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Overview of included studies for HSP-SPAST:
Click here for summary of patients' characteristics
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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.(1098+1+1099-1)_(1493+1_1494-1)del
c.(1098+1_1099-1)_(3149_?)del
c.(1098+1_1099-1)_(1173+1_1174-1)del
c.(1098+1_1099-1)_(1245+1_1246-1)del
c.(1173+1_1174-1)_(3149_?)del
c.(1173+1_1174-1)_(1245+1_1246-1)del
c.(1173+1_1174-1)_(1493+1_1494-1)del
c.(1245+1_1246-1)_(3149_?)del
c.(1245+1_1246-1)_(1321+1_1322-1)del
c.(1245+1_1246-1)_(1493+1_1494-1)del
c.(1245+1_1246-1)_(1728+1_1729-1)del
c.(1245+1_1246-1)_(1728+1_1729-1)dup
c.(1493+1_1494-1)_(1536+1_1537-1)del
c.(1493+1_1494-1)_(1728+1_1729-1)del
c.(1536+1_1537-1)_(1687+1_1688-1)dup
c.(1536+1_1537-1)_(1728+1_1729-1)del
c.(1687+1_1688-1)_(3149_?)del
c.(1687+1_1688-1)_(1728+1_1729-1)del
c.(1687+1_1688-1)_(1728+1_1729-1)dup
c.(1728+1_1729-1)_(3149_?)del
c.(415+1_416-1)_(3149_?)del
c.(415+1_416-1)_(1245+1_1246-1)del
c.(415+1_416-1)_(1493+1_1494-1)dup
c.(415+1_416-1)_(1728+1_1729-1)del
c.(586+1_587-1)_(3149_?)del
c.(586+1_587-1)_(1098+1_1099-1)del
c.(586+1_587-1)_(1245+1_1246-1)del
c.(682+1_683-1)_(3149_?)del
c.(682+1_683-1)_(1004+1_1005-1)del
c.(682+1_683-1)_(1098+1_1099-1)del
c.(682+1_683-1)_(870+1_871-1)del
c.(870+1_871-1)_(1004+1_1005-1)del
c.(870+1_871-1)_(1098+1_1099-1)del
c.(?_-221)_(3149_?)del
c.(?_-221)_(1245+1_1246-1)del
c.(?_-221)_(415+1_416-1)del
c.(?_-221)_(415+1_416-1)dup
c.(?_-221)_(502+1_503-1)del
c.(?_-221)_(586+1_587-1)del
c.(?_-221)_(682+1_683-1)del
c.1-763_c.683-650del
c.1004+1G>T
c.1004+2T>A
c.1004+2T>G
c.1004+3A>C
c.1004+5G>C
c.1005-1G>A
c.1005-1G>C
c.1005-2A>G
c.1014delT
c.1024G>C
c.1031T>A
c.1036G>T
c.1039C>A
c.1039C>T
c.1040A>C
c.1048G>C
c.1054C>T
c.1055A>C
c.1067A>G
c.1070T>A
c.1072G>C
c.1078C>G
c.1079T>C
c.1081C>A
c.1081C>T
c.1082C>G
c.1082C>T
c.1088T>C
c.1091G>C
c.1092_1098+1delGCCTGAGG
c.1096G>A
c.1098+1G>A
c.1098+1G>C
c.1098+1_1098+2delinsCTCAGA
c.1099-1G>A
c.1099-2_1099delAGT
c.1100T>C
c.1101_1103delGTT
c.1103T>C
c.1105A>C
c.1105dupA
c.1108G>A
c.1111C>T
c.1114A>G
c.1120C>A
c.1121C>G
c.1128A>C
c.1133T>A
c.1133T>C
c.1136dupT
c.1137_1142delACTCTT
c.1137dupA
c.1139T>A
c.1141T>C
c.1151C>G
c.1153G>T
c.1154G>A
c.1158T>G
c.1160_1170del11
c.1163A>G
c.1165A>G
c.1167_1168delAA
c.1168A>G
c.1172T>C
c.1173+1G>A
c.1174-1G>A
c.1174-1G>C
c.1174-1G>T
c.1174-1_1174delinsCT
c.1174_1180delGCTAAAG
c.1174delG
c.1176dupT
c.1177_1188del12
c.1180delG
c.1185delA
c.1192_1193delinsT
c.1196C>T
c.1209C>A
c.1209C>G
c.1209_1211delCTT
c.1210_1212delTTT
c.1215_1219delTATAA
c.1215dupT
c.1216A>G
c.1217T>G
c.1225G>A
c.1226C>A
c.1238C>T
c.1242A>G
c.1243_1244insA
c.1244dupA
c.1245+1G>A
c.1245+1G>T
c.1245+3insT
c.1245+4A>G
c.1245+5G>A
c.1245delC
c.1246-1G>C
c.1246-2896_1493+523dup
c.1246-4_1246-2delinsCT
c.1250G>A
c.1251_1253delAGA
c.1253_1255delAAG
c.1255G>T
c.1267G>T
c.1270A>G
c.1270_1271dupAG
c.1276C>G
c.1276C>T
c.1276_1277delCT
c.127G>T
c.1280T>G
c.1281delT
c.1281dupT
c.1282G>C
c.1282delG
c.1291C>T
c.1300C>T
c.1304C>T
c.1306T>C
c.1307C>T
c.1317delT
c.131C>A
c.131C>T
c.1321+2T>A
c.1321G>A
c.1322-2A>C
c.1322-2A>G
c.1322A>G
c.1322A>T
c.1322_31del29
c.1324G>A
c.1324G>T
c.1325A>C
c.1326_1331delAGTTGA
c.1330G>A
c.1331A>G
c.1332T>G
c.1334G>C
c.1339T>G
c.1340delT
c.1341_1342insTC
c.134C>A
c.1350_1351delAA
c.1352_1356delGAGAA
c.1353_1357delAGAAG
c.1355_1357delAAG
c.1356delA
c.1358_1360dupGGG
c.1360G>A
c.1361A>G
c.1375A>G
c.1376G>C
c.1378C>A
c.1378C>T
c.1379G>A
c.1379G>T
c.1379delG
c.1382T>C
c.1384A>G
c.1385A>G
c.1387A>G
c.1392A>T
c.139A>T
c.1402G>T
c.1408G>T
c.1409A>T
c.1412G>A
c.1413+1G>A
c.1413+2T>A
c.1413+2T>G
c.1413+3A>C
c.1413+3_1413+6delAAGT
c.1413+4A>G
c.1413+5G>A
c.1413+6T>C
c.1413dupT
c.1414-1G>A
c.1414-1G>C
c.1414-2A>C
c.1414-2A>G
c.1414G>A
c.1417C>T
c.1418_1431del14
c.1426_1427delGG
c.1435_1441delAGAGTAC
c.1437_1438delAG
c.1439_1445delinsC
c.1442_1443insA
c.1447_1448delAT
c.1450G>C
c.1450_1458delGGTGCAACT
c.1454C>T
c.1459A>C
c.1459A>G
c.1461_1462dupTA
c.1466C>G
c.1466C>T
c.1468C>T
c.1474C>T
c.1478A>G
c.1492A>G
c.1492_1493+2delAGGT
c.1493+1G>A
c.1493+1_1493+2insATGG
c.1493+2T>C
c.1493+2_1493+5delTAGG
c.1493G>C
c.1494-2A>G
c.1494G>T
c.1495C>T
c.1496G>A
c.1504A>T
c.1507C>T
c.1507_1509dupCGG
c.1511dupT
c.1512_1514dupATA
c.1517T>A
c.1517T>G
c.1520_1521dupCT
c.1529A>T
c.1535delA
c.1536+1G>A
c.1536+1G>T
c.1540A>G
c.1543_1545delCTA
c.1555A>T
c.155A>G
c.1560_1563delTCTG
c.1573C>T
c.1597G>T
c.1601T>C
c.1601_1608delins30
c.1608_1615delACTTGCTA
c.1610T>C
c.1610T>G
c.1616+1G>A
c.1617-1G>A
c.1617-1G>T
c.1617-2A>G
c.1625A>G
c.1630_1643del14
c.1634C>T
c.1635_1636insAA
c.1636G>A
c.1642G>A
c.1644_1649dupCCTAAC
c.1646T>C
c.1646dupT
c.1649C>T
c.1650_1651delAG
c.1651G>C
c.1656_1664delinsTGACCT
c.1664A>G
c.1666G>A
c.1667C>T
c.1667_1668delCA
c.1670C>T
c.1673T>G
c.1675G>C
c.1676G>A
c.1676insG
c.1684C>T
c.1685G>A
c.1687+1G>A
c.1687+1G>T
c.1687+2T>G
c.1687+2_1687+6delTAGGT
c.1687G>A
c.1688-2A>G
c.1688-3C>G
c.1688–1G>C
c.1689_1698del10
c.1691delT
c.1702C>T
c.1708_1716delAAGAATATG
c.1714_1715delAT
c.1724G>T
c.1728+1G>A
c.1728+1G>C
c.1728+1G>T
c.1728+2T>C
c.1728+2T>G
c.1729-1G>C
c.1729-2A>G
c.1729-2A>T
c.1732A>T
c.1735A>C
c.1738_1740delinsGA
c.1739T>C
c.1741C>T
c.1750G>C
c.1751A>T
c.1771A>G
c.1774delA
c.1776_1780delAAAAC
c.1779dupA
c.1783A>C
c.1789A>G
c.1805_1808dupAAGC
c.1812dupC
c.1815dupA
c.1821G>A
c.1821G>C
c.1837G>C
c.1838A>C
c.1838A>G
c.1840dupA
c.1841C>T
c.1841_1842delCC
c.1849T>G
c.194G>A
c.283G>A
c.283_323del41
c.286delG
c.289C>A
c.313_320delCCGGCGCC
c.334G>A
c.334G>T
c.343_352del10
c.343_352dup10
c.349C>T
c.373G>T
c.382delT
c.403G>T
c.412A>T
c.415+1G>A
c.415+1G>T
c.421C>T
c.422_425delAGAA
c.427dupG
c.439G>T
c.443G>A
c.444G>A
c.448_451delAAGA
c.450_451delGA
c.451_454delAAAG
c.458delT
c.469delG
c.484G>A
c.486dupT
c.499C>T
c.513_514delTG
c.524_525dupGA
c.532C>T
c.549dupT
c.562delG
c.571delC
c.577C>T
c.583C>G
c.584_585delTA
c.586+9_586+12delTAAT
c.602T>A
c.629_682+22003delinsAGT
c.67_85dup19
c.683-1G>A
c.683-1G>T
c.703dupA
c.706_710delAAAGA
c.712C>A
c.727_737del11
c.730_731insT
c.732_733insCA
c.734C>G
c.746C>G
c.751dupA
c.781dupT
c.782C>G
c.807C>A
c.807C>G
c.80_98dup19
c.838C>T
c.839_840delAG
c.843_846dupATCT
c.857_859delCTA
c.85dupC
c.867_868delTA
c.868A>T
c.870+1G>A
c.870+1delG
c.870+3A>G
c.871-2A>G
c.871delG
c.872_875delinsCCA
c.878C>T
c.879delG
c.906delT
c.90_91insAGCC
c.913_923delins11
c.926G>A
c.932_938delAAAAAGA
c.936_937insA
c.936dupA
c.937delG
c.941T>C
c.945delG
c.961dupG
c.96C>G
c.977dupA
c.983_984dupTA
c.990_993delTGAA
Country
Armenia
Australia
Austria
Brazil
Bulgaria
Canada
China
Czech Republic
Denmark
Estonia
France
Germany
Greece
Hungary
Ireland
Italy
Japan
Netherlands
Norway
Poland
Portugal
Russia
South Korea
Spain
Taiwan
Tunisia
Turkey
United Kingdom
United States
Study
Study design
N cases
Ethnicities
Sex
(%
♂
)
Mean AAO (+/- SD)
Reported mutations
Mead, 2001
Family study
17
n.a.
29%
33(+/-13)
p.Phe427Leufs*11
: het
Higgins, 2001
Family study
11
C
55%
n.a.
c.586+9_586+12delTAAT
: het
De, 2001
Case report/Case series
2
n.a.
50%
40(+/-0)
p.Asp313Argfs*6
: het
Namekawa, 2001
Family study
5
A
60%
46(+/-5)
p.Leu380Thrfs*14
: het
McDermott, 2001
Family study
2
C
100%
42(+/-43)
p.Gly484_Thr486del
+
p.Asn510Ile
: comp. het.
p.Gly484_Thr486del
: het
Lindsey, 2000
Family study
5
n.a.
75%
47(+/-12)
p.Ser44Leu
: het
c.1413+3_1413+6delAAGT
: het
c.1687+2T>G
: het
p.Asp584His
: het
Show more (+1)
Santorelli, 2000
Family study
6
C
50%
45(+/-9)
c.1728+1G>C
: het
White, 2000
Family study
5
C
40%
11(+/-6)
p.Arg424Gly
: het
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