MCID: ATX004
MIFTS: 56

Ataxia malady

Summaries for Ataxia

Sources:
44NINDS, 64Wikipedia, 33MalaCards
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NINDS:44 Ataxia often occurs when parts of the nervous system that control movement are damaged. People with ataxia experience a failure of muscle control in their arms and legs, resulting in a lack of balance and coordination or a disturbance of gait. While the term ataxia is primarily used to describe this set of symptoms, it is sometimes also used to refer to a family of disorders. It is not, however, a specific diagnosis.

MalaCards: Ataxia is related to spinocerebellar ataxia and ataxia telangiectasia. An important gene associated with Ataxia is ATXN2 (ataxin 2), and among its related pathways are Cyclins and Cell Cycle Regulation and DNA Damage Induced 14-3-3Sigma Signaling. The compounds glutamine and vitamin-e have been mentioned in the context of this disorder. Affiliated tissues include whole blood, thymus and brain, and related mouse phenotypes are nervous system and behavior/neurological.

Wikipedia:64 Ataxia (from Greek α- [a negative prefix] + -τάξις [order] = \"lack of order\"), is a neurological... more...

Aliases & Classifications for Ataxia

Sources:
44NINDS
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Aliases & Descriptions:

ataxia 44


Related Diseases for Ataxia

Sources:
17GeneCards, 18GeneDecks
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Diseases in the early-onset ataxia with oculomotor apraxia and hypoalbuminemia family:

ataxia with oculomotor apraxia type 2 ataxia with oculomotor apraxia type 1
ataxia neuropathy spectrum ataxia

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

(show top 50)    (show all 823)
idRelated DiseaseScoreTop Affiliating Genes
1spinocerebellar ataxia31.8KCNA1, PPP2R2B, ATXN2, ATXN7, ATXN3, ATXN10
2ataxia telangiectasia31.7APTX, ATR, ATM, TRIM29, SETX
3friedreich ataxia31.6ATXN2, ATXN3, ATXN1, TTPA, FXN, SETX
4hereditary ataxia31.2PPP2R2B, ATXN2, ATXN7, ATXN3, ATXN1, FXN
5apraxia30.9APTX, ATM, TTPA, FXN, SETX
6olivopontocerebellar atrophy30.8ATXN1, ATXN3
7infantile onset spinocerebellar ataxia30.7SACS, ATCAY
8spinocerebellar degeneration30.6ATXN2, ATXN3, ATXN1
9ataxia with vitamin e deficiency30.6SETX, FXN, TTPA, APTX
10spinocerebellar ataxia type 330.6ATXN3
11spinocerebellar ataxia type 730.3ATXN2, ATXN7
12huntington's disease30.3ATXN7, ATXN3, ATXN1
13axonal neuropathy30.3ATCAY
14spinocerebellar ataxia type 1230.3PPP2R2B, ATXN2, ATXN7, ATXN3, ATXN1
15spinocerebellar ataxia type 1730.2PPP2R2B, ATXN2, ATXN7, ATXN3, ATXN1
16dentatorubral-pallidoluysian atrophy30.2PPP2R2B, ATXN2, ATXN7, ATXN3, ATXN1
17dysphagia29.8ATXN1, ATXN3
18episodic ataxia10.8
19tremor10.7
20n syndrome10.6
21machado-joseph disease10.6
22spinocerebellar atrophy10.5
23myoclonus10.5
24arsacs10.5
25early-onset ataxia with oculomotor apraxia and hypoalbuminemia10.5
26mental retardation10.5
27spinocerebellar ataxia type 610.4
28nijmegen breakage syndrome10.4
29cerebellar degeneration10.3
30neuropathy ataxia retinitis pigmentosa syndrome10.3
31ataxia-telangiectasia variant10.3
32spinocerebellar ataxia autosomal recessive 110.3
33ataxia neuropathy spectrum10.3
34harding ataxia10.3
35hemiplegic migraine10.3
36x-linked sideroblastic anemia with ataxia10.3
37retinitis pigmentosa10.3
38episodic ataxia type 110.3
39prickle1-related progressive myoclonus epilepsy with ataxia10.3
40posterior column ataxia10.3
41episodic ataxia type 210.3
42spinocerebellar ataxia type 1510.3
43cerebellar ataxia and hypogonadotropic hypogonadism10.3
44spinocerebellar ataxia 1910.3
45autosomal recessive cerebellar ataxia type 110.3
46myokymia10.2
47parkinson's disease10.2
48posterior column ataxia with retinitis pigmentosa10.2
49cataract ataxia deafness10.2
50spinocerebellar ataxia autosomal recessive 410.2

Graphical network of the top 20 diseases related to Ataxia:



Diseases related to ataxia

Clinical Features for Ataxia

Drugs & Therapeutics for Ataxia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Ataxia

Drug clinical trials:

Search ClinicalTrials for Ataxia

Search NIH Clinical Center for Ataxia

Search CenterWatch for Ataxia

Genetic Tests for Ataxia

Anatomical Context for Ataxia

Sources:
33MalaCards
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MalaCards organs/tissues related to Ataxia:

33
Whole blood, Thymus, Brain, Cortex, Cerebellum, Retina, Spinal cord, Heart, Smooth muscle, Skeletal muscle, Small intestine, Colon, Kidney, Liver, Lung, Pancreas, Thyroid, Adrenal gland, Breast, Skin, Ovary, Prostate, Testis, Myeloid, T cells, B lymphoblasts, B cells, Endothelial, Prefrontal cortex, Parietal lobe, Temporal lobe, Cerebellum peduncles, Globus pallidus, Olfactory bulb, Hypothalamus, Medulla oblongata, Dorsal root ganglion, Trigeminal ganglion, Cardiac myocytes, Tongue, Bronchial epithelium, Adrenal cortex, Pituitary, Testis germ

Animal Models for Ataxia or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Ataxia

Sources:
51PubMed
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Articles related to Ataxia:

(show top 50)    (show all 3757)
idTitleAuthorsYear
1
Beyond loss of frataxin: the complex molecular pathology of Friedreich ataxia. (24411698)
2014
2
Case of infantile onset spinocerebellar ataxia type 5. (22914369)
2013
3
Broad Therapeutic Benefit After RNAi Expression Vector Delivery to Deep Cerebellar Nuclei: Implications for Spinocerebellar Ataxia Type 1 Therapy. (24419082)
2013
4
Novel SETX variants in a patient with ataxia, neuropathy, and oculomotor apraxia are associated with normal sensitivity to oxidative DNA damaging agents. (24183476)
2013
5
Rapidly progressive dementia and ataxia in an elderly man. (23487816)
2013
6
Inherited cerebellar ataxia in childhood: a pattern-recognition approach using brain MRI. (22595899)
2013
7
Increased prevalence of sleep-disordered breathing in Friedreich ataxia. (23700333)
2013
8
Malignant pleural mesothelioma in a child with ataxia-telangiectasia. (22511568)
2013
9
Stimulus-sensitive myoclonus and cerebellar ataxia following chikungunya meningoencephalitis. (23355353)
2013
10
Locomotion speed determines gait variability in cerebellar ataxia and vestibular failure. (21997342)
2012
11
Novel compound heterozygous mutations of the SACS gene in autosomal recessive spastic ataxia of Charlevoix-Saguenay. (22209141)
2012
12
Spinocerebellar ataxia type 1. (21827903)
2012
13
Mitochondrial recessive ataxia syndrome mimicking dominant spinocerebellar ataxia. (22166854)
2012
14
Posterior column ataxia with retinitis pigmentosa in a Japanese family with a novel mutation in FLVCR1. (21267618)
2011
15
Spinocerebellar ataxia type 15: diagnostic assessment, frequency, and phenotypic features. (21367767)
2011
16
Ataxia telangiectasia: the consequences of a delayed diagnosis. (21354641)
2011
17
Recurrent acute cerebellar ataxia associated with anti-cardiolipin antibodies. (19703737)
2010
18
Infantile nystagmus and late onset ataxia associated with a CACNA1A mutation in the intracellular loop between s4 and s5 of domain 3. (19182766)
2009
19
Opsoclonus-myoclonus-ataxia syndrome and HIV seroconversion. (19252789)
2009
20
Hemorrhagic cystitis in a child with Hodgkin lymphoma and ataxia-telangiectasia after cyclophosphamide. (19418546)
2009
21
Pharmacotherapy for Friedreich ataxia. (19320530)
2009
22
Episodic ataxia type 2 showing ictal hyperhidrosis with hypothermia and interictal chronic diarrhea due to a novel CACNA1A mutation. (18602318)
2009
23
Episodic ataxia associated with EAAT1 mutation C186S affecting glutamate reuptake. (19139306)
2009
24
The zinc-binding domain of Nna1 is required to prevent retinal photoreceptor loss and cerebellar ataxia in Purkinje cell degeneration (pcd) mice. (18602413)
2008
25
Autosomal recessive ataxia caused by three distinct gene defects in a single consanguineous family. (18569450)
2008
26
Cognitive profile of fragile X premutation carriers with and without fragile X-associated tremor/ataxia syndrome. (18211155)
2008
27
New insights into the pathoanatomy of spinocerebellar ataxia type 3 (Machado-Joseph disease). (18317266)
2008
28
Cerebellar ataxia in sheep grazing pastures infested with Romulea rosea (onion grass or Guildford grass). (18782418)
2008
29
Repair of potentially lethal damage in normal cells and ataxia telangiectasia cells; consideration of non-homologous end-joining. (17132914)
2007
30
Betamethasone and improvement of neurological symptoms in ataxia-telangiectasia. (17030666)
2006
31
Spinocerebellar ataxia type 15. (15895559)
2005
32
Spinocerebellar ataxia type 17: extension of phenotype with putaminal rim hyperintensity on magnetic resonance imaging. (16037935)
2005
33
Late-onset episodic ataxia type 2 due to an in-frame insertion in CACNA1A. (16186543)
2005
34
Private SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) families from Turkey. (15156359)
2004
35
Spinocerebellar ataxia type 8: molecular genetic comparisons and haplotype analysis of 37 families with ataxia. (15152344)
2004
36
Five haplotypes account for fifty-five percent of ATM mutations in Brazilian patients with ataxia telangiectasia: seven new mutations. (15039971)
2004
37
Spinocerebellar ataxia type 6: channelopathy or glutamine repeat disorder? (11719255)
2001
38
Superficial siderosis of the central nervous system: a 70-year-old man with ataxia, depression and visual deficits. (11287734)
2001
39
Vergence disorders in patients with spinocerebellar ataxia 3/Machado-Joseph disease: a synoptophore study. (10675655)
2000
40
Hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses: a report on the first white patient. (10068051)
1999
41
Location score and haplotype analyses of the locus for autosomal recessive spastic ataxia of Charlevoix-Saguenay, in chromosome region 13q11. (10053011)
1999
42
Friedreich's ataxia and hereditary vitamin E deficiency. Case study]. (9773063)
1998
43
Progressive ataxia due to a missense mutation in a calcium-channel gene. (9345107)
1997
44
Ataxia telangiectasia mutant protein activates c-Abl tyrosine kinase in response to ionizing radiation. (9168116)
1997
45
Autosomal dominant cerebellar ataxia type I clinical features and MRI in families with SCA1, SCA2 and SCA3. (8931575)
1996
46
Neoplastic meningitis presenting with ophthalmoplegia, ataxia, and areflexia (Miller-Fisher syndrome) (7733836)
1995
47
Friedreich's ataxia: a defect in signal transduction? (7581382)
1995
48
Megalencephaly with dysmyelination, spasticity, ataxia, seizures and distinctive neurophysiological findings in two siblings. (2234324)
1990
49
Pure axonal neuropathy: nerve xenografts and clinicopathological study of a family with peripheral neuropathy, hereditary ataxia, focal necrotizing encephalopathy, and spongy degeneration of brain. (6252824)
1980
50
Structural changes of the central nervous system in swayback (enzootic ataxia) of lambs. IV. Electron microscopy of the white matter of the spinal cord. (5751529)
1968

