MCID: CRB042
MIFTS: 57

Cerebellar Ataxia malady

Neuronal, Eye, Metabolic, Blood categories

Summaries for Cerebellar Ataxia

Sources:
64Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:64 Cerebellar ataxia is a form of ataxia originating in the cerebellum. more...

MalaCards: Cerebellar Ataxia, also known as hereditary ceruloplasmin deficiency, is related to spinocerebellar ataxia and hereditary ataxia, and has symptoms including retinopathy, pollakiuria/polyuria/dysuria/anuria/acute urine retention/oliguria and diabetes mellitus. 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. Related mouse phenotypes are behavior/neurological and nervous system.

Description from OMIM:47 604290

Aliases & Classifications for Cerebellar Ataxia

Sources:
49Orphanet, 8Disease Ontology, 9diseasecard, 47OMIM, 10DISEASES, 31LifeMap Discovery™, 61UMLS, 26ICD10 via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
hereditary ceruloplasmin deficiency:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000; Age of onset: Adulthood; Age of death: Elderly


Aliases & Descriptions:

cerebellar ataxia 8 9 47 10 31
hereditary ceruloplasmin deficiency 49
ceruloplasmin deficiency 61
aceruloplasminemia 49


External Ids:

Disease Ontology8 DOID:0050753
OMIM47 604290
ICD10 via Orphanet26 G23.0

Related Diseases for Cerebellar Ataxia

Sources:
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 262)
idRelated DiseaseScoreTop Affiliating Genes
1spinocerebellar ataxia30.8ATXN1, ATN1, ATXN7, ATXN2
2hereditary ataxia30.7ATXN1, ATN1, ATXN7, ATXN2
3olivopontocerebellar atrophy30.6ATXN1, ATN1
4apraxia30.5SETX, APTX
5axonal neuropathy30.2ATCAY
6spinocerebellar degeneration30.2ATXN1, ATXN2
7spinocerebellar ataxia type 729.9ATXN2, ATXN7
8spinocerebellar ataxia type 329.9ATXN2, ATXN7, ATN1, ATXN1
9dentatorubral-pallidoluysian atrophy29.9ATXN1, ATN1, ATXN2
10ataxia11.4
11aceruloplasminemia11.0
12mental retardation10.5
13n syndrome10.5
14cerebellar degeneration10.5
15myoclonus10.5
16aniridia10.4
17renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia10.4
18autosomal recessive cerebellar ataxia type 110.4
19cerebellar ataxia ectodermal dysplasia10.4
20renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial dna10.4
21tremor10.4
22hemosiderosis10.4
23hemiplegic migraine10.4
24machado-joseph disease10.3
25autosomal dominant disease10.3
26aniridia, cerebellar ataxia and mental deficiency10.3
27harding ataxia10.3
28cerebellar ataxia and hypogonadotropic hypogonadism10.3
29myoclonus cerebellar ataxia deafness10.3
30cerebellar ataxia, nonprogressive, with mental retardation10.3
31cerebellar ataxia, deafness, and narcolepsy, autosomal dominant10.3
32autosomal dominant cerebellar ataxia type 110.3
33parkinson's disease10.3
34familial hemiplegic migraine10.3
35celiac disease10.3
36stiff-person syndrome10.3
37syne1-related autosomal recessive cerebellar ataxia10.3
38aniridia mental retardation syndrome10.3
39cerebellar ataxia infantile with progressive external ophthalmoplegia10.3
40cerebellar ataxia, cayman type10.3
41macular dystrophy10.3
42cerebellar ataxia and mental retardation with or without quadrupedal locomotion 310.3
43cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 110.3
44cerebellar ataxia, mental retardation, and dysequilibrium syndrome 410.3
45cataract, congenital10.3
46cerebellar ataxia, mental retardation, and dysequilibrium syndrome 210.3
47narcolepsy10.2
48ataxia telangiectasia10.2
49lyme disease10.2
50progressive supranuclear palsy10.2

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



Diseases related to cerebellar ataxia

Clinical Features for Cerebellar Ataxia

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

604290

Clinical synopsis from OMIM:

604290

Symptoms:

49 (show all 20)
  • retinopathy
  • 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
  • heart/cardiac failure
  • hypothyroidy
  • elocution disorders/dysarthria/dysphonia
  • troubles of memory/amnesia/hypermnesia

Drugs & Therapeutics for Cerebellar Ataxia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 31LifeMap Discovery™
See all sources

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

Anatomical Context for Cerebellar Ataxia

Sources:
31LifeMap Discovery™
See all sources

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

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Cerebellar Ataxia

Sources:
51PubMed
See all sources

Articles related to Cerebellar Ataxia:

(show top 50)    (show all 679)
idTitleAuthorsYear
1
GABA-A receptor impairment in cerebellar ataxia with anti-glutamic acid decarboxylase antibodies. (24091766)
2013
2
Marked improvement in opsoclonus and cerebellar ataxia after the surgical removal of a squamous cell carcinoma of the thymus: a case report. (23235139)
2013
3
The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation. (24369382)
2013
4
Does a basic deficit in force control underlie cerebellar ataxia? (23175807)
2013
5
Rapidly progressive cerebellar ataxia in West Wales. (24265345)
2013
6
Idiopathic late-onset cerebellar ataxia with cerebellar atrophy in a patient diagnosed with Chiari I malformation: a case report. (23743765)
2013
7
Ocular-motor profile and effects of memantine in a familial form of adult cerebellar ataxia with slow saccades and square wave saccadic intrusions. (23894498)
2013
8
A de novo SCA14 mutation in an isolated case of late-onset cerebellar ataxia. (23853068)
2013
9
Gait ataxia--specific cerebellar influences and their rehabilitation. (24132845)
2013
10
Reversible cerebellar ataxia with thyrotoxicosis: An autoimmune brain disease in remission due to Graves' disease. (23869314)
2013
11
Linear and angular control of circular walking in healthy older adults and subjects with cerebellar ataxia. (22447250)
2012
12
Quantitative assessment of brain stem and cerebellar atrophy in spinocerebellar ataxia types 3 and 6: impact on clinical status. (21372168)
2011
13
Organotypic slices culture model for cerebellar ataxia: potential use to study Purkinje cell induction from neural stem cells. (21145378)
2011
14
An unusual case of familial ALS and cerebellar ataxia. (20540686)
2010
15
Cerebellar ataxia associated with neuroendocrine thymic carcinoma and GAD antibodies. (19448100)
2009
16
An 8-year-old boy with vertebral artery dissection with cerebellar ataxia featuring suspected vertebral artery hypoplasia. (18762394)
2009
17
Chromosome 16q22.1-linked autosomal dominant cerebellar ataxia: an autopsy case report with some new observations on cerebellar pathology. (18627481)
2009
18
Epilepsy and cerebellar ataxia associated with anti-glutamic acid decarboxylase antibodies. (21686528)
2009
19
Kinetic tremor and cerebellar ataxia as initial manifestations of Kikuchi-Fujimoto's disease. (19027125)
2009
20
Acute cerebellar ataxia in the Netherlands: a study on the association with vaccinations and varicella zoster infection. (19186201)
2009
21
Acute cerebellar ataxia associated with primary human herpesvirus-6 infection: a report of two cases. (19012639)
2008
22
CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures. (18319072)
2008
23
Progressive cerebellar ataxia with variable episodic symptoms--phenotypic diversity of R1668W CACNA1A mutation. (18437043)
2008
24
Mutations in the POLG1 gene are not a relevant cause of cerebellar ataxia in Italy. (18446310)
2008
25
Gluten sensitivity in Japanese patients with adult-onset cerebellar ataxia. (16508226)
2006
26
New autosomal recessive cerebellar ataxias with oculomotor apraxia. (16131425)
2005
27
Familial positional downbeat nystagmus and cerebellar ataxia: clinical and pathologic findings. (15827018)
2005
28
Cerebellar ataxia and acute motor axonal neuropathy associated with Anti GD1b and Anti GM1 antibodies. (16054817)
2005
29
Antibodies to cerebellar nerve fibres in two patients with paraneoplastic cerebellar ataxia. (16101129)
2005
30
Self-limiting cerebellar ataxia following organophosphate poisoning. (12693837)
2003
31
Spectrum of centrosome autoantibodies in childhood varicella and post-varicella acute cerebellar ataxia. (14503922)
2003
32
West Nile virus infection presenting as cerebellar ataxia and fever: case report. (12938789)
2003
33
Cerebellar ataxia and coenzyme Q10 deficiency. (12682339)
2003
34
Cerebellar ataxia as the presenting manifestation of Lyme disease. (12075773)
2002
35
Amantadine treatment in cerebellar ataxia. (11291986)
2001
36
Familial cerebellar ataxia with muscle coenzyme Q10 deficiency. (11294920)
2001
37
Rhythmic tremor of the palate and other cranial limb muscles, with cerebellar ataxia: consider Whipple's disease. (11481720)
2001
38
Cerebellar ataxia, anterior horn cell disease, learning difficulties, and dystonia: a new syndrome. (11104351)
2000
39
Familial Creutzfeldt-Jakob disease with D178N-129M mutation of PRNP presenting as cerebellar ataxia without insomnia. (10787305)
2000
40
Early onset cerebellar ataxia with retained tendon reflexes (EOCA) and olivopontocerebellar atrophy (OPCA): a computed tomographic study. (10625898)
1999
41
SCA6 mutation analysis in a large cohort of the Japanese patients with late-onset pure cerebellar ataxia. (9559993)
1998
42
Molecular genetic analysis of autosomal dominant cerebellar ataxia with retinal degeneration (ADCA type II) caused by CAG triplet repeat expansion. (9425224)
1998
43
Hereditary adult-onset Alexander's disease with palatal myoclonus, spastic paraparesis, and cerebellar ataxia. (8848205)
1995
44
The gene for Machado-Joseph disease maps to the same 3-cM interval as the spinal cerebellar ataxia 3 gene on chromosome 14q. (9216989)
1994
45
Cerebellar glutamate metabolizing enzymes in spinocerebellar ataxia type I. (7914669)
1994
46
Degenerative cerebellar ataxia and focal dystonia. (3211181)
1988
47
Gillespie's syndrome (incomplete aniridia, cerebellar ataxia and oligophrenia). (6544390)
1984
48
Acute cerebellar ataxia in pediatric legionellosis. (6646929)
1983
49
Cerebellar ataxia, polydactyly, syndactyly and aminoaciduria. (213416)
1978
50
Localized beta-galactosidase deficiency. Occurrence in cerebellar ataxia with myoclonus epilepsy and macular cherry-red spot--a new variant of GM1-gangliosidosis? (4278184)
1974

Genetic Variations for Cerebellar Ataxia

Expression for genes affiliated with Cerebellar Ataxia

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Compounds for genes affiliated with Cerebellar Ataxia

Sources:
45Novoseek, 24HMDB, 60Tocris Bioscience, 11DrugBank
See all sources

Compounds related to Cerebellar Ataxia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1glutamine4510.8CP, ALAS2, ATXN1, ATN1, ATXN7, ATXN2
2vitamin-e4510.7APTX, ABCB7, SETX, CP
3zinc45 2411.7CA8, APTX, DNMT1, ABCB7, ALAS2, CP
4testosterone45 60 11 2413.5SACS, ATN1, ATXN1, ABCB7, CP
5protoporphyrin ix45 11 2412.5ALAS2, ABCB7
6alpha tocopherol4510.3CP, SETX, APTX

GO Terms for genes affiliated with Cerebellar Ataxia

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Cerebellar 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