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Overview of included studies for HSP-ATL1:
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.1006T>C
c.1025C>A
c.1030C>T
c.1036T>G
c.1039A>C
c.1040T>C
c.1064A>T
c.1065C>A
c.1123T>C
c.1193C>T
c.1202T>C
c.1220A>G
c.1220_1222delAGA
c.1222A>G
c.1223T>C
c.1226G>A
c.1237T>G
c.1243C>T
c.1244G>A
c.1246C>T
c.1247G>A
c.1306_1308delAAT
c.1308T>A
c.1319A>C
c.1376A>G
c.1406G>C
c.1423A>G
c.1445G>T
c.1462_1463insTG
c.1474dupG
c.1483C>T
c.1504dupG
c.1505_1506delAG
c.1520_1521insT
c.311A>G
c.35-3C>T
c.353G>A
c.452T>C
c.458G>C
c.460C>G
c.467C>T
c.470T>C
c.470T>G
c.473G>C
c.481G>C
c.484A>C
c.488T>C
c.493G>A
c.505A>G
c.565C>G
c.572A>G
c.587A>G
c.649C>T
c.650G>A
c.715C>T
c.716G>T
c.730G>A
c.740A>C
c.740A>G
c.749T>C
c.757G>A
c.773A>G
c.776C>A
c.776C>T
c.916A>G
c.944T>G
c.998T>A
Country
Australia
Austria
Belgium
Bulgaria
Canada
China
Czech Republic
Denmark
Greece
Italy
Japan
Morocco
Netherlands
Norway
Pakistan
Poland
Portugal
Slovenia
South Africa
South Korea
Spain
Sudan
Sweden
Turkey
United Kingdom
United States
Study
Study design
N cases
Ethnicities
Sex
(%
♂
)
Mean AAO (+/- SD)
Reported mutations
Lu, 2018
Mutational screen
4
A
50%
6(+/-6)
p.Thr490Alafs*18
: het
p.Arg217Gln
: het
p.Arg239Cys
: het
p.Arg416Cys
: het
Show more (+1)
Duz, 2018
Family study
12
n.a.
75%
3(+/-4)
p.Ser259Tyr
: het
p.Leu157Ser
: het
Travaglini, 2018
Mutational screen
2
n.a.
100%
3(+/-1)
p.Ser259Phe
: het
p.Val253Ile
: het
Mészárosová, 2017
Mutational screen
5
C
40%
18(+/-29)
p.Asn104Ser
: het
p.Met169Val
: het
p.Ser306Gly
: het
p.Met347Leu
: het
p.Asn355Ile
: het
Show more (+2)
Chrestian, 2017
Mutational screen
23
C
65%
7(+/-8)
p.Asn436del
: het
p.Met347Thr
: het
p.Arg239Cys
: het
p.Gly409Asp
: het
p.Lys407del
: het
Show more (+2)
Elsayed, 2016
Case report/Case series
2
D
100%
5(+/-4)
p.Phe151Ser
: het
Andersen, 2016
Case report/Case series
1
C
0%
1
p.Leu401Pro
: het
Polymeris, 2016
Mutational screen
3
C
67%
2(+/-1)
p.Asn355Lys
: het
p.Arg239Cys
: het
Willkomm, 2016
Family study
3
B
100%
4(+/-4)
p.Arg217*
: hom
Elert-Dobkowska, 2015
Mutational screen
10
C
n.a.
8(+/-6)
p.Ser153Thr
: het
p.Arg158Thr
: het
p.Arg239Cys
: het
p.Gly244Arg
: het
p.His247Arg
: het
p.Ile333Lys
: het
p.Arg415Trp
: het
p.Arg495Trp
: het
Show more (+5)
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Feb. 11, 2020. Version: 3.5.91
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