Genetic Variations for Ataxia

Expression for genes affiliated with Ataxia

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Ataxia

Search GEO for disease gene expression data for Ataxia.

Pathways for genes affiliated with Ataxia

Sources:
52QIAGEN, 54Reactome, 12EMD Millipore
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Pathways related to Ataxia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
11.1ATM, ATR, PPP2R2B
210.9ATM, ATR
3
Hide members
10.9ATM, ATR
410.9ATM, ATR

Compounds for genes affiliated with Ataxia

Sources:
45Novoseek, 50PharmGKB, 29IUPHAR, 2BitterDB, 11DrugBank, 24HMDB, 60Tocris Bioscience
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Compounds related to Ataxia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1glutamine4511.8TTPA, ATXN1, ATXN3, ATXN7, ATM, ATXN2
2vitamin-e4511.4APTX, TTPA, FXN, SETX
3alpha tocopherol4511.3APTX, TTPA, FXN, SETX
4caffeine45 50 29 2 11 2416.1ATM, ATR, ITPR1
5polyacrylamide4510.9ATXN2, ATM, ATXN7, ATXN3
6ku 559336010.9ATM, ATR
7ku 600196010.8ATM, ATR

GO Terms for genes affiliated with Ataxia

Sources:
16Gene Ontology
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Cellular components related to Ataxia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytoplasmGO:00573712.4APTX, ATCAY, ATXN2, ATXN7, ATXN3, ATXN10
2nucleoplasmGO:00565411.3APTX, ATR, ATM, ATXN3, ATXN1, SETX
3dendriteGO:03042511.3ATXN10, ATCAY, SACS, KCNA1
4nuclear matrixGO:01636311.0ATXN7, ATXN3, ATXN1
5nuclear inclusion bodyGO:04240510.9ATXN1, ATXN3

Biological processes related to Ataxia according to GeneCards/GeneDecks:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1cell deathGO:00821912.8TGM6, SACS, APTX, ATXN2, ATXN7, ATXN3
2double-strand break repairGO:00630211.3SETX, ATM, APTX
3peptidyl-serine phosphorylationGO:01810511.2ATR, ATM, TTBK2
4response to DNA damage stimulusGO:00697411.1ATM, ATR, APTX
5negative regulation of insulin-like growth factor receptor signaling pathwayGO:04356911.0ATXN1, ATXN7
6replicative senescenceGO:09039911.0ATM, ATR
7positive regulation of DNA damage response, signal transduction by p53 class mediatorGO:04351710.9ATR, ATM
8negative regulation of multicellular organism growthGO:04001510.9ATXN2, FXN
9cellular response to gamma radiationGO:07148010.8ATM, ATR
10negative regulation of phosphorylationGO:04232610.6ATXN1, ATXN7

Molecular functions related to Ataxia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:00551513.4FXN, APTX, PPP2R2B, ITPR1, ATCAY, ATR

Products for genes affiliated with Ataxia

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Sources for Ataxia

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet