1)_(534+1_535-1)del
: hom
Mellick, 2009
Mutational screen
1
n.a.
0%
30
p.Gly430Asp
: hom
Myhre, 2008
Family study
2
n.a.
100%
32(+/-0)
c.(412+1_413-1)_(534+1_535-1)del
: hom
« First page
‹ Previous
1
2
3
4
5
6
7
8
9
10
11
12
13
14
15
16
Next ›
Last page »
Show all studies on one page
© University of Lübeck. Last updated on
Dec. 2, 2020. Version: 3.5.95
MDSGene works best with JavaScript enabled. Please follow
these instructions
to activate JavaScript in your web browser.
MDSGene works best with JavaScript enabled. Please follow
these instructions
to activate JavaScript in your web browser.
