MCID: SPS019
MIFTS: 41

Spastic Paraparesis malady

Rare diseases category
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Summaries for Spastic Paraparesis

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MalaCards based summary: Spastic Paraparesis is related to tropical spastic paraparesis and alzheimer's disease. An important gene associated with Spastic Paraparesis is FA2H (fatty acid 2-hydroxylase), and among its related pathways are Cytoplasmic microtubules and Amyotrophic lateral sclerosis (ALS). The compounds superoxide and ionomycin have been mentioned in the context of this disorder. Affiliated tissues include t cells, spinal cord and brain, and related mouse phenotypes are normal and behavior/neurological.

Aliases & Classifications for Spastic Paraparesis

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Spastic Paraparesis, Aliases & Descriptions:

Name: Spastic Paraparesis 42


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases


Related Diseases for Spastic Paraparesis

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

(show top 50)    (show all 136)
idRelated DiseaseScoreTop Affiliating Genes
1tropical spastic paraparesis32.7CNTN2
2alzheimer's disease30.9PSEN1, NEFH, NEFL
3neuropathy30.8NEFH, NEFL
4multiple sclerosis30.2CD274, KLRK1, CX3CR1, NEFL
5systemic lupus erythematosus29.8KLRK1, CX3CR1, TNFRSF4
6spasticity11.5
7leukemia10.9
8t-cell leukemia10.9
9htlv-1 associated myelopathy/tropical spastic paraparesis10.9
10htlv-1 associated myelopathy10.8
11ataxia10.6
12adult t-cell leukemia10.6
13dermatitis10.6
14hepatitis10.5
15peripheral neuropathy10.5
16hereditary spastic paraplegia10.4
17cerebritis10.4
18dementia10.4
19lateral sclerosis10.4
20troyer syndrome10.4
21leukodystrophy10.4
22neurologic diseases10.4
23adrenomyeloneuropathy10.4
24human t-cell leukemia virus type 110.4
25leukodystrophy, dysmyelinating, and spastic paraparesis with or without dystonia10.4
26wells-jankovic syndrome10.4
27retrovirus-associated myelopathy10.4
28adrenoleukodystrophy10.3
29amyotrophic lateral sclerosis10.3
30myelitis10.3
31creutzfeldt-jakob disease10.3
32ischemia10.3
33paraplegia10.3
34infective dermatitis associated with htlv-110.3
35cataract10.2
36cerebellar ataxia10.2
37hiv-110.2
38hydrocephalus10.2
39addison's disease10.2
40lyme disease10.2
41sensorineural hearing loss10.2
42lupus erythematosus10.2
43vasculitis10.2
44fatty acid hydroxylase-associated neurodegeneration10.2
45hyperekplexia10.2
46polymyositis10.2
47spastic paraplegia 1510.2
48spastic paraplegia 910.2
49mental retardation10.2
50autonomic dysfunction10.2

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



Diseases related to spastic paraparesis

Symptoms for Spastic Paraparesis

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Drugs & Therapeutics for Spastic Paraparesis

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Drug clinical trials:

Search ClinicalTrials for Spastic Paraparesis

Search NIH Clinical Center for Spastic Paraparesis

Genetic Tests for Spastic Paraparesis

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Anatomical Context for Spastic Paraparesis

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MalaCards organs/tissues related to Spastic Paraparesis:

32
T cells, Spinal cord, Brain, Testes, Nk cells, B cells, Thymus, Skeletal muscle, Kidney, Thyroid, Amygdala

Animal Models for Spastic Paraparesis or affiliated genes

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MGI Mouse Phenotypes related to Spastic Paraparesis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00028738.6PSEN1, CX3CR1, NEFL, TNFRSF4
2MP:00053867.9CD274, CNTN2, PSEN1, CX3CR1, FA2H, NEFH
3MP:00053847.9TNFRSF4, NEFH, CX3CR1, PSEN1, CD274
4MP:00036317.9NEFL, NEFH, FA2H, CX3CR1, PSEN1, CNTN2
5MP:00053977.8TNFRSF4, CX3CR1, PSEN1, KLRK1, CD274
6MP:00053877.7CD274, KLRK1, PSEN1, CX3CR1, TNFRSF4

Publications for Spastic Paraparesis

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Articles related to Spastic Paraparesis:

(show top 50)    (show all 616)
idTitleAuthorsYear
1
Leukodystrophies underlying cryptic spastic paraparesis: frequency and phenotype in 76 patients. (24698313)
2014
2
Falls in patients with HTLV-I-associated myelopathy/tropical spastic paraparesis (HAM/TSP). (23165507)
2013
3
Use of intrathecal clonidine in patients with multiple sclerosis or spastic paraparesis. (22057402)
2012
4
Possible implication of NFKB1A and NKG2D genes in susceptibility to HTLV-1-associated myelopathy/tropical spastic paraparesis in Peruvian patients infected with HTLV-1. (22170554)
2012
5
HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP): still an obscure disease. (22300227)
2011
6
Prevalence of peripheral neuropathy in patients with HTLV-1 associated myelopathy/tropical spastic paraparesis (HAM/TSP). (21510232)
2011
7
Amygdala size reduction is associated with memory deficits in complicated hereditary spastic paraparesis: an MRI study. (20664204)
2010
8
Two Babinski signs in seropositive (HAM) and seronegative tropical spastic paraparesis. (18949264)
2008
9
Presence of tropical spastic paraparesis/human T-cell lymphotropic virus type 1-associated myelopathy (TSP/HAM)-like among HIV-1-infected patients. (18205234)
2008
10
Low risk of tropical spastic paraparesis/human T lymphotropic virus type 1-associated myelopathy development among persons aged >50 years. (18680397)
2008
11
Treatment of postpartum depression with psychotic features in a patient with tropical spastic paraparesis. (18413682)
2008
12
Abnormal corticospinal tract modulation of the soleus H reflex in patients with pure spastic paraparesis. (18434014)
2008
13
Lack of tax diversity for tropical spastic paraparesis/human T-cell lymphotropic virus type 1 (HTLV-I) associated myelopathy development in HTLV-I-infected subjects in SALo Paulo, Brazil. (16862321)
2006
14
Involvement of p38 MAPK signaling pathway in IFN-gamma and HTLV-I expression in patients with HTLV-I-associated myelopathy/tropical spastic paraparesis. (15652420)
2005
15
A prospective uncontrolled trial of fermented milk drink containing viable Lactobacillus casei strain Shirota in the treatment of HTLV-1 associated myelopathy/tropical spastic paraparesis. (15961107)
2005
16
A novel presenilin-1 mutation (Leu85Pro) in early-onset Alzheimer disease with spastic paraparesis. (15534188)
2004
17
Cyclosporine-induced reversible pure motor spastic paraparesis in a patient with aplastic anaemia. (12568232)
2002
18
Tropical spastic paraparesis: an old disease with a new name. (11176945)
2001
19
Friedreich's ataxia presenting as an isolated spastic paraparesis. (11688498)
2001
20
Clinical and pathologic findings in hereditary spastic paraparesis with spastin mutation. (11148263)
2001
21
Tropical spastic paraparesis. (11928898)
2001
22
Mutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesis. (11015453)
2000
23
Hereditary spastic paraparesis: a review of new developments. (10896685)
2000
24
Flow cytometric differentiation of Asian and Western types of multiple sclerosis, HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP) and hyperIgEaemic myelitis by analyses of memory CD4 positive T cell subsets and NK cell subsets. (10967179)
2000
25
Involvement of IL-15 in the pathogenesis of human T lymphotropic virus type I-associated myelopathy/tropical spastic paraparesis: implications for therapy with a monoclonal antibody directed to the IL-2/15R beta receptor. (10491011)
1999
26
On the etiology of tropical spastic paraparesis and human T-cell lymphotropic virus-I-associated myelopathy. (10460931)
1999
27
Spastic paraparesis in alcoholic cirrhosis with portal systemic encephalopathy. (11273332)
1998
28
A case of Machado-Joseph disease presenting with spastic paraparesis. (9153623)
1997
29
Twenty-five years of HTLV type II follow-up with a possible case of tropical spastic paraparesis in the Kayapo, a Brazilian Indian tribe. (8947297)
1996
30
The association of antibodies against human T cell lymphotropic virus type I (HTLV-I) pX gene mutant products with HTLV-I-associated myelopathy/tropical spastic paraparesis. (8627062)
1996
31
Nucleotide sequences of human T-lymphotropic virus type I (HTLV-I) from a family cluster with tropical spastic paraparesis/HTLV-I-associated myelopathy. (7638441)
1995
32
Human T lymphotropic virus type I (HTLV-I)-associated myelopathy/tropical spastic paraparesis (HAM/TSP): recent perspectives. (8563108)
1995
33
Folliculitis decalvans and human T cell lymphotropic virus type I-associated myelopathy/tropical spastic paraparesis. (7756498)
1995
34
Tropical spastic paraparesis/HTLV-I associated myelopathy. Etiology and clinical spectrum. (7999314)
1994
35
HTLV-1 infection and tropical spastic paraparesis in Esmeraldas Province of Ecuador. (7570816)
1994
36
Urinary dysfunction in tropical spastic paraparesis: preliminary urodynamic survey. (8345613)
1993
37
Neuroaxonal dystrophy in HTLV-1-associated myelopathy/tropical spastic paraparesis: neuropathologic and neuroimmunologic correlations. (8213080)
1993
38
Spastic paraparesis of obscure origin. A case-control study of HTLV-I positive and negative patients from Rio de Janeiro, Brazil. (8336163)
1993
39
Activated, HTLV-1-specific cytotoxic T-lymphocytes are found in healthy seropositives as well as in patients with tropical spastic paraparesis. (1374983)
1992
40
Establishment of T-lymphoid cell lines from Morroccan patients with tropical spastic paraparesis. (1520534)
1992
41
Spastic paraparesis associated with portal-systemic venous shunting due to congenital hepatic fibrosis. (1579253)
1992
42
Transmission of human T-cell leukemia virus type I from a patient with HTLV-I associated myelopathy/tropical spastic paraparesis and an asymptomatic carrier to rabbits. (1712582)
1991
43
Neopterin in cerebrospinal fluid: a useful marker for diagnosis of HTLV-I-associated myelopathy/tropical spastic paraparesis. (2006023)
1991
44
Tropical spastic paraparesis and HTLV-I myelopathy: clinical features and pathogenesis. (2183307)
1990
45
High human T-cell lymphotropic virus type I proviral DNA load with polyclonal integration in peripheral blood mononuclear cells of French West Indian, Guianese, and African patients with tropical spastic paraparesis. (1967218)
1990
46
Tropical spastic paraparesis and human T cell lymphotropic virus type 1 in the United Kingdom. (2775992)
1989
47
T-cell lymphoma, tropical spastic paraparesis, and malignant fibrous histiocytoma in a patient with human T-cell lymphotropic virus, type 1. (2536259)
1989
48
HTLV-1 associated tropical spastic paraparesis in an African patient residing in Belgium. (2730175)
1989
49
Tropical spastic paraparesis: lack of human T-lymphotropic virus type I antibodies in blood donors from Bogota, Colombia. (2829802)
1988
50
Tropical spastic paraparesis: clinical, immunological, and virological studies in two patients from Martinique. (2894805)
1988

