MCID: SPS091
MIFTS: 23

Spastic Paraplegia 4

Categories: Rare diseases, Genetic diseases, Neuronal diseases, Eye diseases, Metabolic diseases, Gastrointestinal diseases, Bone diseases, Mental diseases

Aliases & Classifications for Spastic Paraplegia 4

MalaCards integrated aliases for Spastic Paraplegia 4:

Name: Spastic Paraplegia 4 23 50 24 25
Spg4 23 50 24 25
Spastic Paraplegia Type 4 24 25 69
Hereditary Spastic Paraplegia, Spastin Type 23 24
Spast-Associated Hsp 23 24
Familial Spastic Paraplegia Autosomal Dominant 2 50
Spastic Paraplegia 4, Autosomal Dominant 69
Autosomal Dominant Spastic Paraplegia 4 50
Spg 4 24
Fsp2 50
Hsp4 24

Characteristics:

GeneReviews:

23
Penetrance Penetrance is age dependent and incomplete even in older individuals who have a spast pathogenic variant. it is estimated to be 85% by age 45 years [fonknechten et al 2000]. using data from a series of individuals with spast variants diagnosed in paris, the calculated penetrance is approximately 50% at age 27 years and 80% at 50 years [author, personal observation]. age dependence is explained partly by variability in age at onset and partly by difficulty in determining with precision the age of onset when it is insidious...

Classifications:



Summaries for Spastic Paraplegia 4

NIH Rare Diseases : 50 spastic paraplegia 4 (spg4) is the most common type of hereditary spastic paraplegia (hsp) inherited in an autosomal dominant manner. disease onset ranges from infancy to older adulthood. spg4 is characterized by slowly progressive muscle weakness and spasticity (stiff or rigid muscles) in the lower half of the body. in rare cases, individuals may have a more complex form with seizures, ataxia, and dementia. spg4 is caused by mutations in the spast gene. severity of symptoms usually worsens over time, however some individuals remain mildly affected throughout their lives. medications, such as antispastic drugs and physical therapy may aid in stretching spastic muscles and preventing contractures (fixed tightening of muscles). last updated: 5/27/2016

MalaCards based summary : Spastic Paraplegia 4, also known as spg4, is related to spastic paraplegia 4, autosomal dominant and paraplegia, and has symptoms including low back pain, agitation and abnormal pyramidal signs. An important gene associated with Spastic Paraplegia 4 is SPAST (Spastin). The drugs Acetylcholine and abobotulinumtoxinA have been mentioned in the context of this disorder.

Genetics Home Reference : 25 Spastic paraplegia type 4 is part of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and the development of paralysis of the lower limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: pure and complex. The pure types involve only the lower limbs, whereas the complex types also involve the upper limbs (to a lesser degree) and the nervous system. Spastic paraplegia type 4 is a pure hereditary spastic paraplegia.

GeneReviews: NBK1160

Related Diseases for Spastic Paraplegia 4

Diseases in the Spastic Paraplegia 3a family:

Spastic Paraplegia 78, Autosomal Recessive Spastic Paraplegia 29, Autosomal Dominant
Spastic Paraplegia 63 Spastic Paraplegia 47, Autosomal Recessive
Spastic Paraplegia 23 Spastic Paraplegia 44, Autosomal Recessive
Spastic Paraplegia 74, Autosomal Recessive Spastic Paraplegia 4, Autosomal Dominant
Spastic Paraplegia 31, Autosomal Dominant Spastic Paraplegia 13, Autosomal Dominant
Spastic Paraplegia 30, Autosomal Recessive Spastic Paraplegia 57, Autosomal Recessive
Spastic Paraplegia 42, Autosomal Dominant Spastic Paraplegia 14, Autosomal Recessive
Spastic Paraplegia 38, Autosomal Dominant Spastic Paraplegia 79, Autosomal Recessive
Spastic Paraplegia 56, Autosomal Recessive Spastic Paraplegia 72, Autosomal Recessive
Spastic Paraplegia 77, Autosomal Recessive Spastic Paraplegia 25, Autosomal Recessive
Spastic Paraplegia 48, Autosomal Recessive Spastic Paraplegia 50, Autosomal Recessive
Spastic Paraplegia 53, Autosomal Recessive Spastic Paraplegia 37, Autosomal Dominant
Spastic Paraplegia 54, Autosomal Recessive Spastic Paraplegia 18, Autosomal Recessive
Spastic Paraplegia 5a, Autosomal Recessive Spastic Paraplegia 8, Autosomal Dominant
Spastic Paraplegia 46, Autosomal Recessive Spastic Paraplegia 19, Autosomal Dominant
Spastic Paraplegia 27, Autosomal Recessive Spastic Paraplegia 64, Autosomal Recessive
Spastic Paraplegia 33, Autosomal Dominant Spastic Paraplegia 9a, Autosomal Dominant
Spastic Paraplegia 9b, Autosomal Recessive Spastic Paraplegia 45, Autosomal Recessive
Spastic Paraplegia 62 Spastic Paraplegia 41, Autosomal Dominant
Spastic Paraplegia 76, Autosomal Recessive Spastic Paraplegia 10, Autosomal Dominant
Spastic Paraplegia 26, Autosomal Recessive Spastic Paraplegia 36, Autosomal Dominant
Spastic Paraplegia 55, Autosomal Recessive Spastic Paraplegia 24, Autosomal Recessive
Spastic Paraplegia 3a, Autosomal Dominant Spastic Paraplegia 52, Autosomal Recessive
Spastic Paraplegia 32, Autosomal Recessive Spastic Paraplegia 28, Autosomal Recessive
Spastic Paraplegia 15, Autosomal Recessive Spastic Paraplegia 49, Autosomal Recessive
Spastic Paraplegia 6, Autosomal Dominant Spastic Paraplegia 11, Autosomal Recessive
Spastic Paraplegia 51, Autosomal Recessive Spastic Paraplegia 61, Autosomal Recessive
Spastic Paraplegia 35, Autosomal Recessive Spastic Paraplegia 7, Autosomal Recessive
Spastic Paraplegia 39, Autosomal Recessive Spastic Paraplegia 43, Autosomal Recessive
Spastic Paraplegia 75, Autosomal Recessive Spastic Paraplegia 12, Autosomal Dominant
Spastic Paraplegia 73, Autosomal Dominant Hereditary Spastic Paraplegia
Hereditary Spastic Paraplegia 3a Hereditary Spastic Paraplegia 51
Hereditary Spastic Paraplegia 62 Hereditary Spastic Paraplegia 72
Spastic Paraplegia 4 Spastic Paraplegia 8
Spastic Paraplegia 11 Spastic Paraplegia 1
Spastic Paraplegia 10 Spastic Paraplegia 12
Spastic Paraplegia 13 Spastic Paraplegia 14
Spastic Paraplegia 15 Spastic Paraplegia 16
Spastic Paraplegia 17 Spastic Paraplegia 18
Spastic Paraplegia 19 Spastic Paraplegia 24
Spastic Paraplegia 25 Spastic Paraplegia 26
Spastic Paraplegia 29 Spastic Paraplegia 3
Spastic Paraplegia 31 Spastic Paraplegia 32
Spastic Paraplegia 39 Spastic Paraplegia 51
Spastic Paraplegia 5a Spastic Paraplegia 5b
Spastic Paraplegia 6 Spastic Paraplegia 9
Spastic Paraplegia 28 Spastic Paraplegia 30
Spastic Paraplegia 33 Spastic Paraplegia 35
Spastic Paraplegia 42 Spastic Paraplegia 43
Spastic Paraplegia 45 Spastic Paraplegia 46
Spastic Paraplegia 47 Spastic Paraplegia 48
Spastic Paraplegia 49 Spastic Paraplegia 50
Spastic Paraplegia 52 Spastic Paraplegia 53
Spastic Paraplegia 54 Spastic Paraplegia 55
Spastic Paraplegia 56 Spastic Paraplegia 57
Spastic Paraplegia 59 Spastic Paraplegia 61
Spastic Paraplegia 64 Spastic Paraplegia 66
Spastic Paraplegia 72 Spastic Paraplegia 75
Spastic Paraplegia 76 Spastic Paraplegia 44
Autosomal Recessive Spastic Paraplegia Type 60 Autosomal Recessive Spastic Paraplegia Type 59
Autosomal Recessive Spastic Paraplegia Type 68 Autosomal Recessive Spastic Paraplegia Type 69
Autosomal Recessive Spastic Paraplegia Type 70 Autosomal Recessive Spastic Paraplegia Type 71
Autosomal Recessive Spastic Paraplegia Type 66 Autosomal Recessive Spastic Paraplegia Type 67

Diseases related to Spastic Paraplegia 4 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 spastic paraplegia 4, autosomal dominant 12.3
2 paraplegia 9.8
3 spasticity 9.8

Symptoms & Phenotypes for Spastic Paraplegia 4

UMLS symptoms related to Spastic Paraplegia 4:


low back pain, agitation, abnormal pyramidal signs, lower limb muscle weakness

Drugs & Therapeutics for Spastic Paraplegia 4

Drugs for Spastic Paraplegia 4 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 12)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved Phase 2 51-84-3 187
2 abobotulinumtoxinA Phase 2
3 Botulinum Toxins Phase 2
4 Botulinum Toxins, Type A Phase 2
5 Cholinergic Agents Phase 2
6 Hemagglutinins Phase 2
7 incobotulinumtoxinA Phase 2
8 Neuromuscular Agents Phase 2
9 Neurotransmitter Agents Phase 2
10 onabotulinumtoxinA Phase 2
11 Peripheral Nervous System Agents Phase 2
12 Pharmaceutical Solutions Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Treatment With Xeomin Versus Botox in Children With Spastic Equine and Equinovarus Foot Deformation in Pediatric Cerebral Palsy Completed NCT02188277 Phase 2 Xeomin;Botox®
2 Cohorts and Collections: Clinical and Genetic Study of Parkinson's Disease and Epilepsies Terminated NCT00142363 Phase 1
3 Disease Natural History and Biomarkers of SPG3A, SPG4A, and SPG31 Recruiting NCT02859428
4 The Pre-SPG4 Study Recruiting NCT03206190
5 Studying Cognition in SPG4 Recruiting NCT03104088
6 Genetic and Physical Study of Childhood Nerve and Muscle Disorders Recruiting NCT01568658
7 Studying Non-motor Symptoms in SPG4 Not yet recruiting NCT03204773

Search NIH Clinical Center for Spastic Paraplegia 4

Genetic Tests for Spastic Paraplegia 4

Genetic tests related to Spastic Paraplegia 4:

id Genetic test Affiliating Genes
1 Spastic Paraplegia 4 24 SPAST

Anatomical Context for Spastic Paraplegia 4

Publications for Spastic Paraplegia 4

Articles related to Spastic Paraplegia 4:

id Title Authors Year
1
Spastic Paraplegia 4 ( 20301339 )
1993

Variations for Spastic Paraplegia 4

ClinVar genetic disease variations for Spastic Paraplegia 4:

6 (show top 50) (show all 89)
id Gene Variation Type Significance SNP ID Assembly Location
1 SPAST NM_014946.3(SPAST): c.1085C> G (p.Ser362Cys) single nucleotide variant Pathogenic rs121908509 GRCh37 Chromosome 2, 32341268: 32341268
2 SPAST NM_014946.3(SPAST): c.1343G> A (p.Cys448Tyr) single nucleotide variant Pathogenic rs121908510 GRCh37 Chromosome 2, 32361967: 32361967
3 SPAST NM_014946.3(SPAST): c.1395delT (p.Leu466Terfs) deletion Pathogenic rs587777751 GRCh38 Chromosome 2, 32136950: 32136950
4 SPAST NM_014946.3(SPAST): c.1495C> T (p.Arg499Cys) single nucleotide variant Pathogenic rs121908511 GRCh37 Chromosome 2, 32366974: 32366974
5 SPAST NM_014946.3(SPAST): c.1688-2A> G single nucleotide variant Pathogenic rs587777752 GRCh38 Chromosome 2, 32147216: 32147216
6 SPAST SPAST, LYS229TER single nucleotide variant Pathogenic
7 SPAST NM_014946.3(SPAST): c.453dupA (p.Gly152Argfs) duplication Pathogenic rs587777753 GRCh38 Chromosome 2, 32087529: 32087529
8 SPAST NM_014946.3(SPAST): c.1322A> G (p.Asp441Gly) single nucleotide variant Pathogenic rs121908512 GRCh37 Chromosome 2, 32361946: 32361946
9 SPAST NM_014946.3(SPAST): c.1728+1G> C single nucleotide variant Pathogenic rs587777754 GRCh38 Chromosome 2, 32147259: 32147259
10 SPAST NM_014946.3(SPAST): c.1245+4A> G single nucleotide variant Pathogenic rs587777755 GRCh38 Chromosome 2, 32128483: 32128483
11 SPAST NM_014946.3(SPAST): c.1413+2dupT duplication Pathogenic rs587777756 GRCh38 Chromosome 2, 32136970: 32136970
12 SPAST NM_014946.3(SPAST): c.1031T> A (p.Ile344Lys) single nucleotide variant Pathogenic rs121908513 GRCh37 Chromosome 2, 32341214: 32341214
13 SPAST NM_014946.3(SPAST): c.1157A> G (p.Asn386Ser) single nucleotide variant Pathogenic rs121908514 GRCh37 Chromosome 2, 32352075: 32352075
14 SPAST NM_014946.3(SPAST): c.1409A> T (p.Asp470Val) single nucleotide variant Pathogenic rs121908516 GRCh37 Chromosome 2, 32362033: 32362033
15 SPAST NM_014946.3(SPAST): c.1684C> G (p.Arg562Gly) single nucleotide variant Pathogenic rs121908518 GRCh37 Chromosome 2, 32370073: 32370073
16 SPAST NM_014946.3(SPAST): c.-112_415+1779del deletion Pathogenic GRCh38 Chromosome 2, 32063720: 32066025
17 SPAST NM_014946.3(SPAST): c.1216A> G (p.Ile406Val) single nucleotide variant Pathogenic/Likely pathogenic rs587777757 GRCh38 Chromosome 2, 32128450: 32128450
18 SPAST NM_014946.3(SPAST): c.1335C> A (p.Ser445Arg) single nucleotide variant Pathogenic rs121908519 GRCh37 Chromosome 2, 32361959: 32361959
19 SPAST NG_008730.1: g.75057_79101dup4045 duplication Pathogenic GRCh38 Chromosome 2, 32133667: 32137711
20 SPAST NM_014946.3(SPAST): c.1165A> G (p.Thr389Ala) single nucleotide variant Pathogenic rs786204132 GRCh37 Chromosome 2, 32352083: 32352083
21 SPAST NM_014946.3(SPAST): c.1291C> T (p.Arg431Ter) single nucleotide variant Pathogenic rs786204126 GRCh37 Chromosome 2, 32361677: 32361677
22 SPAST NM_014946.3(SPAST): c.1414-1G> C single nucleotide variant Pathogenic rs786204163 GRCh37 Chromosome 2, 32362177: 32362177
23 SPAST NM_014946.3(SPAST): c.1168A> G (p.Met390Val) single nucleotide variant Pathogenic rs797044850 GRCh37 Chromosome 2, 32352086: 32352086
24 SPAST NM_014946.3(SPAST): c.464delA (p.Glu155Aspfs) deletion Pathogenic rs863224514 GRCh37 Chromosome 2, 32312609: 32312609
25 SPAST NM_014946.3(SPAST): c.925delC (p.Arg309Valfs) deletion Pathogenic rs863224515 GRCh38 Chromosome 2, 32115756: 32115756
26 SPAST NM_014946.3(SPAST): c.1245delC (p.Tyr415Terfs) deletion Pathogenic rs863224513 GRCh38 Chromosome 2, 32128479: 32128479
27 SPAST NM_014946.3(SPAST): c.1417C> T (p.Gln473Ter) single nucleotide variant Pathogenic rs757130394 GRCh37 Chromosome 2, 32362181: 32362181
28 SPAST NM_014946.3(SPAST): c.1685G> A (p.Arg562Gln) single nucleotide variant Pathogenic rs863224923 GRCh37 Chromosome 2, 32370074: 32370074
29 SPAST NC_000002.11: g.32373679_32384445del10767 deletion Pathogenic GRCh37 Chromosome 2, 32373679: 32384445
30 SPAST NC_000002.11: g.32372792_32389594del16803 deletion Pathogenic GRCh37 Chromosome 2, 32372792: 32389594
31 SPAST NC_000002.11: g.32378898_32384398del5501 deletion Pathogenic GRCh37 Chromosome 2, 32378898: 32384398
32 SPAST NC_000002.11: g.32374427_32388831del14405 deletion Pathogenic GRCh37 Chromosome 2, 32374427: 32388831
33 SLC30A6; SPAST NC_000002.11: g.32378643_32403264del24622 deletion Pathogenic GRCh37 Chromosome 2, 32378643: 32403264
34 SPAST NC_000002.11: g.32378559_32381280del2722 deletion Pathogenic GRCh37 Chromosome 2, 32378559: 32381280
35 SLC30A6; SPAST NC_000002.11: g.32378673_32397052del18380 deletion Pathogenic GRCh37 Chromosome 2, 32378673: 32397052
36 SLC30A6; SPAST NC_000002.11: g.32372815_32398557del25743 deletion Pathogenic GRCh37 Chromosome 2, 32372815: 32398557
37 SPAST NC_000002.11: g.32365580_32371821dup6242 duplication Pathogenic GRCh37 Chromosome 2, 32365580: 32371821
38 BIRC6; NLRC4; SLC30A6; SPAST; TTC27; YIPF4 NC_000002.11: g.32327163_32886455del559293 deletion Pathogenic GRCh37 Chromosome 2, 32327163: 32886455
39 DPY30; SPAST NC_000002.11: g.32260443_32347688del87246 deletion Pathogenic GRCh37 Chromosome 2, 32260443: 32347688
40 SPAST NC_000002.11: g.32329723_32373142del43420 deletion Pathogenic GRCh37 Chromosome 2, 32329723: 32373142
41 BIRC6; NLRC4; SLC30A6; SPAST; YIPF4 NC_000002.11: g.32362824_32817794del454971 deletion Pathogenic GRCh37 Chromosome 2, 32362824: 32817794
42 SLC30A6; SPAST NC_000002.11: g.32313171_32408919del95749 deletion Pathogenic GRCh37 Chromosome 2, 32313171: 32408919
43 SLC30A6; SPAST NC_000002.11: g.32342697_32403350del60654 deletion Pathogenic GRCh37 Chromosome 2, 32342697: 32403350
44 SPAST NC_000002.11: g.32282852_32295403del12552 deletion Pathogenic GRCh37 Chromosome 2, 32282852: 32295403
45 NLRC4; SLC30A6; SPAST NC_000002.11: g.32302047_32472162del170116 deletion Pathogenic GRCh37 Chromosome 2, 32302047: 32472162
46 SPAST NC_000002.11: g.32356943_32372914del15972 deletion Pathogenic GRCh37 Chromosome 2, 32356943: 32372914
47 SPAST NC_000002.11: g.32302137_32351058del48922 deletion Pathogenic GRCh37 Chromosome 2, 32302137: 32351058
48 SPAST NC_000002.11: g.32340402_32345422del5021 deletion Pathogenic GRCh37 Chromosome 2, 32340402: 32345422
49 SPAST NC_000002.11: g.32371908_32373867del1960 deletion Pathogenic GRCh37 Chromosome 2, 32371908: 32373867
50 SPAST NC_000002.11: g.32353207_32359908dup6702 duplication Pathogenic GRCh37 Chromosome 2, 32353207: 32359908

Expression for Spastic Paraplegia 4

Search GEO for disease gene expression data for Spastic Paraplegia 4.

Pathways for Spastic Paraplegia 4

GO Terms for Spastic Paraplegia 4

Sources for Spastic Paraplegia 4

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7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
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33 ICD10
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37 KEGG
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42 MeSH
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65 SNOMED-CT via HPO
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67 TGDB
68 Tocris
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70 UMLS via Orphanet
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