MCID: CRB059

Cerebellar Degeneration malady

Summaries for Cerebellar Degeneration

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30NIH Rare Diseases, 31NINDS, 22MalaCards
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NINDS: Cerebellar degeneration is a process in which neurons in the cerebellum - the area of the brain that controls coordination and balance - deteriorate and die. Diseases that cause cerebellar degeneration can also involve other areas of the central nervous system,including the spinal cord, medulla oblongata, cerebral cortex, and brain stem. Cerebellar degeneration may be the result of inherited genetic mutations that alter the normal production of specific proteins that are necessary for the survival of neurons.31

MalaCards: Cerebellar Degeneration is related to paraneoplastic cerebellar degeneration and lambert-eaton myasthenic syndrome. An important gene associated with Cerebellar Degeneration is CDR1 (cerebellar degeneration-related protein 1, 34kDa), and among its related pathways is ATM Pathway. The compounds 2-deoxyglucose and polyacrylamide have been mentioned in the context of this disorder. Affiliated tissues include brain, lung and spinal cord, and related mouse phenotypes are nervous system and mortality/aging.

NIH Rare Diseases: Cerebellar degeneration is a disease process in which neurons in the cerebellum (the area of the brain that controls muscle coordination and balance) deteriorate and die. Cerebellar degeneration does not constitute a specific diagnosis, but rather is used to describe the changes that occur in a person's nervous system. Diseases that cause cerebellar degeneration can also involve areas of the brain that connect the cerebellum to the spinal cord, such as the medulla oblongata, the cerebral cortex, and the brain stem. Cerebellar degeneration has many different causes, but is most often the result of inherited genetic mutations.30

Aliases & Descriptions for Cerebellar Degeneration

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30NIH Rare Diseases, 31NINDS, 32Novoseek , 43UMLS
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cerebellar degeneration 30 31 32 43

Related Diseases for Cerebellar Degeneration

Sources:
13GeneCards, 14GeneDecks
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Diseases related to cerebellar degeneration by text searches and GeneDecks gene sharing:

(show top 50)    (show all 100)
idRelated DiseaseScoreTop Affiliating Genes
1paraneoplastic cerebellar degeneration32.9GRP, ZIC1, ELAVL3, NRGN, AMPH, HRH4
2lambert-eaton myasthenic syndrome28.8AMPH, CACNA1A, ELAVL3, GRP
3dentatorubral-pallidoluysian atrophy28.8ATXN2, PRNP, CACNA1A
4paraneoplastic neurologic disorders28.7ELAVL3, CDR3, ZIC1, CDR1, ZIC4, CDR2
5myasthenic syndrome28.7ELAVL3, CACNA1A, GRP, AMPH, BLZF1
6stiff-person syndrome28.6AMPH, GAD1
7type 2 diabetes mellitus25.5RETN, GAD1, IGF1, ADIPOQ, GSR
8renal cell carcinoma25.3GRP, GSR, AMPH, IGF1, GAD1, CDR2
9immunodeficiency25.1PRNP, MUC16, PKN1, ATM, IGF1, AP2B1
10diabetes mellitus24.3AMPH, CACNA1A, TPT1, ADIPOQ, GSR, IGF1
11ataxia24.3SLC1A3, AFG3L2, CACNA1A, ACO2, PRND, ATM
12neuronitis22.4CDR2, PRND, HRH4, RETN, AP2B1, GSR
13carcinoma20.4BLZF1, PKN1, ELAVL3, NRGN, GRP, GLUD1
14spinocerebellar ataxia type 613.4CACNA1A, BLZF1
15bovine spongiform encephalopathy13.4PRNP, PRND
16familial creutzfeldt-jakob disease13.3PRNP, PRND
17spinocerebellar ataxia type 1213.3CACNA1A, ATXN2, PRNP
18spinocerebellar ataxia type 2813.2AFG3L2, SPG7
19alternating hemiplegia of childhood13.1SLC1A3, CACNA1A
20limbic encephalitis13.1GSR, ELAVL3, AMPH, GAD1
21spinocerebellar ataxia type 313.0BLZF1, CACNA1A, ATXN2, SLC1A3
22spinocerebellar degeneration13.0ATXN2, GLUD1, CACNA1A
23cerebellar disease13.0GAD1, ATM, CACNA1A, ZIC1
24wernicke encephalopathy12.9GAD1, SLC1A3, PRNP
25hereditary ataxia12.9SPG7, AFG3L2, CACNA1A, ATXN2
26friedreich ataxia12.8ACO2, GSR, CACNA1A, ATXN2
27multiple system atrophy12.7ATXN2, GLUD1, CACNA1A, PRNP
28prediabetes syndrome12.7GAD1, ADIPOQ
29olivopontocerebellar atrophy12.5ATXN2, GLUD1
30temporal lobe epilepsy12.5GLUD1, SLC1A3, PRNP, GAD1
31lipoatrophic diabetes12.3RETN, ADIPOQ
32parkinson's disease12.3GSR, GLUD1, PRNP, GAD1, ATXN2, BLZF1
33wilson disease12.3ATP7A, PRNP, GSR, IGF1
34epilepsy syndrome12.2GAD1, PRNP, ATXN2, CACNA1A, GSR, GLUD1
35gestational diabetes12.1RETN, GAD1, ADIPOQ
36motor neuron disease12.1AMPH, IGF1, SPG7, SLC1A3
37fanconi's anemia12.1TPT1, ATM, IGF1, BLZF1, MRE11A, GSR
38gastrointestinal stromal tumor12.1CA8, MUC16, GLUD1, IGF1, AMPH
39cerebellar ataxia12.0ATM, AP3B2, GAD1, PRNP, CACNA1A, AFG3L2
40werner syndrome11.9ADIPOQ, IGF1, ATM, MRE11A
41insulinoma11.8GLUD1, GSR, IGF1, GRP, GAD1
42jaundice11.7IGF1, GSR, MUC16, GLUD1
43dementia11.6CACNA1A, PRNP, GRP, GSR, NRGN, IGF1
44glucose intolerance11.5ADIPOQ, RETN, GAD1, IGF1
45amyotrophic lateral sclerosis11.5GSR, NRGN, GLUD1, ATXN2, SLC1A3, ELAVL3
46type 1 diabetes mellitus11.4ADIPOQ, IGF1, TPT1, GSR, GAD1
47seizures11.4SLC1A3, PRNP, AMPH, GLUD1, ADIPOQ, GAD1
48neurodegenerative disease11.4ATXN2, BLZF1, GLUD1, ATP7A, SPG7, PRND
49hypothyroidism11.3SLC1A3, NRGN, RETN, IGF1, ADIPOQ, GSR
50hypercholesterolemia11.3ATM, IGF1, ADIPOQ, RETN, AP2B1

