MCID: SPS019
MIFTS: 35

Spastic Paraparesis

Categories: Rare diseases

Aliases & Classifications for Spastic Paraparesis

MalaCards integrated aliases for Spastic Paraparesis:

Name: Spastic Paraparesis 53 29 6

Classifications:



Summaries for Spastic Paraparesis

MalaCards based summary : Spastic Paraparesis is related to spastic paraplegia 35, autosomal recessive and hereditary spastic paraplegia. An important gene associated with Spastic Paraparesis is SPAST (Spastin). The drugs Miconazole and Valproic Acid have been mentioned in the context of this disorder. Affiliated tissues include t cells, spinal cord and brain.

Related Diseases for Spastic Paraparesis

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

(show top 50) (show all 186)
# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 35, autosomal recessive 33.3 FA2H SPG11
2 hereditary spastic paraplegia 32.4 ALDH18A1 DDHD1 FA2H L1CAM SPAST SPG11
3 spastic paraplegia 15, autosomal recessive 31.9 FA2H SPG11 SPG7 TECPR2
4 spastic paraplegia 3, autosomal dominant 31.9 SPAST SPG11
5 masa syndrome 31.6 L1CAM SPAST SPG11
6 spasticity 30.1 DDHD1 SPAST SPG7 TECPR2
7 spastic paraplegia 4, autosomal dominant 30.0 SPAST SPG11 SPG7
8 paraplegia 29.6 DDHD1 FA2H L1CAM SPAST SPG11 SPG7
9 tropical spastic paraparesis 12.8
10 htlv-1 associated myelopathy/tropical spastic paraparesis 12.6
11 myelopathy, htlv-1-associated 12.4
12 spastic paraparesis and deafness 12.4
13 branchial myoclonus with spastic paraparesis and cerebellar ataxia 12.3
14 wells-jankovic syndrome 12.0
15 spastic paraplegia 20, autosomal recessive 12.0
16 spastic paraplegia 2, x-linked 11.7
17 spastic paraplegia 9 11.6
18 alzheimer disease 3 11.6
19 spastic paraplegia 9a, autosomal dominant 11.5
20 human t-cell leukemia virus type 1 11.5
21 spastic paraplegia 23 11.5
22 retrovirus-associated myelopathy 11.4
23 autosomal dominant spastic paraplegia type 9 11.2
24 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 11.1
25 krabbe disease 11.1
26 mast syndrome 11.1
27 sjogren-larsson syndrome 11.1
28 spastic ataxia 4, autosomal recessive 11.1
29 spastic paraplegia 53, autosomal recessive 11.1
30 peroxisome biogenesis disorder 10b 11.1
31 mthfr gene variant 11.1
32 pelizaeus-merzbacher-like disease 11.1
33 familial spastic paralysis 11.1
34 t-cell leukemia 10.7
35 leukemia 10.7
36 alzheimer disease 10.6
37 neuropathy 10.5
38 multiple sclerosis 10.5
39 adult t-cell leukemia 10.5
40 dermatitis 10.4
41 peripheral nervous system disease 10.4
42 dementia 10.3
43 adrenomyeloneuropathy 10.3
44 adrenoleukodystrophy 10.3
45 lateral sclerosis 10.3
46 aceruloplasminemia 10.2
47 spastic paraplegia 31, autosomal dominant 10.2 SPAST SPG11
48 primary lateral sclerosis, adult, 1 10.2 SPAST SPG7
49 spastic paraplegia 32, autosomal recessive 10.2 SPG11 SPG7
50 spastic paraplegia 52, autosomal recessive 10.2 DDHD1 VPS37A

Graphical network of the top 20 diseases related to Spastic Paraparesis:



Diseases related to Spastic Paraparesis

Symptoms & Phenotypes for Spastic Paraparesis

Drugs & Therapeutics for Spastic Paraparesis

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

(show top 50) (show all 67)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3 22916-47-8 4189
2
Valproic Acid Approved, Investigational Phase 3 99-66-1 3121
3
Pentoxifylline Approved, Investigational Phase 3 6493-05-6 4740
4 Immunosuppressive Agents Phase 2, Phase 3
5 Anti-Infective Agents Phase 2, Phase 3,Early Phase 1
6 Calcineurin Inhibitors Phase 2, Phase 3
7 Antifungal Agents Phase 2, Phase 3
8 Immunologic Factors Phase 2, Phase 3
9 Dermatologic Agents Phase 2, Phase 3
10 Cyclosporins Phase 2, Phase 3
11 Antirheumatic Agents Phase 2, Phase 3
12 Psychotropic Drugs Phase 3
13 GABA Agents Phase 3
14 Central Nervous System Depressants Phase 3
15 Antimanic Agents Phase 3
16 Anticonvulsants Phase 3
17 Tranquilizing Agents Phase 3
18 Neurotransmitter Agents Phase 3
19 Vasodilator Agents Phase 3
20 Phosphodiesterase Inhibitors Phase 3
21 Free Radical Scavengers Phase 3,Phase 2
22 Radiation-Protective Agents Phase 3
23 Protective Agents Phase 3,Phase 2
24 Platelet Aggregation Inhibitors Phase 3
25 Antioxidants Phase 3,Phase 2
26
Interferon beta-1a Approved, Investigational Phase 2 145258-61-3 6438354
27
Tocopherol Approved, Investigational Phase 2 1406-66-2 14986
28
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
29
Infliximab Approved Phase 2 170277-31-3
30
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
31
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
32 Tocotrienol Investigational Phase 2 6829-55-6
33 Antiviral Agents Phase 2,Early Phase 1
34 Interferon-beta Phase 2
35 interferons Phase 2
36 Adjuvants, Immunologic Phase 2
37 Expectorants Phase 2
38 Vitamin B Complex Phase 2
39 Micronutrients Phase 2
40 Vitamin B9 Phase 2
41 Thioctic Acid Phase 2
42 Tocotrienols Phase 2
43 N-monoacetylcystine Phase 2
44 Alpha-lipoic Acid Phase 2
45 Folate Phase 2
46 Respiratory System Agents Phase 2
47 Vitamins Phase 2
48 Trace Elements Phase 2
49 Tocopherols Phase 2
50 Antidotes Phase 2

Interventional clinical trials:

(show all 21)
# Name Status NCT ID Phase Drugs
1 MP Diagnostics HTLV Blot 2.4 Post-Market Clinical Study Completed NCT03226119 Phase 4
2 Efficacy and Safety of Tamibarotene(AM80H) for HTLV-1 Associated Myelopathy/ Tropical Spastic Paraparesis (HAM/TSP) Unknown status NCT01343355 Phase 2, Phase 3 Tamibarotene
3 Ciclosporin in HTLV-1 Associated Myelopathy/ Tropical Spastic Paraparesis (HAM/TSP) Completed NCT00773292 Phase 2, Phase 3 ciclosporin
4 Use Of Valproid Acid To Treat Tropical Spastic Paraparesis/HTLV-1-Associated Myelopathy (TSP/HAM) Completed NCT00681980 Phase 3 Valproic acid;costicosteroids;valproid acid plus corticosteroids
5 Use of Pentoxifylline in Human T-lymphotropic Virus Type-1 (HTLV-1) Diseases Completed NCT01472263 Phase 3 Pentoxifylline;Placebo
6 Recombinant Human Interferon Beta-1a (Avonex) for the Treatment of Patients With HTLV-1-Associated Myelopathy (HAM) Completed NCT00001785 Phase 2 Recombinant human interferon beta-1a
7 A Clinical Trial for AMN: Validation of Biomarkers of Oxidative Stress, Efficacy and Safety of a Mixture of Antioxidants Completed NCT01495260 Phase 2 N-acetylcysteine;lipoic acid;vitamin E
8 The HAM Infliximab Study Terminated NCT00823641 Phase 2 Infliximab
9 Hu Mik-Beta-1 to Treat HTLV-1-Associated Myelopathy/Tropical Spastic Paraparesis Completed NCT00076843 Phase 1 Hu MiK-Beta-1
10 MRI Brain Studies in Patients With HTLV-1 Associated Myelopathy/Tropical Spastic Paraparesis Completed NCT00034723
11 A Study of Familial and Genetic Aspects of Adult T-Cell: Leukemia/Lymphoma , Tropical Spastic Paraparesis, and Infective Dermatitis Completed NCT00340821
12 Raltegravir for HAM/TSP Completed NCT01867320 Early Phase 1 Raltegravir
13 Urological Physical Therapy in HTLV-1 With Urinary Symptoms Completed NCT01651819 Not Applicable
14 Influence of IL28B Genetic Variation on the Phenotype Infection of HTLV-1 Completed NCT01754311
15 Validation of Biomarkers in Amyotrophic Lateral Sclerosis (ALS) Completed NCT00677768
16 Assessment of Patients With Multiple Sclerosis (MS) Completed NCT00001156
17 Physiologic Studies of Spasticity Completed NCT00014976
18 Nuclear Magnetic Spectroscopy Imaging to Evaluate Primary Lateral Sclerosis, Hereditary Spastic Paraplegia and Amyotrophic Lateral Sclerosis Completed NCT00023075
19 Effect of Raltegravir in Patients With Acute Tropical Spastic Paraparesis - Human T-Lymphotropic Virus 1 Infection Recruiting NCT02655471 Early Phase 1 "Raltegravir" and "Zidovudine"
20 Evaluation of Patients With HAM/TSP Recruiting NCT00001778
21 The Prevalence of CTX Disorder in Juvenile Cataract Cases in Turkey Recruiting NCT03584893

Search NIH Clinical Center for Spastic Paraparesis

Genetic Tests for Spastic Paraparesis

Genetic tests related to Spastic Paraparesis:

# Genetic test Affiliating Genes
1 Spastic Paraparesis 29

Anatomical Context for Spastic Paraparesis

MalaCards organs/tissues related to Spastic Paraparesis:

41
T Cells, Spinal Cord, Brain, Testes, Thyroid, Nk Cells, Prostate

Publications for Spastic Paraparesis

Articles related to Spastic Paraparesis:

(show top 50) (show all 791)
# Title Authors Year
1
Autosomal-dominant early-onset spastic paraparesis with brain calcification due to IFIH1 gain-of-function. ( 29782060 )
2018
2
Expanding the <i>ADCY5</i> phenotype toward spastic paraparesis: A mutation in the M2 domain. ( 29473048 )
2018
3
Gastrointestinal and urinary complaints in adults with hereditary spastic paraparesis. ( 29661209 )
2018
4
Study of Knowledge, Attitude, and Practice in Participants with Regular Intake of Lathyrus, But No Spastic Paraparesis. ( 29456338 )
2018
5
Balance, functional mobility, and fall occurrence in patients with human T-cell lymphotropic virus type-1-associated myelopathy/tropical spastic paraparesis: a cross-sectional study. ( 29768548 )
2018
6
Spastic paraparesis caused by X-linked adrenoleukodystrophy mimicking vacuolar myelopathy in a human immunodeficiency virus patient: A case report. ( 29768358 )
2018
7
Role of Integrin Signaling Activation on the Development of Human T-Cell Leukemia VIrus-1 (HTLV-1)-Associated Myelopathy/Tropical Spastic Paraparesis: Its Relationship to HTLV-1-infected CD4+ T Cell Transmigrating Activity into the Tissues. ( 29400072 )
2018
8
Temporal trends in Human T-Lymphotropic virus 1 (HTLV-1) associated myelopathy/tropical spastic paraparesis (HAM/TSP) incidence in Martinique over 25 years (1986-2010). ( 29554087 )
2018
9
Spastic paraparesis and sensorineural hearing loss: keep brucellosis in mind. ( 29406895 )
2018
10
Spastic paraparesis with basal ganglia changes: Infantile neuroaxonal dystrophy. ( 29323006 )
2018
11
Early Juvenile HTLV-1-associated Myelopathy/Tropical Spastic Paraparesis (HAM/TSP): Study of 25 Patients. ( 29912303 )
2018
12
Spastic paraparesis revealing celiac disease. ( 29562387 )
2018
13
Prosultiamine for treatment of lower urinary tract dysfunction accompanied by human T-lymphotropic virus type 1-associated myelopathy/tropical spastic paraparesis. ( 28965354 )
2018
14
Proposal of Classification Criteria for HTLV-1-Associated Myelopathy/Tropical Spastic Paraparesis Disease Activity. ( 30090093 )
2018
15
Different roles of CXCR1 and CXCR2 in HTLV-1 carriers and HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP) patients. ( 30341468 )
2018
16
Spastic paraparesis as the first manifestation of Machado-Joseph disease: A case report and review of the literature. ( 30007589 )
2018
17
Potential oligogenic disease of mental retardation, short stature, spastic paraparesis, and osteopetrosis. ( 30510438 )
2018
18
Idiopathic retroperitoneal fibrosis presenting as spastic paraparesis. ( 30233024 )
2018
19
Three novel mutations in 20 patients with hereditary spastic paraparesis. ( 29907907 )
2018
20
Interferon Lambda Family along with HTLV-1 Proviral Load, Tax, and HBZ Implicated in the Pathogenesis of Myelopathy/Tropical Spastic Paraparesis. ( 29990995 )
2018
21
Hirayama disease/cervical flexion-induced myelopathy progressing to spastic paraparesis: A report on three cases with literature review. ( 30038100 )
2018
22
Human T-Lymphotropic Virus-1-Associated Myelopathy/Tropical Spastic Paraparesis Is Associated With Sexual Dysfunction in Infected Women of Reproductive Age. ( 30181035 )
2018
23
Hereditary and idiopathic spastic paraparesis: preliminary findings of a single center experience. ( 30352018 )
2018
24
Lack of association between single-nucleotide polymorphisms of pro- and anti-inflammatory cytokines and HTLV-1-associated myelopathy / tropical spastic paraparesis development in patients from Rio de Janeiro, Brazil. ( 30466392 )
2018
25
Novel c.C2254T (p.Q752*) mutation in ZFYVE26 (SPG15) gene in a patient with hereditary spastic paraparesis. ( 30555096 )
2018
26
Role of IL-21 in HTLV-1 infections with emphasis on HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP). ( 28378248 )
2017
27
Modulatory effects of curcumin on apoptosis and cytotoxicity-related molecules in HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP) patients. ( 27894665 )
2017
28
Effectiveness of Daily Prednisolone to Slow Progression of Human T-Lymphotropic Virus Type 1-Associated Myelopathy/Tropical Spastic Paraparesis: A Multicenter Retrospective Cohort Study. ( 28536850 )
2017
29
Effects of host restriction factors and the HTLV-1 subtype on susceptibility to HTLV-1-associated myelopathy/tropical spastic paraparesis. ( 28420387 )
2017
30
Increased lower limb muscle coactivation reduces gait performance and increases metabolic cost in patients with hereditary spastic paraparesis. ( 28779695 )
2017
31
Evaluation of T Regulatory Lymphocytes Transcription Factors in HTLV-1-Associated Myelopathy/Tropical Spastic Paraparesis (HAM/TSP) Patients. ( 28101786 )
2017
32
Clinical and laboratory features of HTLV-I asymptomatic carriers and patients with HTLV-I-associated myelopathy/tropical spastic paraparesis from the Brazilian Amazon. ( 28380116 )
2017
33
Indigenous tropical spastic paraparesis in Madrid (Spain). Experience on screening of human T-lymphotropic virus. ( 26282070 )
2017
34
Effects of superficial heating and insulation on walking speed in people with hereditary and spontaneous spastic paraparesis: A randomised crossover study. ( 29241713 )
2017
35
Multiple spotty lesions of the spinal cord in a Chinese patient with human T-lymphotropic virus type 1-associated myelopathy/tropical spastic paraparesis. ( 29292042 )
2017
36
Novel c.775_781dup,p(Thr261fs) mutation in SPG 7 gene in a patient with hereditary spastic paraparesis. ( 28879915 )
2017
37
Case series of autosomal recessive hereditary spastic paraparesis with novel mutation in SPG 7 gene. ( 29057857 )
2017
38
<i>TRMT5</i> mutations are associated with features of complex hereditary spastic paraparesis. ( 29021354 )
2017
39
The CC chemokine ligand (CCL) 1, upregulated by the viral transactivator Tax, can be downregulated by minocycline: possible implications for long-term treatment of HTLV-1-associated myelopathy/tropical spastic paraparesis. ( 29202792 )
2017
40
Early Onset of HTLV-1 Associated Myelopathy/Tropical Spastic Paraparesis (HAM/TSP) and Adult T-cell Leukemia/Lymphoma (ATL): Systematic Search and Review. ( 28582585 )
2017
41
Oculodentodigital Dysplasia Presenting as Spastic Paraparesis: The First Genetically Confirmed Korean Case and a Literature Review. ( 28950687 )
2017
42
IL17A Polymorphism Is Not Associated with Human T-Lymphotropic Virus 1-Associated Myelopathy/Tropical Spastic Paraparesis. ( 28410448 )
2017
43
Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) with a novel DARS2 mutation and isolated progressive spastic paraparesis. ( 28017220 )
2017
44
Cytoplasmic Localization of HTLV-1 HBZ Protein: A Biomarker of HTLV-1-Associated Myelopathy/Tropical Spastic Paraparesis (HAM/TSP). ( 28095504 )
2017
45
Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23. ( 28157540 )
2017
46
The novel PSEN1 M84V mutation associated to frontal dysexecutive syndrome, spastic paraparesis, and cerebellar atrophy in a dominant Alzheimer's disease family. ( 28532646 )
2017
47
Adrenomyeloneuropathy due to mutation in the ABCD1 gene as underlying factor in spastic paraparesis. ( 29243459 )
2017
48
Serial Casting as an Adjunct to Botulinum Toxin Type A Treatment in Children With Cerebral Palsy and Spastic Paraparesis With Scissoring of the Lower Extremities. ( 28393669 )
2017
49
Mediators Go Together: High Production of CXCL9, CXCL10, IFN-γ, and TNF-α in HTLV-1-Associated Myelopathy/Tropical Spastic Paraparesis. ( 28648091 )
2017
50
The effect of HTLV-1 virulence factors (HBZ, Tax, proviral load), HLA class I and plasma neopterin on manifestation of HTLV-1 associated myelopathy tropical spastic paraparesis. ( 27845163 )
2017

Variations for Spastic Paraparesis

ClinVar genetic disease variations for Spastic Paraparesis:

6 (show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 AAAS NM_015665.5(AAAS): c.787T> C (p.Ser263Pro) single nucleotide variant Pathogenic/Likely pathogenic rs121918550 GRCh37 Chromosome 12, 53703408: 53703408
2 AAAS NM_015665.5(AAAS): c.787T> C (p.Ser263Pro) single nucleotide variant Pathogenic/Likely pathogenic rs121918550 GRCh38 Chromosome 12, 53309624: 53309624
3 SPAST NM_014946.3(SPAST): c.1495C> T (p.Arg499Cys) single nucleotide variant Pathogenic rs121908511 GRCh37 Chromosome 2, 32366974: 32366974
4 SPAST NM_014946.3(SPAST): c.1495C> T (p.Arg499Cys) single nucleotide variant Pathogenic rs121908511 GRCh38 Chromosome 2, 32141905: 32141905
5 SPG7 NM_003119.3(SPG7): c.1529C> T (p.Ala510Val) single nucleotide variant Conflicting interpretations of pathogenicity rs61755320 GRCh37 Chromosome 16, 89613145: 89613145
6 SPG7 NM_003119.3(SPG7): c.1529C> T (p.Ala510Val) single nucleotide variant Conflicting interpretations of pathogenicity rs61755320 GRCh38 Chromosome 16, 89546737: 89546737
7 SPAST NM_014946.3(SPAST): c.1670C> G (p.Ala557Gly) single nucleotide variant Likely pathogenic rs1057518873 GRCh38 Chromosome 2, 32144990: 32144990
8 SPAST NM_014946.3(SPAST): c.1670C> G (p.Ala557Gly) single nucleotide variant Likely pathogenic rs1057518873 GRCh37 Chromosome 2, 32370059: 32370059
9 SPG11 NM_025137.3(SPG11): c.5381T> C (p.Leu1794Pro) single nucleotide variant Likely pathogenic rs201689565 GRCh37 Chromosome 15, 44876497: 44876497
10 SPG11 NM_025137.3(SPG11): c.5381T> C (p.Leu1794Pro) single nucleotide variant Likely pathogenic rs201689565 GRCh38 Chromosome 15, 44584299: 44584299
11 SPG11 NM_025137.3(SPG11): c.3785G> T (p.Gly1262Val) single nucleotide variant Likely pathogenic rs1057518874 GRCh38 Chromosome 15, 44598738: 44598738
12 SPG11 NM_025137.3(SPG11): c.3785G> T (p.Gly1262Val) single nucleotide variant Likely pathogenic rs1057518874 GRCh37 Chromosome 15, 44890936: 44890936
13 CACNA1A NM_023035.2(CACNA1A): c.574C> T (p.Arg192Trp) single nucleotide variant Likely pathogenic rs1057518779 GRCh37 Chromosome 19, 13482559: 13482559
14 CACNA1A NM_023035.2(CACNA1A): c.574C> T (p.Arg192Trp) single nucleotide variant Likely pathogenic rs1057518779 GRCh38 Chromosome 19, 13371745: 13371745
15 SPG7 NM_003119.3(SPG7): c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del) deletion Conflicting interpretations of pathogenicity rs768823392 GRCh38 Chromosome 16, 89546662: 89546670
16 SPG7 NM_003119.3(SPG7): c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del) deletion Conflicting interpretations of pathogenicity rs768823392 GRCh37 Chromosome 16, 89613070: 89613078

Expression for Spastic Paraparesis

Search GEO for disease gene expression data for Spastic Paraparesis.

Pathways for Spastic Paraparesis

GO Terms for Spastic Paraparesis

Cellular components related to Spastic Paraparesis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear membrane GO:0031965 9.33 AAAS PSEN1 SPAST
2 centrosome GO:0005813 9.26 AAAS PSEN1 SPAST VPS37A
3 mitochondrial inner membrane GO:0005743 8.92 ALDH18A1 PSEN1 SLC25A15 SPG7

Biological processes related to Spastic Paraparesis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 synapse organization GO:0050808 8.96 L1CAM PSEN1
2 anterograde axonal transport GO:0008089 8.62 SPAST SPG7

Sources for Spastic Paraparesis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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