Variations for Spastic Paraparesis

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Expression for genes affiliated with Spastic Paraparesis

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Expression patterns in normal tissues for genes affiliated with Spastic Paraparesis

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Pathways for genes affiliated with Spastic Paraparesis

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Pathways related to Spastic Paraparesis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Cytoskeleton remodeling Neurofilaments60
9.5NEFH, NEFL
2
Show member pathways
Amyotrophic lateral sclerosis (ALS)37
9.5NEFH, NEFL
39.2PSEN1, NEFH, NEFL

Compounds for genes affiliated with Spastic Paraparesis

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Sources:
44Novoseek, 24HMDB
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Compounds related to Spastic Paraparesis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1superoxide44 2410.2PSEN1, NEFH, NEFL
2ionomycin448.8TNFRSF4, PSEN1, CNTN2, CD274
3oxygen44 249.1CX3CR1, PSEN1, CNTN2, KLRK1
4retinoic acid44 249.0NEFL, PSEN1, CNTN2, KLRK1

GO Terms for genes affiliated with Spastic Paraparesis

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Cellular components related to Spastic Paraparesis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1neurofilamentGO:0058839.5NEFH, NEFL
2cell surfaceGO:0099869.3CNTN2, PSEN1, TNFRSF4
3axonGO:0304249.1PSEN1, NEFH, NEFL
4integral component of plasma membraneGO:0058878.4TNFRSF4, CX3CR1, PSEN1, CNTN2

Biological processes related to Spastic Paraparesis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1neuron migrationGO:0017649.7CNTN2, PSEN1
2neurofilament bundle assemblyGO:0336939.6NEFH, NEFL
3microtubule cytoskeleton organizationGO:0002269.5NEFH, CNTN2
4cerebral cortex cell migrationGO:0217959.5PSEN1, CX3CR1
5cellular defense responseGO:0069689.2CX3CR1, TNFRSF4

Molecular functions related to Spastic Paraparesis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1structural constituent of cytoskeletonGO:0052009.5NEFH, NEFL
2protein binding, bridgingGO:0306749.2NEFH, NEFL

Products for genes affiliated with Spastic Paraparesis

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Sources for Spastic Paraparesis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet