MCID: CRB042
MIFTS: 66

Cerebellar Ataxia malady

Neuronal diseases, Eye diseases, Metabolic diseases, Blood diseases categories

Summaries for Cerebellar Ataxia

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63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 Cerebellar ataxia is a form of ataxia originating in the cerebellum. more...

MalaCards: Cerebellar Ataxia, also known as hereditary ceruloplasmin deficiency, is related to neuropathy and spinocerebellar ataxia, and has symptoms including troubles of memory/amnesia/hypermnesia, elocution disorders/dysarthria/dysphonia and hypothyroidy. An important gene associated with Cerebellar Ataxia is CP (ceruloplasmin (ferroxidase)). The compounds glutamine and vitamin-e have been mentioned in the context of this disorder. Affiliated tissues include cerebellum, brain and eye, and related mouse phenotypes are behavior/neurological and nervous system.

Description from OMIM:46 604290

Aliases & Classifications for Cerebellar Ataxia

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8Disease Ontology, 9diseasecard, 46OMIM, 10DISEASES, 48Orphanet, 30LifeMap Discovery™, 60UMLS, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases
Anatomical: Neuronal diseases, Eye diseases, Blood diseases


Characteristics (Orphanet epidemiological data):

48
hereditary ceruloplasmin deficiency:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000; Age of onset: Adulthood; Age of death: Elderly


Aliases & Descriptions:

cerebellar ataxia 8 9 46 10 30
hereditary ceruloplasmin deficiency 48
ceruloplasmin deficiency 60
aceruloplasminemia 48


External Ids:

Disease Ontology8 DOID:0050753
OMIM46 604290
ICD10 via Orphanet26 G23.0

Related Diseases for Cerebellar Ataxia

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17GeneCards, 18GeneDecks
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Diseases related to Cerebellar Ataxia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 261)
idRelated DiseaseScoreTop Affiliating Genes
1neuropathy30.8SETX, SACS
2spinocerebellar ataxia30.8ATXN1, ATN1, ATXN7, ATXN2
3hereditary ataxia30.7ATXN1, ATN1, ATXN7, ATXN2
4multiple system atrophy30.5ATXN1
5olivopontocerebellar atrophy30.5ATXN1, ATN1
6peripheral neuropathy30.4APTX
7apraxia30.4SETX, APTX
8retinal degeneration30.4NPHP1, ATXN7, PAX6, CP
9dementia30.3CP
10spinocerebellar ataxia type 730.3ATXN2, ATXN7
11axonal neuropathy30.1ATCAY
12ophthalmoplegia30.1ATXN7
13spinocerebellar degeneration30.1ATXN1, ATXN2
14friedreich ataxia29.9SACS, APTX, ATXN2, ATXN1, ABCB7, SETX
15spinocerebellar ataxia type 329.9ATXN2, ATXN7, ATN1, ATXN1
16dentatorubral-pallidoluysian atrophy29.9ATXN1, ATN1, ATXN2
17huntington's disease29.9CP, ATXN1, ATN1, ATXN7
18ataxia with vitamin e deficiency29.9SETX, APTX
19schizophrenia29.9CP, PAX6, DNMT1, ATXN1, ATN1
20aceruloplasminemia10.9
21cerebellar disease10.8
22hemosiderosis10.5
23hypogonadism10.5
24aniridia10.4
25renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia10.4
26autosomal recessive cerebellar ataxia type 110.4
27neuronitis10.4
28malaria10.4
29harding ataxia10.4
30cataract10.4
31cerebellar ataxia ectodermal dysplasia10.4
32renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial dna10.4
33familial hemiplegic migraine10.3
34migraine10.3
35retinitis10.3
36myoclonus cerebellar ataxia deafness10.3
37parkinson's disease10.3
38machado-joseph disease10.3
39autosomal dominant disease10.3
40aniridia, cerebellar ataxia and mental deficiency10.3
41cerebellar ataxia and hypogonadotropic hypogonadism10.3
42cerebellar ataxia, nonprogressive, with mental retardation10.3
43spinocerebellar ataxia, autosomal recessive 1310.3
44cerebellar ataxia, deafness, and narcolepsy, autosomal dominant10.3
45autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit10.3
46ataxia telangiectasia10.3
47celiac disease10.3
48stiff-person syndrome10.3
49encephalitis10.3
50syne1-related autosomal recessive cerebellar ataxia10.3

Graphical network of the top 20 diseases related to Cerebellar Ataxia:



Diseases related to cerebellar ataxia

Clinical Features for Cerebellar Ataxia

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

604290

Clinical synopsis from OMIM:

604290

Symptoms:

48 (show all 20)
  • troubles of memory/amnesia/hypermnesia
  • elocution disorders/dysarthria/dysphonia
  • hypothyroidy
  • heart/cardiac failure
  • pollakiuria/polyuria/dysuria/anuria/acute urine retention/oliguria
  • diabetes mellitus
  • tremor
  • chorea/athetosis/choreoathetosis/choreic syndrome
  • anaemia
  • hyperferritinemia/iron overload
  • autosomal recessive inheritance
  • ataxia/incoordination/trouble of the equilibrium
  • dystonia/torticollis/writer's cramp/blepharospasms
  • execution movement disorder/dysmetria/bradykinesia/akinesia/apraxia
  • hypertonia/spasticity/rigidity/stiffness
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • psychic/psychomotor regression/dementia/intellectual decline
  • psychic/behavioural troubles
  • humour troubles/anxiety/depression/apathy/euphoria/irritability
  • retinopathy

Drugs & Therapeutics for Cerebellar Ataxia

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 30LifeMap Discovery™
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Approved drugs:

Search CenterWatch for Cerebellar Ataxia

Drug clinical trials:

Search ClinicalTrials for Cerebellar Ataxia

Search NIH Clinical Center for Cerebellar Ataxia

Search CenterWatch for Cerebellar Ataxia

Cell-based therapeutics:


LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine
Read about Cerebellar Ataxia cell therapies at LifeMap Discovery.

Genetic Tests for Cerebellar Ataxia

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Anatomical Context for Cerebellar Ataxia

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Sources:
30LifeMap Discovery™, 32MalaCards
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MalaCards organs/tissues related to Cerebellar Ataxia:

32
Cerebellum, Brain, Eye, Testes, Heart, Lung, Thyroid, Skin, T cells, Thymus, Cortex, Retina, Liver, Breast

LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine

Cells/anatomical compartments in embryo or adult related to Cerebellar Ataxia:
id TissueAnatomical CompartmentCell Relevance
1 AdiposeSubcutaneous White AdiposeMesenchymal Stem Cells Potential therapeutic candidate
2 AdiposeSubcutaneous White AdiposeStromal Cells Potential therapeutic candidate

Animal Models for Cerebellar Ataxia or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Cerebellar Ataxia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000538610.9CP, ATXN2, ATCAY, ATXN7, ATN1, ATXN1
2MP:000363110.9CP, PAX6, ATXN2, ATXN7, ATN1, ATXN1
3MP:000537810.8ATXN2, PAX6, ABCB7, DNMT1, SYNE1, ATXN1
4MP:001076810.8ATXN2, ATXN7, ATN1, ATXN1, SYNE1, DNMT1
5MP:000537610.7ATXN2, DNMT1, ABCB7, PAX6, ALAS2, CP
6MP:000538910.4ATXN2, ATXN7, ATN1, DNMT1, PAX6, ATCAY

Publications for Cerebellar Ataxia

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50PubMed
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Articles related to Cerebellar Ataxia:

(show top 50)    (show all 679)
idTitleAuthorsYear
1
Acute cerebellar ataxia following meningococcal group C conjugate vaccination. (23275434)
2014
2
Association of acute cerebellar ataxia and human papilloma virus vaccination: a case report. (23378179)
2013
3
A homozygote for the c.459+1G>A mutation in the ARSA gene presents with cerebellar ataxia as the only first clinical sign of metachromatic leukodystrophy. (24411407)
2013
4
Cerebellar soluble mutant ataxin-3 level decreases during disease progression in Spinocerebellar Ataxia Type 3 mice. (23626768)
2013
5
Locomotion speed determines gait variability in cerebellar ataxia and vestibular failure. (21997342)
2012
6
Autoimmunity as a prognostic factor in sporadic adult onset cerebellar ataxia. (21984193)
2012
7
Acquired cerebellar ataxia due to statin use. (22311222)
2012
8
Cerebellar ataxia rehabilitation trial in degenerative cerebellar diseases. (22140200)
2012
9
Plasmodium falciparum malaria, bilateral sixth cranial nerve palsy and delayed cerebellar ataxia. (22421613)
2012
10
Acute cerebellar ataxia in lupus. (21669912)
2011
11
Loss of intrinsic organization of cerebellar networks in spinocerebellar ataxia type 1: correlates with disease severity and duration. (20886327)
2011
12
Spinocerebellar ataxia type 10: disproportionate cerebellar symptoms among at-risk subjects induced by small amounts of alcohol. (22042193)
2011
13
Brain H-MR spectroscopy in anti-GAD antibodies cerebellar ataxia. (20378175)
2010
14
Raltegravir-induced cerebellar ataxia. (20980871)
2010
15
Clinico-pathological findings in a patient with progressive cerebellar ataxia, autoimmune polyendocrine syndrome, hepatocellular carcinoma and anti-GAD autoantibodies. (20056249)
2010
16
Antineuronal antibodies in sporadic late-onset cerebellar ataxia. (19629562)
2010
17
Cerebellar ataxia with elevated cerebrospinal free sialic acid (CAFSA). (19153153)
2009
18
Cerebellar Ataxia and Overactive Bladder after Encephalitis Affecting the Cerebellum. (20847832)
2009
19
Fatal worsening of late-onset cerebellar ataxia with neuronal intranuclear inclusions due to superimposed meningeal Rosai-Dorfman disease. (18546340)
2008
20
Anti-Ca2+ channel antibody attenuates Ca2+ currents and mimics cerebellar ataxia in vivo. (18272482)
2008
21
Cerebellar ataxia in sheep grazing pastures infested with Romulea rosea (onion grass or Guildford grass). (18782418)
2008
22
Paraneoplastic cerebellar ataxia due to burnt-out testicular germ cell tumour? (17218768)
2007
23
Clinical, biochemical and molecular aspects of cerebellar ataxia and Coenzyme Q10 deficiency. (17510911)
2007
24
The syndrome of (predominantly cervical) dystonia and cerebellar ataxia: new cases indicate a distinct but heterogeneous entity. (17158558)
2007
25
Cerebellar ataxia and congenital disorder of glycosylation Ia (CDG-Ia) with normal routine CDG screening. (17694350)
2007
26
Cerebellar ataxia, peripheral neuropathy, "gluten sensitivity" and anti-neuronal autoantibodies. (17175889)
2006
27
The role of buspirone for the treatment of cerebellar ataxia in an older individual. (16278493)
2005
28
An autosomal recessive cerebellar ataxia syndrome with upward gaze palsy, neuropathy, and seizures. (15642921)
2005
29
Mutations in SIL1 cause Marinesco-Sjoegren syndrome, a cerebellar ataxia with cataract and myopathy. (16282977)
2005
30
Increased cerebellar PET glucose metabolism corresponds to ataxia in Wernicke-Korsakoff syndrome. (14998834)
2004
31
Cerebellar ataxia in pediatric patients with Langerhans cell histiocytosis. (15543008)
2004
32
Pure cerebello-olivary degeneration of Marie, Foix, and Alajouanine presenting with progressive cerebellar ataxia, cognitive decline, and chorea. (14673899)
2003
33
Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia. (12644968)
2003
34
Major Depressive Disorder - A co-morbid condition in a case of spino-cerebellar ataxia with writer's cramp. (21206871)
2003
35
Intravenous immunoglobulin therapy for acute cerebellar ataxia. (12801122)
2003
36
Idiopathic late onset cerebellar ataxia in a case of Takayasu's arteritis. (11447458)
2001
37
Presynaptic inhibition of cerebellar GABAergic transmission by glutamate decarboxylase autoantibodies in progressive cerebellar ataxia. (11181864)
2001
38
Paraneoplastic optic neuropathy and cerebellar ataxia with small cell carcinoma of the lung. (11725180)
2001
39
Acute disseminated encephalomyelitis--another cause of post malaria cerebellar ataxia. (11573566)
2001
40
Linkage to chromosome 13q11-12 of an autosomal recessive cerebellar ataxia in a Tunisian family. (10751248)
2000
41
Cerebellar Ataxia. (11096749)
2000
42
Genetic background of apparently idiopathic sporadic cerebellar ataxia. (11030410)
2000
43
Ataxia and abnormal cerebellar microorganization in mice with ablated contactin gene expression. (10595523)
1999
44
Cerebellar allografts survive and transiently alleviate ataxia in a transgenic model of spinocerebellar ataxia type-1. (10415138)
1999
45
Severe chronic active Epstein-Barr virus infection accompanied by virus-associated hemophagocytic syndrome, cerebellar ataxia and encephalitis. (9766697)
1998
46
Cerebellar grafts partially reverse amino acid receptor changes observed in the cerebellum of mice with hereditary ataxia: quantitative autoradiographic studies. (9171167)
1997
47
Pure cerebellar ataxia phenotype in Machado-Joseph disease. (8649595)
1996
48
Cerebellar ataxia with recovery related to central pontine myelinolysis. (3171622)
1988
49
Autosomal recessive spino-olivo-cerebellar degeneration without ataxia. (6886703)
1983
50
Cerebellar ataxia, congenital cataracts, and retarded somatic and mental maturation. Report of cases of Marinesco-Sjogren syndrome. (14012309)
1962

Genetic Variations for Cerebellar Ataxia

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Expression for genes affiliated with Cerebellar Ataxia

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

Search GEO for disease gene expression data for Cerebellar Ataxia.

Pathways for genes affiliated with Cerebellar Ataxia

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Compounds for genes affiliated with Cerebellar Ataxia

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Sources:
44Novoseek, 24HMDB, 59Tocris Bioscience, 11DrugBank
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Compounds related to Cerebellar Ataxia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1glutamine4410.8ATN1, ATXN2, ATXN7, ATXN1, ALAS2, CP
2vitamin-e4410.7CP, SETX, ABCB7, APTX
3zinc44 2411.7DNMT1, CA8, ALAS2, CP, ABCB7, APTX
4testosterone44 59 11 2413.5CP, ABCB7, ATXN1, ATN1, SACS
5protoporphyrin ix44 11 2412.5ALAS2, ABCB7
6alpha tocopherol4410.3APTX, SETX, CP

GO Terms for genes affiliated with Cerebellar Ataxia

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

idNameGO IDScoreTop Affiliating Genes
1cytoplasmGO:00573710.8ATXN1, ATN1, ATXN2, SYNE1, ABCB7, PAX6
2nucleolusGO:00573010.7APTX, ATXN2, ATXN7, ATXN1, SYNE1, PAX6
3nuclear matrixGO:01636310.3ATXN1, ATN1, ATXN7

Biological processes related to Cerebellar Ataxia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cell deathGO:00821910.8ATXN7, ATP2B3, ATXN1, SYNE1, SETX, APTX
2nucleus organizationGO:00699710.5ATXN7, SYNE1
3negative regulation of phosphorylationGO:04232610.5ATXN1, ATXN7
4cellular iron ion homeostasisGO:00687910.5CP, ABCB7, ALAS2
5negative regulation of insulin-like growth factor receptor signaling pathwayGO:04356910.2ATXN1, ATXN7

Products for genes affiliated with Cerebellar Ataxia

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Sources for Cerebellar Ataxia

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet