MCID: SPS019
MIFTS: 34

Spastic Paraparesis

Categories: Rare diseases

Aliases & Classifications for Spastic Paraparesis

MalaCards integrated aliases for Spastic Paraparesis:

Name: Spastic Paraparesis 54 30 6

Classifications:



Summaries for Spastic Paraparesis

MalaCards based summary : Spastic Paraparesis is related to spastic paraplegia 35, autosomal recessive and spastic paraplegia 15, autosomal recessive. 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 211)
# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 35, autosomal recessive 33.7 FA2H SPG11
2 spastic paraplegia 15, autosomal recessive 32.4 FA2H SPG11 SPG7 TECPR2
3 spastic paraplegia 49, autosomal recessive 32.4 SPG11 SPG7 TECPR2
4 hereditary spastic paraplegia 32.1 ALDH18A1 DDHD1 FA2H L1CAM SPAST SPG11
5 spastic paraplegia 3, autosomal dominant 32.1 SPAST SPG11
6 masa syndrome 31.6 L1CAM SPAST SPG11
7 spastic paraplegia 4, autosomal dominant 30.6 SPAST SPG11 SPG7
8 spastic paraplegia 11, autosomal recessive 30.6 SPG11 SPG7
9 spasticity 30.1 DDHD1 SPAST SPG7 TECPR2
10 spastic ataxia 29.7 MTPAP SPG7
11 paraplegia 29.3 DDHD1 FA2H L1CAM SPAST SPG11 SPG7
12 tropical spastic paraparesis 12.8
13 htlv-1 associated myelopathy/tropical spastic paraparesis 12.6
14 myelopathy, htlv-1-associated 12.4
15 spastic paraparesis and deafness 12.4
16 branchial myoclonus with spastic paraparesis and cerebellar ataxia 12.3
17 wells-jankovic syndrome 12.1
18 spastic paraplegia 20, autosomal recessive 12.0
19 alzheimer disease 3 11.9
20 spastic paraplegia 2, x-linked 11.8
21 spastic paraplegia 23, autosomal recessive 11.8
22 spastic paraplegia 9 11.7
23 human t-cell leukemia virus type 1 11.6
24 spastic paraplegia 9a, autosomal dominant 11.6
25 spastic paraplegia 53, autosomal recessive 11.5
26 retrovirus-associated myelopathy 11.5
27 spastic ataxia 4, autosomal recessive 11.3
28 hereditary spastic paraplegia 23 11.2
29 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 11.2
30 krabbe disease 11.2
31 mast syndrome 11.2
32 sjogren-larsson syndrome 11.2
33 peroxisome biogenesis disorder 10b 11.2
34 mthfr gene variant 11.2
35 pelizaeus-merzbacher-like disease 11.2
36 familial spastic paralysis 11.2
37 leukemia 10.7
38 t-cell leukemia 10.7
39 alzheimer disease 10.6
40 neuropathy 10.5
41 multiple sclerosis 10.5
42 adult t-cell leukemia 10.5
43 dermatitis 10.4
44 lymphoma 10.4
45 peripheral nervous system disease 10.4
46 adrenomyeloneuropathy 10.4
47 ataxia and polyneuropathy, adult-onset 10.3
48 dementia 10.3
49 spastic paraplegia 4 10.3
50 spastic paraplegia 31, autosomal dominant 10.3 SPAST SPG11

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 70)
# 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 Dermatologic Agents Phase 2, Phase 3
5 Cyclosporins Phase 2, Phase 3
6 Antifungal Agents Phase 2, Phase 3
7 Immunologic Factors Phase 2, Phase 3
8 Calcineurin Inhibitors Phase 2, Phase 3
9 Immunosuppressive Agents Phase 2, Phase 3
10 Antirheumatic Agents Phase 2, Phase 3
11 Anti-Infective Agents Phase 2, Phase 3,Early Phase 1
12 Psychotropic Drugs Phase 3
13 GABA Agents Phase 3
14 Central Nervous System Depressants Phase 3
15 Neurotransmitter Agents Phase 3
16 Antimanic Agents Phase 3
17 Anticonvulsants Phase 3
18 Tranquilizing Agents Phase 3
19 Protective Agents Phase 3,Phase 2
20 Radiation-Protective Agents Phase 3
21 Free Radical Scavengers Phase 3,Phase 2
22 Antioxidants Phase 3,Phase 2
23 Vasodilator Agents Phase 3
24 Platelet Aggregation Inhibitors Phase 3
25 Phosphodiesterase Inhibitors Phase 3
26
Interferon beta-1a Approved, Investigational Phase 2 145258-61-3 6438354
27
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
28
Tocopherol Approved, Investigational Phase 2 1406-66-2 14986
29
Pioglitazone Approved, Investigational Phase 2 111025-46-8 4829
30
Infliximab Approved Phase 2 170277-31-3
31
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
32
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
33 Tocotrienol Investigational Phase 2 6829-55-6
34 Adjuvants, Immunologic Phase 2
35 Antiviral Agents Phase 2,Early Phase 1
36 interferons Phase 2
37 Interferon-beta Phase 2
38 Vitamins Phase 2
39 Trace Elements Phase 2
40 Vitamin B9 Phase 2
41 Antidotes Phase 2
42 Folate Phase 2
43 Tocopherols Phase 2
44 Tocotrienols Phase 2
45 Micronutrients Phase 2
46 Thioctic Acid Phase 2
47 Nutrients Phase 2
48 N-monoacetylcystine Phase 2
49 Alpha-lipoic Acid Phase 2
50 Vitamin B Complex Phase 2

Interventional clinical trials:

(show all 23)
# 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 Effect of Pioglitazone Administered to Patients With Adrenomyeloneuropathy Active, not recruiting NCT03864523 Phase 2 Pioglitazone
9 The HAM Infliximab Study Terminated NCT00823641 Phase 2 Infliximab
10 Hu Mik-Beta-1 to Treat HTLV-1-Associated Myelopathy/Tropical Spastic Paraparesis Completed NCT00076843 Phase 1 Hu MiK-Beta-1
11 Effect of Raltegravir in Patients With Acute Tropical Spastic Paraparesis - Human T-Lymphotropic Virus 1 Infection Completed NCT02655471 Early Phase 1 "Raltegravir" and "Zidovudine"
12 MRI Brain Studies in Patients With HTLV-1 Associated Myelopathy/Tropical Spastic Paraparesis Completed NCT00034723
13 A Study of Familial and Genetic Aspects of Adult T-Cell: Leukemia/Lymphoma , Tropical Spastic Paraparesis, and Infective Dermatitis Completed NCT00340821
14 Raltegravir for HAM/TSP Completed NCT01867320 Early Phase 1 Raltegravir
15 Urological Physical Therapy in HTLV-1 With Urinary Symptoms Completed NCT01651819 Not Applicable
16 Influence of IL28B Genetic Variation on the Phenotype Infection of HTLV-1 Completed NCT01754311
17 Validation of Biomarkers in Amyotrophic Lateral Sclerosis (ALS) Completed NCT00677768
18 Assessment of Patients With Multiple Sclerosis (MS) Completed NCT00001156
19 Physiologic Studies of Spasticity Completed NCT00014976
20 Nuclear Magnetic Spectroscopy Imaging to Evaluate Primary Lateral Sclerosis, Hereditary Spastic Paraplegia and Amyotrophic Lateral Sclerosis Completed NCT00023075
21 Evaluation of Patients With HAM/TSP Recruiting NCT00001778
22 Electromiography Study in the Respiratory Muscle Training in Human Lymphotropic Virus Type 1 Recruiting NCT03829709 Not Applicable
23 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 30

Anatomical Context for Spastic Paraparesis

MalaCards organs/tissues related to Spastic Paraparesis:

42
T Cells, Spinal Cord, Brain, Thyroid, Testes, B Cells, Nk Cells

Publications for Spastic Paraparesis

Articles related to Spastic Paraparesis:

(show top 50) (show all 806)
# Title Authors Year
1
"Intramedullary capillary hemangioma presenting with hydrocephalus and spastic paraparesis in a two-month-old infant". ( 30685376 )
2019
2
Curcumin increased the expression of c-FLIP in HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP) patients. ( 31074052 )
2019
3
Functional capacity of natural killer cells in HTLV-1 associated myelopathy/tropical spastic paraparesis (HAM/TSP) patients. ( 31101076 )
2019
4
Biallelic POLR3A variants confirmed as a frequent cause of hereditary ataxia and spastic paraparesis. ( 30847471 )
2019
5
Reply: Biallelic POLR3A variants confirmed as a frequent cause of hereditary ataxia and spastic paraparesis. ( 30847463 )
2019
6
Young adult-onset, very slowly progressive cognitive decline with spastic paraparesis in Alzheimer's disease with cotton wool plaques due to a novel presenilin1 G417S mutation. ( 30755281 )
2019
7
Postural stability during gait for adults with hereditary spastic paraparesis. ( 30862381 )
2019
8
Usefulness of exome sequencing in the study of spastic paraparesis and cerebellar atrophy: De novo mutation of the KIF1A gene, a new hope in prognosis. ( 30862385 )
2019
9
Reversible Spastic Paraparesis. ( 31007450 )
2019
10
Pain and Quality of Life in Human T-cell Lymphotropic Virus Type 1-Associated Myelopathy or Tropical Spastic Paraparesis After Home-Based Exercise Protocol: A Randomized Clinical Trial. ( 31038621 )
2019
11
Neuroimmunology of Human T-Lymphotropic Virus Type 1-Associated Myelopathy/Tropical Spastic Paraparesis. ( 31105674 )
2019
12
Spastic paraparesis caused by X-linked adrenoleukodystrophy mimicking vacuolar myelopathy in a human immunodeficiency virus patient: A case report. ( 29768358 )
2018
13
Early Onset of HTLV-1 Associated Myelopathy/Tropical Spastic Paraparesis (HAM/TSP) and Adult T-cell Leukemia/Lymphoma (ATL): Systematic Search and Review. ( 28582585 )
2018
14
Spastic paraparesis and sensorineural hearing loss: keep brucellosis in mind. ( 29406895 )
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
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
17
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
18
Proposal of Classification Criteria for HTLV-1-Associated Myelopathy/Tropical Spastic Paraparesis Disease Activity. ( 30090093 )
2018
19
Spastic paraparesis as the first manifestation of Machado-Joseph disease: A case report and review of the literature. ( 30007589 )
2018
20
Spastic paraparesis with basal ganglia changes: Infantile neuroaxonal dystrophy. ( 29323006 )
2018
21
Potential oligogenic disease of mental retardation, short stature, spastic paraparesis, and osteopetrosis. ( 30510438 )
2018
22
Idiopathic retroperitoneal fibrosis presenting as spastic paraparesis. ( 30233024 )
2018
23
CAPN1 mutations: Expanding the CAPN1-related phenotype: From hereditary spastic paraparesis to spastic ataxia. ( 30572172 )
2018
24
Prosultiamine for treatment of lower urinary tract dysfunction accompanied by human T-lymphotropic virus type 1-associated myelopathy/tropical spastic paraparesis. ( 28965354 )
2018
25
Effects of superficial heating and insulation on walking speed in people with hereditary and spontaneous spastic paraparesis: A randomised crossover study. ( 29241713 )
2018
26
Multiple spotty lesions of the spinal cord in a Chinese patient with human T-lymphotropic virus type 1-associated myelopathy/tropical spastic paraparesis. ( 29292042 )
2018
27
Study of Knowledge, Attitude, and Practice in Participants with Regular Intake of Lathyrus, But No Spastic Paraparesis. ( 29456338 )
2018
28
Expanding the ADCY5 phenotype toward spastic paraparesis: A mutation in the M2 domain. ( 29473048 )
2018
29
Spastic paraparesis revealing celiac disease. ( 29562387 )
2018
30
Gastrointestinal and urinary complaints in adults with hereditary spastic paraparesis. ( 29661209 )
2018
31
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
32
Autosomal-dominant early-onset spastic paraparesis with brain calcification due to IFIH1 gain-of-function. ( 29782060 )
2018
33
Three novel mutations in 20 patients with hereditary spastic paraparesis. ( 29907907 )
2018
34
Early Juvenile Human T-cell Lymphotropic Virus Type-1-Associated Myelopathy/Tropical Spastic Paraparesis: Study of 25 Patients. ( 29912303 )
2018
35
Interferon Lambda Family along with HTLV-1 Proviral Load, Tax, and HBZ Implicated in the Pathogenesis of Myelopathy/Tropical Spastic Paraparesis. ( 29990995 )
2018
36
Hirayama disease/cervical flexion-induced myelopathy progressing to spastic paraparesis: A report on three cases with literature review. ( 30038100 )
2018
37
Human T-Lymphotropic Virus-1-Associated Myelopathy/Tropical Spastic Paraparesis Is Associated With Sexual Dysfunction in Infected Women of Reproductive Age. ( 30181035 )
2018
38
Hereditary and idiopathic spastic paraparesis: preliminary findings of a single center experience. ( 30352018 )
2018
39
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
40
Novel c.C2254T (p.Q752*) mutation in ZFYVE26 (SPG15) gene in a patient with hereditary spastic paraparesis. ( 30555096 )
2018
41
Adrenomyeloneuropathy due to mutation in the ABCD1 gene as underlying factor in spastic paraparesis. ( 29243459 )
2017
42
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
43
Modulatory effects of curcumin on apoptosis and cytotoxicity-related molecules in HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP) patients. ( 27894665 )
2017
44
Cytoplasmic Localization of HTLV-1 HBZ Protein: A Biomarker of HTLV-1-Associated Myelopathy/Tropical Spastic Paraparesis (HAM/TSP). ( 28095504 )
2017
45
Evaluation of T Regulatory Lymphocytes Transcription Factors in HTLV-1-Associated Myelopathy/Tropical Spastic Paraparesis (HAM/TSP) Patients. ( 28101786 )
2017
46
Role of IL-21 in HTLV-1 infections with emphasis on HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP). ( 28378248 )
2017
47
Effects of host restriction factors and the HTLV-1 subtype on susceptibility to HTLV-1-associated myelopathy/tropical spastic paraparesis. ( 28420387 )
2017
48
Mediators Go Together: High Production of CXCL9, CXCL10, IFN-γ, and TNF-α in HTLV-1-Associated Myelopathy/Tropical Spastic Paraparesis. ( 28648091 )
2017
49
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
50
Retrospective clinic and urodynamic study in the neurogenic bladder dysfunction caused by human T cell lymphotrophic virus type 1 associated myelopathy/tropical spastic paraparesis (HAM/TSP). ( 26756420 )
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 GRCh37 Chromosome 2, 32370059: 32370059
8 SPAST NM_014946.3(SPAST): c.1670C> G (p.Ala557Gly) single nucleotide variant Likely pathogenic rs1057518873 GRCh38 Chromosome 2, 32144990: 32144990
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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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