MCID: SPS019
MIFTS: 38

Spastic Paraparesis

Categories: Rare diseases

Aliases & Classifications for Spastic Paraparesis

MalaCards integrated aliases for Spastic Paraparesis:

Name: Spastic Paraparesis 52 29 6

Classifications:



Summaries for Spastic Paraparesis

MalaCards based summary : Spastic Paraparesis is related to htlv-1 associated myelopathy/tropical spastic paraparesis and spastic paraplegia 35, autosomal recessive. An important gene associated with Spastic Paraparesis is PSEN1 (Presenilin 1). The drugs Pentoxifylline and Folic acid 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 nervous system

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 424)
# Related Disease Score Top Affiliating Genes
1 htlv-1 associated myelopathy/tropical spastic paraparesis 34.6 IFNL3 HLA-A
2 spastic paraplegia 35, autosomal recessive 33.9 SPG7 SPG11 FA2H
3 spastic paraplegia 20, autosomal recessive 33.6 SPG7 SPG11 SPAST
4 spastic paraplegia 2, x-linked 33.5 SPG7 SPG11 SPAST FA2H
5 spastic paraplegia 15, autosomal recessive 33.0 SPG7 SPG11 SPAST FA2H
6 spastic paraplegia 49, autosomal recessive 32.9 TECPR2 SPG11 DDHD1
7 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 32.7 SLC25A15 ALDH18A1
8 masa syndrome 32.2 SPG7 SPG11 SPAST L1CAM KIF1A
9 hereditary spastic paraplegia 31.8 VPS37A TECPR2 SPG7 SPG11 SPAST L1CAM
10 spasticity 31.3 TECPR2 SPG7 SPAST KIF1A DDHD1
11 spastic paraplegia 11, autosomal recessive 31.0 SPG7 SPG11 SPAST
12 primary lateral sclerosis, adult, 1 30.9 SPG7 SPAST
13 spastic paraplegia 4, autosomal dominant 30.8 SPG7 SPG11 SPAST KIF1A FA2H
14 spastic paraplegia 28, autosomal recessive 30.6 SPG11 FA2H DDHD1
15 spastic paraplegia 56, autosomal recessive 30.4 SPG7 SPG11 FA2H DDHD1
16 spastic paraplegia 5a, autosomal recessive 30.4 SPG7 SPG11 SPAST
17 spastic paraplegia 10, autosomal dominant 30.4 SPG7 SPG11 SPAST KIF1A
18 spastic paraplegia 6, autosomal dominant 30.3 SPG7 SPG11 SPAST
19 spastic paraplegia 46, autosomal recessive 30.2 SPG7 SPG11 SPAST FA2H
20 spastic paraplegia 54, autosomal recessive 30.2 SPG7 SPG11 FA2H DDHD1
21 neurodegeneration with brain iron accumulation 30.1 TECPR2 SPG11 FA2H DDHD1
22 hereditary spastic paraplegia 30 30.1 SPG11 SPAST KIF1A FA2H
23 spastic diplegia 29.9 SPAST L1CAM
24 paraplegia 29.7 VPS37A TECPR2 SPG7 SPG11 SPAST L1CAM
25 spastic ataxia 29.6 SPG7 MTPAP KIF1A CHP1 CACNA1A
26 tropical spastic paraparesis 12.9
27 spastic paraparesis and deafness 12.8
28 myelopathy, htlv-1-associated 12.5
29 branchial myoclonus with spastic paraparesis and cerebellar ataxia 12.5
30 alzheimer disease 3 12.1
31 spastic paraplegia 9a, autosomal dominant 12.0
32 spastic paraplegia 23, autosomal recessive 11.9
33 retrovirus-associated myelopathy 11.8
34 human t-cell leukemia virus type 1 11.7
35 hereditary spastic paraplegia 23 11.7
36 3-methylglutaconic aciduria, type iii 11.6
37 krabbe disease 11.6
38 spastic paraplegia 3, autosomal dominant 11.6
39 spastic paraplegia 53, autosomal recessive 11.6
40 spastic paraplegia 9 11.5
41 sjogren-larsson syndrome 11.4
42 spastic ataxia 4, autosomal recessive 11.4
43 mast syndrome 11.3
44 peroxisome biogenesis disorder 10b 11.3
45 spastic ataxia 9, autosomal recessive 11.3
46 retinal dystrophy with leukodystrophy 11.3
47 pelizaeus-merzbacher-like disease 11.3
48 familial spastic paralysis 11.3
49 t-cell lymphoblastic leukemia/lymphoma 10.9
50 leukemia, t-cell, chronic 10.9

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.8 AAAS ADGRB2 CACNA1A CHP1 FA2H HLA-A
2 nervous system MP:0003631 9.44 AAAS ADGRB2 CACNA1A CHP1 FA2H HLA-A

Drugs & Therapeutics for Spastic Paraparesis

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

(show top 50) (show all 58)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pentoxifylline Approved, Investigational Phase 3 6493-05-6 4740
2
Folic acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 59-30-3 6037
3
Biotin Approved, Investigational, Nutraceutical Phase 2, Phase 3 58-85-5 171548
4 Trace Elements Phase 2, Phase 3
5 Vitamins Phase 2, Phase 3
6 Vitamin B Complex Phase 2, Phase 3
7 Folate Phase 2, Phase 3
8 Nutrients Phase 2, Phase 3
9 Vitamin B9 Phase 2, Phase 3
10 Micronutrients Phase 2, Phase 3
11 Vitamin B7 Phase 2, Phase 3
12 Phosphodiesterase Inhibitors Phase 3
13 Antioxidants Phase 3
14 Platelet Aggregation Inhibitors Phase 3
15 Vasodilator Agents Phase 3
16 Protective Agents Phase 3
17 Radiation-Protective Agents Phase 3
18
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
19
Tocopherol Approved, Investigational Phase 2 1406-66-2, 54-28-4 14986
20
Interferon beta-1a Approved, Investigational Phase 2 145258-61-3 6438354
21
Pioglitazone Approved, Investigational Phase 2 111025-46-8 4829
22
Infliximab Approved Phase 2 170277-31-3
23
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
24 Tocotrienol Investigational Phase 2 6829-55-6
25 Anti-Infective Agents Phase 2
26 Antiviral Agents Phase 2
27 Alpha-lipoic Acid Phase 2
28 Respiratory System Agents Phase 2
29 Antidotes Phase 2
30 Thioctic Acid Phase 2
31 Expectorants Phase 2
32 N-monoacetylcystine Phase 2
33 Tocotrienols Phase 2
34 Tocopherols Phase 2
35 Interferon-beta Phase 2
36 Adjuvants, Immunologic Phase 2
37 interferons Phase 2
38 Immunologic Factors Phase 2
39 Hypoglycemic Agents Phase 2
40 Janus Kinase Inhibitors Phase 2
41 Dermatologic Agents Phase 2
42 Gastrointestinal Agents Phase 2
43 Antirheumatic Agents Phase 2
44 Immunoglobulins Phase 1
45 Antibodies Phase 1
46 Antibodies, Monoclonal Phase 1
47
Zidovudine Approved Early Phase 1 30516-87-1 35370
48
Choline Approved, Nutraceutical 62-49-7 305
49
Creatine Approved, Investigational, Nutraceutical 57-00-1 586
50
Aspartic acid Approved, Nutraceutical 56-84-8 5960

Interventional clinical trials:

(show all 23)
# Name Status NCT ID Phase Drugs
1 Open-Label, Exploratory Study of the Efficacy and Safety of Tamibarotene(AM80H) for HTLV-1 Associated Myelopathy/ Tropical Spastic Paraparesis (HAM/TSP) Unknown status NCT01343355 Phase 2, Phase 3 Tamibarotene
2 MD1003 in Adrenomyeloneuropathy : a Randomized Double Blind Placebo Controlled Study Completed NCT02961803 Phase 2, Phase 3 MD1003 100 mg capsule;Placebo
3 Effectiveness of Pentoxifylline in Attenuating Neurological Disease Associated With HTLV-1 and Negative Modulator of Pathological Immune Response. Completed NCT01472263 Phase 3 Pentoxifylline;Placebo
4 A Clinical Trial for Adrenomyeloneuropathy (AMN): Validation of Biomarkers of Oxidative Stress, and Efficacy, Tolerance and Safety of a Mixture of the Antioxidants N-acetylcysteine, Lipoic Acid and Vitamin E Completed NCT01495260 Phase 2 N-acetylcysteine;lipoic acid;vitamin E
5 Combined Virological and Immunological Evaluation of Treatment of Patients With Early HTLV-1-Associated Myelopathy With Recombinant Human Interferon Beta-1a Completed NCT00001785 Phase 2 Recombinant human interferon beta-1a
6 Effect of Pioglitazone Administered to Patients With Adrenomyeloneuropathy: a Phase II, Single-arm, Multicentric Clinical Trial Completed NCT03864523 Phase 2 Pioglitazone
7 Phase II Trial Evaluating the Safety and Efficacy of Ruxolitinib in Patients With Smoldering and Chronic Adult T-cell Leukemia (ATL) Recruiting NCT01712659 Phase 2 Ruxolitinib;ruxolitinib
8 An Open, Non-randomised Pilot Study of Anti-TNF-alpha Therapy in Early or Progressing HAM/TSP Terminated NCT00823641 Phase 2 Infliximab
9 Phase I Study of HTLV-I-Associated Myelopathy/Tropical Spastic Paraparesis (HAM/TSP) Using the Humanized MiK-Beta-1 Monoclonal Antibody Directed Toward the IL-2L-15R-Beta; Subunit (CD122) That Blocks IL-15 Action Completed NCT00076843 Phase 1 Hu MiK-Beta-1
10 Effect of Raltegravir in Patients With Myelopathy/Tropical Spastic Paraparesis Associated With Infection by Human T-Lymphotropic Virus 1 (HTLV-1). Pilot Study Completed NCT02655471 Early Phase 1 "Raltegravir" and "Zidovudine"
11 A Study of Familial and Genetic Aspects of Adult T-Cell Leukemia/Lymphoma, Tropical Spastic Paraparesis and Infective Dermatitis in Jamaica Completed NCT00340821
12 MRI Investigation Of The CNS In HTLV-1 Associated Myelopathy/Tropical Spastic Paraparesis (HAM/TSP) Completed NCT00034723
13 Effects of Physiotherapy in the Treatment of Neurogenic Bladder in Patients Infected With Human T-Lymphotropic Virus 1 Completed NCT01651819
14 Nuclear Magnetic Spectroscopy for the Evaluation of Primary Lateral Sclerosis, Hereditary Spastic Paraplegia and Amyotrophic Lateral Sclerosis Completed NCT00023075
15 Influence of IL28B Genetic Variation on the Phenotype Infection of HTLV-1 Completed NCT01754311
16 Pilot Study of Raltegravir, an Integrase Inhibitor, in Human T-Cell Lymphotrophic Virus-1(HTLV-1) Associated Myelopathy, Tropical Spastic Paraparesis (HAM/TSP) Completed NCT01867320 Early Phase 1 Raltegravir
17 Spasticity: Physiologic Studies Completed NCT00014976
18 Retrovirus Epidemiology Donor Study I (REDS I) Completed NCT00005278
19 SNAP: Measurement of the Subjective Perception of the Symptom in Hereditary Spastic Paraparesis (HSP) Recruiting NCT04256681
20 Immuno-Virological Evaluation of Human T Cell Leukemia Virus Type-1 Associated Myelopathy (HAM/TSP) Recruiting NCT00001778
21 Electromiography Study in the Respiratory Muscle Training in Human Lymphotropic Virus Type 1 Recruiting NCT03829709
22 Improving Gait Adaptability in Hereditary Spastic Paraplegia During Task-specific Training on the C-Mill: Towards Evidence-Based and Individually Tailored Rehabilitation Recruiting NCT04180098
23 Characterization of the Interruptions of the GAA Expansion and Study of Their Influence on the Severity of Friedreich's Ataxia : INTREP-AF Active, not recruiting NCT04346238

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:

40
T Cells, Spinal Cord, Brain, Liver, Thyroid, Testes, Monocytes

Publications for Spastic Paraparesis

Articles related to Spastic Paraparesis:

(show top 50) (show all 2956)
# Title Authors PMID Year
1
Overlapping neuropathological findings in an asymptomatic SPAST gene mutation carrier. 61
32213280 2020
2
Autosomal dominant hereditary spastic paraplegia caused by mutation of UBAP1. 61
32222895 2020
3
Molecular targeting of PD-1 signaling pathway as a novel therapeutic approach in HTLV-1 infection. 61
32283259 2020
4
Frequent horizontal and mother-to-child transmission may contribute to high prevalence of STLV-1 infection in Japanese macaques. 61
32576215 2020
5
Spastic paraparesis associated with advanced liver cirrhosis: a condition obscure in terms of treatment and prognosis. 61
32513765 2020
6
Mutations in heat shock protein beta-1 (HSPB1) are associated with a range of clinical phenotypes related to different patterns of motor neuron dysfunction: A case series. 61
32334137 2020
7
A new paraplegin mutation in a patient with primary progressive multiple sclerosis. 61
32570181 2020
8
Tropical spastic paraparesis in autochthon patient. 61
31784111 2020
9
Early-Onset HTLV-1-Associated Myelopathy/Tropical Spastic Paraparesis. 61
32517313 2020
10
Immunophenotypic analysis of cerebrospinal fluid reveals concurrent development of ATL in the CNS of a HAM/TSP patient. 61
31930455 2020
11
Phylogenetic and phylodynamic study of Human T-cell lymphotropic virus Type 1 (HTLV-1) in Iran. 61
32561293 2020
12
Management of rare movement disorders in Europe: outcome of surveys of the European Reference Network for Rare Neurological Diseases. 61
32386078 2020
13
Mortality and risk of progression to adult T cell leukemia/lymphoma in HTLV-1-associated myelopathy/tropical spastic paraparesis. 61
32393644 2020
14
Neurologic, clinical, and immunologic features in a cohort of HTLV-1 carriers with high proviral loads. 61
32385802 2020
15
Signs, meanings and practices of people living with human t-cell lymphotropic virus type 1 or tropical spastic myelopathy. 61
32367401 2020
16
Clinical characteristics of Taiwanese patients with Hereditary spastic paraplegia type 5. 61
32202070 2020
17
Acute encephalopathy followed by delayed myelopathy: A rare presentation of organophosphate poisoning. 61
31928153 2020
18
Konzo outbreak in the Western Province of Zambia. 61
32127386 2020
19
Acupuncture in the treatment of HTLV-I-associated myelopathy / tropical spastic Paraparesis. 61
32350814 2020
20
The "central vein sign" in patients with diagnostic "red flags" for multiple sclerosis: A prospective multicenter 3T study. 61
31536435 2020
21
The IL-18, IL-12, and IFN-γ expression in HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP) patients, HTLV-1 carriers, and healthy subjects. 61
32270468 2020
22
Expression of TSLC1 in patients with HAM/TSP. 61
32285300 2020
23
Complete genome sequence of human T-cell lymphotropic type 1 from patients with different clinical profiles, including infective dermatitis. 61
31883457 2020
24
Clinicopathological aspects and proviral load of adulthood infective dermatitis associated with HTLV-1: Comparison between juvenile and adulthood forms. 61
32330142 2020
25
Effective Treatment with Tocilizumab in a Rheumatoid Arthritis Patient Complicated with Human T-cell Leukemia Virus Type 1-associated Myelopathy: A Case Report. 61
32321893 2020
26
First Description of Seronegative HTLV-1 Carriers in Argentina. 61
32043459 2020
27
Experienced complaints, activity limitations and loss of motor capacities in patients with pure hereditary spastic paraplegia: a web-based survey in the Netherlands. 61
32131864 2020
28
Endovascular Embolization of a Lateral Sacral Fistula: 2-Dimensional Operative Video. 61
32171002 2020
29
SPG8 mutations in Italian families: clinical data and literature review. 61
31814071 2020
30
Genotype-phenotype correlations of adult-onset PLA2G6-associated Neurodegeneration: case series and literature review. 61
32183746 2020
31
Primary progressive multiple sclerosis presenting under the age of 18 years: Fact or fiction? 61
32124676 2020
32
Use of cerebrospinal fluid CXCL10 and neopterin as biomarkers in HTLV-1-associated myelopathy/tropical spastic paraparesis treated with steroids. 61
31662348 2020
33
The effect of home exercise on the posture and mobility of people with HAM/TSP: a randomized clinical trial. 61
32236329 2020
34
Infective dermatitis: A purely cutaneous manifestation of HTLV-1 infection. 61
31010607 2020
35
Δ1 -Pyrroline-5-carboxylate synthetase deficiency: An emergent multifaceted urea cycle-related disorder. 61
32017139 2020
36
Diffusion tensor imaging in cervical spondylotic myelopathy: a review. 61
32109862 2020
37
Clinical significance of soluble CADM1 as a novel marker for adult T-cell leukemia/lymphoma. 61
32054656 2020
38
Mutations in MTHFR and POLG impaired activity of the mitochondrial respiratory chain in 46-year-old twins with spastic paraparesis. 61
31645654 2020
39
Developmental Outcomes of Aicardi Goutières Syndrome. 61
31559893 2020
40
Leigh syndrome in a patient with a novel C12orf65 pathogenic variant: case report and literature review. 61
32478789 2020
41
Clinical Association of White Matter Hyperintensities Localization in a Mexican Family with Spastic Paraparesis Carrying the PSEN1 A431E Mutation. 61
31884479 2020
42
Abnormal vitamin D and lipid profile in HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP) patients. 61
31713009 2020
43
Spinal intramedullary epidermoid cysts: Three case presentations and literature review. 61
32123605 2020
44
Hereditary Spastic Paraplegia and Intellectual Disability: Clinicogenetic Lessons From a Family Suggesting a Dual Genetics Diagnosis. 61
32117010 2020
45
The Role of Chemokines in the Pathogenesis of HTLV-1. 61
32231656 2020
46
Interferon-γ Secretion Enzyme-Linked Immunospot Assay Determined Among Human T Cell Lymphotropic Virus Type 1-Infected Subjects: A Potential Laboratory Marker for Early HTLV-1-Associated Myelopathy/Tropical Spastic Paraparesis Diagnosis. 61
31474114 2020
47
HTLV-1 Infection and Rheumatic Diseases. 61
32117170 2020
48
VAC14 syndrome in two siblings with retinitis pigmentosa and neurodegeneration with brain iron accumulation. 61
31387860 2019
49
Broadening the phenotype of the TWNK gene associated Perrault syndrome. 61
31852434 2019
50
Nutritional status of human T-lymphotropic virus 1 patients: A retrospective study. 61
31677708 2019

Variations for Spastic Paraparesis

ClinVar genetic disease variations for Spastic Paraparesis:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SPAST NM_014946.3(SPAST):c.1495C>T (p.Arg499Cys)SNV Pathogenic 5660 rs121908511 2:32366974-32366974 2:32141905-32141905
2 PSEN1 NM_000021.4(PSEN1):c.811C>G (p.Leu271Val)SNV Pathogenic 18148 rs63750886 14:73664780-73664780 14:73198072-73198072
3 SPG7 NM_003119.3(SPG7):c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del)deletion Pathogenic/Likely pathogenic 411680 rs768823392 16:89613065-89613073 16:89546657-89546665
4 AAAS NM_015665.6(AAAS):c.787T>C (p.Ser263Pro)SNV Pathogenic/Likely pathogenic 5045 rs121918550 12:53703408-53703408 12:53309624-53309624
5 SPAST NM_014946.3(SPAST):c.1670C>G (p.Ala557Gly)SNV Likely pathogenic 374070 rs1057518873 2:32370059-32370059 2:32144990-32144990
6 SPG11 NM_025137.4(SPG11):c.3785G>T (p.Gly1262Val)SNV Likely pathogenic 374071 rs1057518874 15:44890936-44890936 15:44598738-44598738
7 SPG11 NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro)SNV Conflicting interpretations of pathogenicity 374112 rs201689565 15:44876497-44876497 15:44584299-44584299
8 SPG7 NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)SNV Conflicting interpretations of pathogenicity 42016 rs61755320 16:89613145-89613145 16:89546737-89546737
9 CERT1 NM_001130105.1(CERT1):c.223_233del (p.Arg75fs)deletion Uncertain significance 689370 5:74807184-74807194 5:75511359-75511369
10 CACNA1A NM_023035.3(CACNA1A):c.574C>T (p.Arg192Trp)SNV Uncertain significance 373933 rs1057518779 19:13482559-13482559 19:13371745-13371745

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 membrane GO:0016020 10.13 VPS37A SPG7 SPAST SLC25A15 PSEN1 PEX3
2 centrosome GO:0005813 9.55 VPS37A SPAST PSEN1 ADGRB2 AAAS
3 dendrite GO:0030425 9.35 SPG11 PSEN1 L1CAM KIF1A CACNA1A
4 axon cytoplasm GO:1904115 8.8 SPG7 SPAST KIF1A

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

# Name GO ID Score Top Affiliating Genes
1 microtubule bundle formation GO:0001578 9.13 SPAST CHP1 AAAS
2 anterograde axonal transport GO:0008089 8.8 SPG7 SPAST KIF1A

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.55 VPS37A TECPR2 SPG7 SPG11 SPAST PSEN1

Sources for Spastic Paraparesis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....