MCID: SPS019
MIFTS: 41

Spastic Paraparesis malady

Categories: Rare diseases

Aliases & Classifications for Spastic Paraparesis

Aliases & Descriptions for Spastic Paraparesis:

Name: Spastic Paraparesis 50 29

Classifications:



Summaries for Spastic Paraparesis

MalaCards based summary : Spastic Paraparesis is related to hydrocephalus and tremor. An important gene associated with Spastic Paraparesis is AAAS (Aladin WD Repeat Nucleoporin), and among its related pathways/superpathways are Jak-STAT signaling pathway (KEGG) and Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers. The drugs Cyclosporine and Zidovudine have been mentioned in the context of this disorder. Affiliated tissues include t cells, spinal cord and brain, and related phenotypes are behavior/neurological and digestive/alimentary

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 160)
id Related Disease Score Top Affiliating Genes
1 hydrocephalus 29.9 DDHD1 SPAST SPG11
2 tremor 29.8 DDHD1 TECPR2
3 tropical spastic paraparesis 12.5
4 htlv-1 associated myelopathy/tropical spastic paraparesis 12.3
5 spastic paraparesis and deafness 12.1
6 hereditary spastic paraplegia 11.9
7 myelopathy, htlv-1-associated 11.7
8 spastic paraplegia 35, autosomal recessive 11.7
9 human t-cell leukemia virus type 1 11.2
10 troyer syndrome 11.2
11 alzheimer disease, type 3 11.2
12 spastic paraplegia 9a, autosomal dominant 11.2
13 retrovirus-associated myelopathy 11.2
14 spasticity 11.1
15 spastic paraplegia 23 11.0
16 spastic paraplegia 15, autosomal recessive 11.0
17 spastic paraplegia 9 11.0
18 wells-jankovic syndrome 11.0
19 spastic paraplegia 2, x-linked 10.9
20 masa syndrome 10.9
21 spastic paraplegia 35 10.9
22 spastic paraplegia 53, autosomal recessive 10.9
23 ataxia, spastic, 4 10.9
24 hydrocephalus due to aqueductal stenosis 10.9
25 hyperornithinemia-hyperammonemia-homocitrullinemia syndrome 10.9
26 familial spastic paralysis 10.9
27 spastic paraplegia 3a, autosomal dominant 10.9
28 krabbe disease 10.9
29 mast syndrome 10.9
30 sjogren-larsson syndrome 10.9
31 leukemia 10.5
32 t-cell leukemia 10.5
33 ataxia 10.3
34 adult t-cell leukemia 10.2
35 neuropathy 10.2
36 dermatitis 10.2
37 joubert syndrome 20 10.2 FA2H SPG11
38 sitosterolemia 10.2 SPAST SPG11
39 cerebellofaciodental syndrome 10.2 SPG11 TECPR2
40 hereditary spastic paraplegia 72 10.2 SPAST SPG11
41 lymphoma 10.2
42 hepatitis 10.1
43 alzheimer disease 10.1
44 methylmalonate semialdehyde dehydrogenase deficiency 10.1 FA2H SPG11 TECPR2
45 dementia 10.1
46 cerebritis 10.1
47 paralytic poliomyelitis 10.0 IFNG IL2
48 caplan's syndrome 10.0 IFNG IL2
49 autosomal dominant deafness-onychodystrophy syndrome 10.0 IFNG IL2
50 severe combined immunodeficiency, t cell-negative, b-cell/natural killer-cell positive 10.0 IFNG IL2

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



Diseases related to Spastic Paraparesis

Symptoms & Phenotypes for Spastic Paraparesis

MGI Mouse Phenotypes related to Spastic Paraparesis:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.86 FA2H IFNG IL2 PSEN1 SPAST SPG11
2 digestive/alimentary MP:0005381 9.55 CX3CR1 IFNG IL2 PSEN1 AAAS
3 endocrine/exocrine gland MP:0005379 9.43 DDHD1 FA2H IFNG IL2 PSEN1 AAAS
4 reproductive system MP:0005389 9.17 DDHD1 IFNG IL2 PSEN1 SPAST AAAS

Drugs & Therapeutics for Spastic Paraparesis

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

(show top 50) (show all 66)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cyclosporine Approved, Investigational, Vet_approved Phase 2, Phase 3 79217-60-0, 59865-13-3 5284373 6435893
2
Zidovudine Approved Phase 2, Phase 3,Early Phase 1 30516-87-1 35370
3
Lamivudine Approved, Investigational Phase 2, Phase 3 134678-17-4 60825
4
Valproic Acid Approved, Investigational Phase 3 99-66-1 3121
5
Pentoxifylline Approved, Investigational Phase 3 6493-05-6 4740
6
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3 22916-47-8 4189
7 GABA Agents Phase 3
8 Neurotransmitter Agents Phase 3
9 Nucleic Acid Synthesis Inhibitors Phase 2, Phase 3,Early Phase 1
10 Dermatologic Agents Phase 2, Phase 3
11 Tranquilizing Agents Phase 3
12 Vasodilator Agents Phase 3
13 Phosphodiesterase Inhibitors Phase 3
14 Platelet Aggregation Inhibitors Phase 3
15 Anti-HIV Agents Phase 2, Phase 3,Early Phase 1
16 Anti-Infective Agents Phase 2, Phase 3, Early Phase 1
17 Immunosuppressive Agents Phase 2, Phase 3
18 Anticonvulsants Phase 3
19 Protective Agents Phase 3,Phase 2
20 Antifungal Agents Phase 2, Phase 3
21 Psychotropic Drugs Phase 3
22 Antimanic Agents Phase 3
23 Radiation-Protective Agents Phase 3
24 Antimetabolites Phase 2, Phase 3,Early Phase 1
25 Anti-Retroviral Agents Phase 2, Phase 3,Early Phase 1
26 Reverse Transcriptase Inhibitors Phase 2, Phase 3,Early Phase 1
27 Antirheumatic Agents Phase 2, Phase 3
28 Calcineurin Inhibitors Phase 2, Phase 3
29 Antiviral Agents Phase 2, Phase 3,Early Phase 1
30 Antioxidants Phase 3,Phase 2
31 Central Nervous System Depressants Phase 3
32
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
33
Interferon beta-1a Approved, Investigational Phase 2 145258-61-3 6438354
34
Infliximab Approved Phase 2 170277-31-3
35
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
36
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
37 interferons Phase 2
38 Adjuvants, Immunologic Phase 2
39 N-monoacetylcystine Phase 2
40 Thioctic Acid Phase 2
41 Tocopherols Phase 2
42 Tocotrienols Phase 2
43 Trace Elements Phase 2
44 Vitamin B Complex Phase 2
45 Vitamins Phase 2
46 Expectorants Phase 2
47 Antidotes Phase 2
48 Interferon-beta Phase 2
49 Respiratory System Agents Phase 2
50 Micronutrients Phase 2

Interventional clinical trials:

(show all 25)
id Name Status NCT ID Phase
1 Efficacy and Safety of Tamibarotene(AM80H) for HTLV-1 Associated Myelopathy/ Tropical Spastic Paraparesis (HAM/TSP) Unknown status NCT01343355 Phase 2, Phase 3
2 Use Of Valproid Acid To Treat Tropical Spastic Paraparesis/HTLV-1-Associated Myelopathy (TSP/HAM) Completed NCT00681980 Phase 3
3 Ciclosporin in HTLV-1 Associated Myelopathy/ Tropical Spastic Paraparesis (HAM/TSP) Completed NCT00773292 Phase 2, Phase 3
4 Use of Pentoxifylline in Human T-lymphotropic Virus Type-1 (HTLV-1) Diseases Completed NCT01472263 Phase 3
5 Zidovudine Plus Lamivudine in HTLV-I-associated Myelopathy: a Randomised Trial Completed NCT00272480 Phase 2, Phase 3
6 Recombinant Human Interferon Beta-1a (Avonex) for the Treatment of Patients With HTLV-1-Associated Myelopathy (HAM) Completed NCT00001785 Phase 2
7 A Clinical Trial for AMN: Validation of Biomarkers of Oxidative Stress, Efficacy and Safety of a Mixture of Antioxidants Completed NCT01495260 Phase 2
8 The HAM Infliximab Study Terminated NCT00823641 Phase 2
9 Hu Mik-Beta-1 to Treat HTLV-1-Associated Myelopathy/Tropical Spastic Paraparesis Recruiting NCT00076843 Phase 1
10 Influence of IL28B Genetic Variation on the Phenotype Infection of HTLV-1 Unknown status NCT01754311
11 Evaluation of the MP Diagnostics HTLV Blot 2.4 Unknown status NCT01467024
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 Effects of Therapeutic Music Combined With Loaded Sit-to-Stand Resistance Exercise for Children With Spastic Diplegia Completed NCT01367327
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 Evaluation of Patients With HAM/TSP Recruiting NCT00001778
20 Raltegravir for HAM/TSP Recruiting NCT01867320 Early Phase 1
21 Multimodal Exercises to Improve Leg Function After Spinal Cord Injury Active, not recruiting NCT01740128
22 Urological Physical Therapy in HTLV-1 With Urinary Symptoms Enrolling by invitation NCT01651819
23 Dual Algorithm Post Market Clinical Study Enrolling by invitation NCT03146013
24 Effect of Raltegravir in Patients With Acute Tropical Spastic Paraparesis - Human T-Lymphotropic Virus 1 Infection Not yet recruiting NCT02655471 Early Phase 1
25 Safety and Efficiency Study of Valproic Acid In HAM/TSP Terminated NCT00519181

Search NIH Clinical Center for Spastic Paraparesis

Genetic Tests for Spastic Paraparesis

Genetic tests related to Spastic Paraparesis:

id Genetic test Affiliating Genes
1 Spastic Paraparesis 29

Anatomical Context for Spastic Paraparesis

MalaCards organs/tissues related to Spastic Paraparesis:

39
T Cells, Spinal Cord, Brain, Nk Cells, B Cells, Testes, Amygdala

Publications for Spastic Paraparesis

Articles related to Spastic Paraparesis:

(show top 50) (show all 673)
id Title Authors Year
1
Modulatory effects of curcumin on apoptosis and cytotoxicity-related molecules in HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP) patients. ( 27894665 )
2017
2
Effects of host restriction factors and the HTLV-1 subtype on susceptibility to HTLV-1-associated myelopathy/tropical spastic paraparesis. ( 28420387 )
2017
3
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
4
Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) with a novel DARS2 mutation and isolated progressive spastic paraparesis. ( 28017220 )
2017
5
Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23. ( 28157540 )
2017
6
Clonus Associated with Tropical Spastic Paraparesis. ( 27783915 )
2016
7
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 )
2016
8
Episodic spastic paraparesis successfully treated with unaided blood transfusions: a case report. ( 26915434 )
2016
9
Cerebellar dysfunction and spastic paraparesis associated to anti-Ri antibodies in a patient with a pancreatic neuroendocrine tumor. ( 27591774 )
2016
10
HTLV-1 associated myelopathy/tropical spastic paraparesis (HAM/TSP): A comparative study to identify factors that influence disease progression. ( 27871430 )
2016
11
Correction: Familial Clusters of HTLV-1-Associated Myelopathy/Tropical Spastic Paraparesis. ( 27028551 )
2016
12
HLA-G 3' untranslated region polymorphisms are associated with HTLV-1 infection, proviral load and HTLV-associated myelopathy/tropical spastic paraparesis development. ( 27449667 )
2016
13
The Effects of Dalfampridine on Hereditary Spastic Paraparesis. ( 27606838 )
2016
14
Two Cases of Human T-Lymphotropic Virus Type I-Associated Myelopathy/Tropical Spastic Paraparesis Caused by Living-Donor Renal Transplantation. ( 27777805 )
2016
15
Mitochondrial dysfunction in hereditary spastic paraparesis with mutations in DDHD1/SPG28. ( 26944165 )
2016
16
Tau Accumulation in Primary Motor Cortex of Variant Alzheimer's Disease with Spastic Paraparesis. ( 26890779 )
2016
17
Superficial warming and cooling of the leg affects walking speed and neuromuscular impairments in people with spastic paraparesis. ( 27262978 )
2016
18
Multiple system atrophy presenting initially as spastic paraparesis. ( 26723996 )
2016
19
Longstanding spastic paraparesis in a patient infected with hepatitis C virus and seropositive for aquaporin-4 antibody - Case report and review of the literature. ( 27456886 )
2016
20
Selective dorsal rhizotomy for hereditary spastic paraparesis in children. ( 27312078 )
2016
21
Health survey of adults with hereditary spastic paraparesis compared to population study controls. ( 27412159 )
2016
22
Gait Patterns in Patients with Hereditary Spastic Paraparesis. ( 27732632 )
2016
23
Widespread white matter and conduction defects in PSEN1-related spastic paraparesis. ( 27614114 )
2016
24
Immune-mediated spastic paraparesis accompanied with high titres of voltage-gated potassium channel complex antibodies and myokymia/fasciculation. ( 27084231 )
2016
25
Variants in KIF1A gene in dominant and sporadic forms of hereditary spastic paraparesis. ( 26410750 )
2015
26
Common I^-chain blocking peptide reduces in vitro immune activation markers in HTLV-1-associated myelopathy/tropical spastic paraparesis. ( 26283355 )
2015
27
Clinical presentation of axial myopathy in two siblings with HTLV-1 associated myelopathy/tropical spastic paraparesis (HAM/TSP). ( 25884435 )
2015
28
Deep Sequencing Analysis of Human T Cell Lymphotropic Virus Type 1 Long Terminal Repeat 5' Region from Patients with Tropical Spastic Paraparesis/Human T Cell Lymphotropic Virus Type 1-Associated Myelopathy and Asymptomatic Carriers. ( 26472535 )
2015
29
High IFN-I^/IL-10 Expression Ratio and Increased Frequency of Persistent Human T-Cell Lymphotropic Virus Type 1-Infected Clones Are Associated with Human T-Cell Lymphotropic Virus Type 1-Associated Myelopathy/Tropical Spastic Paraparesis Development. ( 25833232 )
2015
30
Postrenal Transplant Human T-Cell Lymphotropic Virus Type I-Associated Myelopathy/Tropical Spastic Paraparesis: A Case Report and Review of the Literature. ( 27500208 )
2015
31
HTLV-1-Associated Myelopathy/Tropical Spastic Paraparesis Is Not Associated with SNP rs12979860 of the IL-28B Gene. ( 26609200 )
2015
32
Triple Therapy with Prednisolone, Pegylated Interferon and Sodium Valproate Improves Clinical Outcome and Reduces Human T-Cell Leukemia Virus Type 1 (HTLV-1) Proviral Load, Tax and HBZ mRNA Expression in Patients with HTLV-1-Associated Myelopathy/Tropical Spastic Paraparesis. ( 26174324 )
2015
33
Diagnosis of spinal xanthomatosis by next-generation sequencing: identifying a rare, treatable mimic of hereditary spastic paraparesis. ( 25862734 )
2015
34
HTLV-1-associated myelopathy/tropical spastic paraparesis. ( 27188208 )
2015
35
Human T-lymphotropic virus 1 (HTLV-1)-associated lichenoid dermatitis induced by CD8(+) T cells in HTLV-1 carrier, HTLV-1-associated myelopathy/tropical spastic paraparesis and adult T-cell leukemia/lymphoma. ( 26077665 )
2015
36
Neurological Manifestations in Human T-Cell Lymphotropic Virus Type 1 (HTLV-1)-Infected Individuals Without HTLV-1-Associated Myelopathy/Tropical Spastic Paraparesis: A Longitudinal Cohort Study. ( 25820277 )
2015
37
A Japanese case of cerebellar ataxia, spastic paraparesis and deep sensory impairment associated with a novel homozygous TTC19 mutation. ( 25652355 )
2015
38
Early-onset spastic paraparesis as presenting sign of familial Creutzfeldt-Jakob disease. ( 26578040 )
2015
39
Human T-Cell Lymphotropic Virus Type 1 (HTLV-1) and HTLV-1-Associated Myelopathy/Tropical Spastic Paraparesis. ( 25820278 )
2015
40
Visualization of HTLV-1-specific cytotoxic T lymphocytes in the spinal cords of patients with HTLV-1-associated myelopathy/tropical spastic paraparesis. ( 25470342 )
2015
41
Osteochondroma of Upper Dorsal Spine Causing Spastic Paraparesis in Hereditary Multiple Exostosis: A Case Report. ( 26816957 )
2015
42
A new double-trouble phenotype: fascioscapulohumeral muscular dystrophy ameliorates hereditary spastic paraparesis due to spastin mutation. ( 25511172 )
2015
43
Hypometabolism of watershed areas of the brain in HTLV-1-associated myelopathy/tropical spastic paraparesis. ( 26156876 )
2015
44
Electrophysiological Analysis Shows Dizziness as the First Symptom in Human T Cell Lymphotropic Virus Type-Associated Myelopathy/Tropical Spastic Paraparesis. ( 25760424 )
2015
45
Tax secretion from peripheral blood mononuclear cells and tax detection in plasma of patients with human T-lymphotropic virus-type 1-associated myelopathy/tropical spastic paraparesis and asymptomatic carriers. ( 26241614 )
2015
46
A Peruvian family with a high burden of HTLV-1-associated myelopathy/tropical spastic paraparesis. ( 26392440 )
2015
47
Neurological manifestations in individuals with HTLV-1-associated myelopathy/tropical spastic paraparesis in the Amazon. ( 26169165 )
2015
48
CD80+ and CD86+ B cells as biomarkers and possible therapeutic targets in HTLV-1 associated myelopathy/tropical spastic paraparesis and multiple sclerosis. ( 24472094 )
2014
49
Mutations in FA2H in three Arab families with a clinical spectrum of neurodegeneration and hereditary spastic paraparesis. ( 25496456 )
2014
50
Hereditary spastic paraparesis in adults. A clinical and genetic perspective from Tuscany. ( 24731568 )
2014

Variations for Spastic Paraparesis

ClinVar genetic disease variations for Spastic Paraparesis:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 AAAS NM_015665.5(AAAS): c.787T> C (p.Ser263Pro) single nucleotide variant Pathogenic rs121918550 GRCh37 Chromosome 12, 53703408: 53703408
2 SPAST NM_014946.3(SPAST): c.1495C> T (p.Arg499Cys) single nucleotide variant Pathogenic rs121908511 GRCh37 Chromosome 2, 32366974: 32366974

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:

id Name GO ID Score Top Affiliating Genes
1 nuclear membrane GO:0031965 8.8 AAAS PSEN1 SPAST

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

id Name GO ID Score Top Affiliating Genes
1 positive regulation of protein phosphorylation GO:0001934 9.43 IFNG IL2 PSEN1
2 positive regulation of dendritic spine development GO:0060999 9.32 IL2 PSEN1
3 cerebral cortex cell migration GO:0021795 9.16 CX3CR1 PSEN1
4 positive regulation of protein import into nucleus, translocation GO:0033160 8.96 IFNG PSEN1
5 positive regulation of isotype switching to IgG isotypes GO:0048304 8.62 IFNG IL2

Molecular functions related to Spastic Paraparesis according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 8.8 IFNG IFNL3 IL2

Sources for Spastic Paraparesis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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