MCID: SPS019
MIFTS: 38

Spastic Paraparesis

Categories: Rare diseases

Aliases & Classifications for Spastic Paraparesis

MalaCards integrated aliases for Spastic Paraparesis:

Name: Spastic Paraparesis 20 29 6

Classifications:



Summaries for Spastic Paraparesis

MalaCards based summary : Spastic Paraparesis is related to tropical spastic paraparesis and spastic paraplegia 35, autosomal recessive. An important gene associated with Spastic Paraparesis is SPAST (Spastin). The drugs Immunoglobulins and Antibodies have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, t cells and b cells, 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 454)
# Related Disease Score Top Affiliating Genes
1 tropical spastic paraparesis 33.1 IFNL3 HLA-B HLA-A
2 spastic paraplegia 35, autosomal recessive 32.9 SPG7 SPG11 FA2H
3 htlv-1 associated myelopathy/tropical spastic paraparesis 32.9 IFNL3 HLA-B HLA-A
4 spastic paraplegia 2, x-linked 32.5 SPG7 SPG11 SPAST FA2H
5 spastic paraplegia 15, autosomal recessive 32.1 SPG7 SPG11 SPAST GBA2 FA2H
6 spastic paraplegia 3, autosomal dominant 32.0 SPG7 SPG11 SPAST
7 spastic paraplegia 49, autosomal recessive 32.0 TECPR2 SPG7 SPG11 DDHD1
8 masa syndrome 31.8 SPG7 SPG11 SPAST L1CAM KIF1A
9 spastic paraplegia 11, autosomal recessive 31.0 SPG7 SPG11 SPAST
10 spasticity 30.8 TECPR2 SPG7 SPAST KIF1A DDHD1 AFG3L2
11 hereditary spastic paraplegia 30.6 VPS37A TECPR2 SPG7 SPG11 SPAST L1CAM
12 spastic paraplegia 10, autosomal dominant 30.5 SPG7 SPG11 SPAST KIF1A
13 neuropathy 30.5 TECPR2 SPG7 SPG11 KIF1A AFG3L2
14 spastic paraplegia 28, autosomal recessive 30.4 SPG7 SPG11 FA2H DDHD1
15 spastic paraplegia 7, autosomal recessive 30.4 SPG7 SPG11 AFG3L2
16 spastic paraplegia 4, autosomal dominant 30.4 VPS37A SPG7 SPG11 SPAST KIF1A GBA2
17 spastic paraplegia 76, autosomal recessive 30.3 SPG11 GBA2
18 spastic paraplegia 6, autosomal dominant 30.3 SPG7 SPG11 SPAST
19 nescav syndrome 30.3 VPS37A TECPR2 KIF1A
20 spastic paraplegia 56, autosomal recessive 30.2 SPG7 SPG11 GBA2 FA2H DDHD1
21 paraplegia 30.2 VPS37A TECPR2 SPG7 SPG11 SPAST L1CAM
22 motor peripheral neuropathy 30.2 SPG7 SPG11 KIF1A
23 spastic paraplegia 5a, autosomal recessive 30.2 SPG7 SPG11 SPAST ALDH18A1
24 neurodegeneration with brain iron accumulation 30.1 TECPR2 SPG11 FA2H DDHD1
25 hereditary spastic paraplegia 30 30.0 SPG7 SPG11 SPAST KIF1A FA2H
26 spastic paraplegia 46, autosomal recessive 30.0 SPG7 SPG11 SPAST GBA2 FA2H
27 spastic paraplegia 54, autosomal recessive 30.0 SPG7 SPG11 GBA2 FA2H DDHD1
28 early myoclonic encephalopathy 29.3 SPG7 CACNA1A AFG3L2
29 cerebellar disease 29.1 SPG7 CACNA1A AFG3L2
30 spastic ataxia 29.1 SPG7 SPG11 KIF1A GBA2 CHP1 CACNA1A
31 dentatorubral-pallidoluysian atrophy 28.8 SPG7 CACNA1A AFG3L2
32 myelopathy, htlv-1-associated 11.8
33 spastic paraplegia 20, autosomal recessive 11.6
34 spastic paraparesis and deafness 11.6
35 alzheimer disease 3 11.5
36 spastic paraplegia 9a, autosomal dominant 11.5
37 spastic paraplegia 23, autosomal recessive 11.4
38 retrovirus-associated myelopathy 11.3
39 spastic paraplegia 9 11.3
40 human t-cell leukemia virus type 1 11.3
41 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 11.2
42 sjogren-larsson syndrome 11.2
43 spastic ataxia 4, autosomal recessive 11.2
44 retinal dystrophy with leukodystrophy 11.2
45 hereditary spastic paraplegia 23 11.1
46 branchial myoclonus with spastic paraparesis and cerebellar ataxia 11.1
47 3-methylglutaconic aciduria, type iii 11.1
48 krabbe disease 11.1
49 spastic paraplegia 53, autosomal recessive 11.1
50 mast syndrome 11.0

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.8 AAAS ACBD5 AFG3L2 CACNA1A CHP1 FA2H
2 nervous system MP:0003631 9.47 AAAS ACBD5 AFG3L2 CACNA1A CHP1 FA2H

Drugs & Therapeutics for Spastic Paraparesis

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

(show all 13)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Immunoglobulins Phase 1
2 Antibodies Phase 1
3 Antibodies, Monoclonal Phase 1
4
Zidovudine Approved Early Phase 1 30516-87-1 35370
5 Raltegravir Potassium Early Phase 1
6 Anti-HIV Agents Early Phase 1
7 Anti-Infective Agents Early Phase 1
8 Antimetabolites Early Phase 1
9 Reverse Transcriptase Inhibitors Early Phase 1
10 Antiviral Agents Early Phase 1
11 HIV Integrase Inhibitors Early Phase 1
12 Anti-Retroviral Agents Early Phase 1
13 Integrase Inhibitors Early Phase 1

Interventional clinical trials:


# 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 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
3 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"
4 MRI Investigation Of The CNS In HTLV-1 Associated Myelopathy/Tropical Spastic Paraparesis (HAM/TSP) Completed NCT00034723
5 Effects of Physiotherapy in the Treatment of Neurogenic Bladder in Patients Infected With Human T-Lymphotropic Virus 1 Completed NCT01651819
6 A Study of Familial and Genetic Aspects of Adult T-Cell Leukemia/Lymphoma, Tropical Spastic Paraparesis and Infective Dermatitis in Jamaica Completed NCT00340821
7 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
8 SNAP: Measurement of the Subjective Perception of the Symptom in Hereditary Spastic Paraparesis (HSP) Recruiting NCT04256681

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
Spinal Cord, T Cells, B Cells, Endothelial, Bone Marrow, Eye, Thymus

Publications for Spastic Paraparesis

Articles related to Spastic Paraparesis:

(show top 50) (show all 3028)
# Title Authors PMID Year
1
Human T-cell leukemia virus type 1 infection among Japanese immigrants and their descendants living in Southeast Brazil: A call for preventive and control responses. 61
33544713 2021
2
Clinical significance of soluble CADM1 as a novel marker for adult T-cell leukemia/lymphoma. 61
32054656 2021
3
Primary progressive multiple sclerosis presenting under the age of 18 years: Fact or fiction? 61
32124676 2021
4
An update on human T-cell leukemia virus type I (HTLV-1)-associated myelopathy/tropical spastic paraparesis (HAM/TSP) focusing on clinical and laboratory biomarkers. 61
32835825 2021
5
Cerebrotendinous Xanthomatosis: diversity of presentation and refining treatment with chenodeoxycholic acid. 61
33509302 2021
6
Adult polyglucosan body disease-an atypical compound heterozygous with a novel GBE1 mutation. 61
33517539 2021
7
Novel mutations in ATP13A2 associated with mixed neurological presentations and iron toxicity due to nonsense-mediated decay. 61
33091395 2021
8
Spastic Paraplegia with Paget's Disease of Bone due to a VCP Gene Mutation. 61
32893227 2021
9
Pain, psychoaffective symptoms, and quality of life in human T cell lymphotropic virus type 1 (HTLV-1): a cross-sectional study. 61
33405200 2021
10
Allogeneic hematopoietic stem cell transplantation for adult T-cell leukemia/lymphoma with HTLV-1-associated myelopathy. 61
33423163 2021
11
Decrease in naïve T cell production due to HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP) development. 61
33338979 2021
12
Identification of dysregulated pathways underlying HTLV-1-associated myelopathy/tropical spastic paraparesis through co-expression network analysis. 61
33405203 2021
13
Spirituality as Strategies for Coping With Tropical Spastic Paraparesis: Results of Focus Group. 61
33417057 2021
14
Intrinsic and Extrinsic Cell Apoptotic Pathways in Patients with HTLV-1-Associated Myelopathy/Tropical Spastic Paraparesis: A Systematic Review. 61
33470891 2021
15
The clinical utility of exome sequencing and extended bioinformatic analyses in adolescents and adults with a broad range of neurological phenotypes: an Australian perspective. 61
33310205 2021
16
Therapeutic effects of virtual reality video gaming on functional mobility, balance, and gait speed in individuals with tropical spastic paraparesis: A randomized crossover clinical trial. 61
33533820 2021
17
Ethylmalonic encephalopathy: Clinical course and therapy response in an uncommon mild case with a severe ETHE1 mutation. 61
32923369 2020
18
Biotinidase deficiency: A treatable cause of hereditary spastic paraparesis. 61
33134520 2020
19
Spinal cord stimulation improves motor function and gait in spastic paraplegia type 4 (SPG4): Clinical and neurophysiological evaluation. 61
33385858 2020
20
A novel case of congenital spinocerebellar ataxia 5: further support for a specific phenotype associated with the p.(Arg480Trp) variant in SPTBN2. 61
33318253 2020
21
The E3/E4 ubiquitin conjugation factor UBE4B interacts with and ubiquitinates the HTLV-1 Tax oncoprotein to promote NF-κB activation. 61
33362245 2020
22
Extracellular Vesicles in HTLV-1 Communication: The Story of an Invisible Messenger. 61
33322043 2020
23
Autosomal dominant early onset Alzheimer's disease in the Mexican state of Jalisco: High frequency of the mutation PSEN1 c.1292C>A and phenotypic profile of patients. 61
33274538 2020
24
Behr syndrome and hypertrophic cardiomyopathy in a family with a novel UCHL1 deletion. 61
32656641 2020
25
Status of humoral and cellular immune markers in human T-cell lymphotropic virus type 1 (HTLV-1) asymptomatic carriers in northeastern Iran, Mashhad. 61
33025348 2020
26
Monogenic lupus due to spondyloenchondrodysplasia with spastic paraparesis and intracranial calcification: case-based review. 61
32691099 2020
27
GBE1-related disorders: Adult polyglucosan body disease and its neuromuscular phenotypes. 61
33141444 2020
28
RNF170-Related Hereditary Spastic Paraplegia: Confirmation by a Novel Mutation. 61
33165979 2020
29
An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids. 61
33239752 2020
30
A genetic mimic of cerebral palsy: Homozygous NFU1 mutation with marked intrafamilial phenotypic variation. 61
32747156 2020
31
Familial Giant Enchondroma of Thoracic Spine: A Rare Manifestation of a Rare Disease. 61
33342888 2020
32
Phylogenetic and phylodynamic study of Human T-cell lymphotropic virus Type 1 (HTLV-1) in Iran. 61
32561293 2020
33
Limitations in daily activities, risk awareness, social participation, and pain in patients with HTLV-1 using the SALSA and Participation scales. 61
32941806 2020
34
Dietary Intake and Serum Selenium Levels Influence the Outcome of HTLV-1 Infection. 61
33169347 2020
35
Effectiveness and safety of non-tumor necrosis factor inhibitor therapy for anti-human T-cell leukemia virus type 1 antibody-positive rheumatoid arthritis. 61
33161771 2020
36
Analysis of a within-host HIV/HTLV-I co-infection model with immunity. 61
33157165 2020
37
Genetics of primary lateral sclerosis. 61
33602012 2020
38
Spinal epidural lipomatosis: a rare association of Cushing's disease. 61
33434165 2020
39
Fatal holocord recurrence of a pregnancy-related, low-grade spinal ependymoma: case report and review of an unusual clinical phenomenon. 61
33009374 2020
40
Health service experiences among adults with hereditary spastic paraparesis or neurofibromatosis type 1. 61
32924306 2020
41
Is intrathecal baclofen an effective treatment for children with hereditary spastic paraparesis? 61
32732319 2020
42
Identification of a novel mutation in ATP13A2 associated with a complicated form of hereditary spastic paraplegia. 61
33134512 2020
43
Emotional detachment, gait ataxia, and cerebellar dysconnectivity associated with compound heterozygous mutations in the SPG7 gene. 61
32893728 2020
44
Rare Presentation: A Report of 2 Identical Cases with Thoracic Compressive Myelopathy in Down Syndrome. 61
32673810 2020
45
Health state utility values in people living with HTLV-1 and in patients with HAM/TSP: The impact of a neglected disease on the quality of life. 61
33064742 2020
46
Effectiveness of virtual reality games for falls, postural oscillations, pain and quality of life of individual HAM/TSP: a randomized, controlled, clinical trial. 61
32737862 2020
47
Hyperacute extensive spinal cord infarction and negative spine magnetic resonance imaging: a case report and review of the literature. 61
33120840 2020
48
Human T-lymphotropic virus type 1 (HTLV-1) and cellular immune response in HTLV-1-associated myelopathy/tropical spastic paraparesis. 61
32705480 2020
49
Spasticity distribution and severity in individuals with HTLV-1-associated myelopathy/tropical spastic paraparesis. 61
33021698 2020
50
Dystonia as initial presentation of compound heterozygous GBA2 mutations: Expanding the phenotypic spectrum of SPG46. 61
32590105 2020

Variations for Spastic Paraparesis

ClinVar genetic disease variations for Spastic Paraparesis:

6 (show all 14)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 AAAS NM_015665.6(AAAS):c.787T>C (p.Ser263Pro) SNV Pathogenic 5045 rs121918550 12:53703408-53703408 12:53309624-53309624
2 SPAST NM_014946.4(SPAST):c.1495C>T SNV Pathogenic 5660 rs121908511 2:32366974-32366974 2:32141905-32141905
3 SPG7 NM_003119.3(SPG7):c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del) Deletion Pathogenic 411680 rs768823392 16:89613065-89613073 16:89546657-89546665
4 PSEN1 NM_000021.4(PSEN1):c.811C>G (p.Leu271Val) SNV Pathogenic 18148 rs63750886 14:73664780-73664780 14:73198072-73198072
5 AFG3L2 NM_006796.3(AFG3L2):c.1541C>T (p.Pro514Leu) SNV Pathogenic 973106 18:12351095-12351095 18:12351096-12351096
6 SPG7 NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) SNV Pathogenic 42016 rs61755320 16:89613145-89613145 16:89546737-89546737
7 SPG11 NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro) SNV Likely pathogenic 374112 rs201689565 15:44876497-44876497 15:44584299-44584299
8 SPAST NM_014946.3(SPAST):c.1670C>G (p.Ala557Gly) SNV Likely pathogenic 374070 rs1057518873 2:32370059-32370059 2:32144990-32144990
9 SPG11 NM_025137.4(SPG11):c.3785G>T (p.Gly1262Val) SNV Likely pathogenic 374071 rs1057518874 15:44890936-44890936 15:44598738-44598738
10 CACNA1A NM_001127222.2(CACNA1A):c.574C>T (p.Arg192Trp) SNV Likely pathogenic 373933 rs1057518779 19:13482559-13482559 19:13371745-13371745
11 GBA2 NM_020944.3(GBA2):c.1807T>A (p.Trp603Arg) SNV Uncertain significance 973831 9:35738889-35738889 9:35738892-35738892
12 GBA2 NM_020944.3(GBA2):c.1444A>C (p.Asn482His) SNV Uncertain significance 973832 9:35739763-35739763 9:35739766-35739766
13 PTPRZ1 NC_000007.14:g.122004613_122004618del Deletion Uncertain significance 975916 7:121644667-121644672 7:122004613-122004618
14 CERT1 NM_001130105.1(CERT1):c.223_233del (p.Arg75fs) Deletion Uncertain significance 689370 rs1016443351 5:74807184-74807194 5:75511359-75511369

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 10.06 VPS37A SPG7 SPAST PSEN1 L1CAM KIF1A
2 endoplasmic reticulum GO:0005783 9.91 SPAST PSEN1 HLA-B HLA-A GBA2 FA2H
3 Golgi membrane GO:0000139 9.8 PSEN1 HLA-B HLA-A GBA2 CHP1
4 endoplasmic reticulum membrane GO:0005789 9.8 SPAST PSEN1 HLA-B HLA-A GBA2 FA2H
5 MHC class I protein complex GO:0042612 9.26 HLA-B HLA-A
6 axon cytoplasm GO:1904115 9.13 SPG7 SPAST KIF1A
7 m-AAA complex GO:0005745 8.62 SPG7 AFG3L2

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrial fusion GO:0008053 9.43 SPG7 AFG3L2
2 detection of bacterium GO:0016045 9.4 HLA-B HLA-A
3 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent GO:0002480 9.37 HLA-B HLA-A
4 antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independent GO:0002486 9.32 HLA-B HLA-A
5 protection from natural killer cell mediated cytotoxicity GO:0042270 9.26 HLA-B HLA-A
6 mitochondrial protein processing GO:0034982 9.16 SPG7 AFG3L2
7 microtubule bundle formation GO:0001578 9.13 SPAST CHP1 AAAS
8 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 ATPase activity GO:0016887 9.46 SPG7 SPAST KIF1A AFG3L2
2 ATP-dependent peptidase activity GO:0004176 8.96 SPG7 AFG3L2
3 TAP binding GO:0046977 8.62 HLA-B HLA-A

Sources for Spastic Paraparesis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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