Graphical network of the top 20 diseases related to cerebellar degeneration:



Graphical network of diseases related to cerebellar degeneration

Clinical Features for Cerebellar Degeneration

Drugs & Therapeutics for Cerebellar Degeneration

Sources:
4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials, 43UMLS, 28NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Cerebellar Degeneration

Anatomical Context for Cerebellar Degeneration

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22MalaCards
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MalaCards organs/tissues related to cerebellar degeneration:

22
Brain, Lung, Spinal cord, Cortex, Cerebellum, T cells, B cells, Medulla oblongata

Phenotypes for genes affiliated with Cerebellar Degeneration

Sources:
25MGI
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MGI Mouse Phenotypes related to cerebellar degeneration:

25
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1nervous system phenotypeMP:00036316.6GAD1, AFG3L2, SLC1A3, PRND, NRGN, SPG7
2mortality/agingMP:00107685.4MYBL2, ATXN2, ATM, MRE11A, MORF4L1, MORF4L2
3behavior/neurological phenotypeMP:00053865.0ATP7A, ZIC4, ZIC1, ATXN2, ATM, MRE11A
4growth/size phenotypeMP:00053784.8CACNA1A, ZIC4, GAD1, AFG3L2, ADIPOQ, PRNP

Publications for genes affiliated with Cerebellar Degeneration

Sources:
35PubMed
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Articles related to cerebellar degeneration:

(show all 42)
idTitleAuthorsYearAffiliating Genes
1Paraneoplastic cerebellar degeneration (20420175)Sakai K.2010ZIC1, CDR2
2Autopsy study of cerebellar degeneration in siblings with ataxia-telangiectasia-like disorder. (20087742)Oba D.... Mizutani S.2010MRE11A
3Onconeuronal cerebellar degeneration-related antigen, Cdr2, is strongly expressed in papillary renal cell carcinoma and leads to att enuated hypoxic response. (19581925)Balamurugan K.... Camenisch G.2009CDR2
4Genetic interaction between the m-AAA protease isoenzymes reveals novel roles in cerebellar degeneration. (19289403)Martinelli P.... Rugarli E.I.2009SPG7, AFG3L2
5Increased chromosome instability dramatically disrupt s neural genome integrity and mediates cerebellar degeneration in the ataxia-te langiectasia brain. (19414482)Iourov I.Y.... Yurov Y.B.2009ATM
6Morphology and immuno-distribution of the histamine H4 receptor and histamine--releasing factor in choroid plexus of patients with paraneoplastic cerebellar degeneration. (19271148)MaA9liA8ska D.... MaA9liA8ski S.2009TPT1, HRH4
7Functional analysis of CD8+ T cell responses to the onconeural self protein cdr2 in patients with paraneoplastic cerebellar degeneration. (18053582)Carpenter E.L.... Vonderheide R.H.2008CDR2
8A rare saccade velocity profile in Stiff-Person Syndrome with cerebellar degeneration. (16725126)Zivotofsky A.Z.... Gordon C.R.2006GAD1
9A case of small cell carcinoma of the lung associated with paraneoplastic cerebellar degeneration and Lambert-Eaton myasthenic syndrome (16482925)Seki N.... Tsuji S.2006AMPH, GRP
10Carbonic anhydrase-related protein VIII: autoantigen in paraneoplastic cerebellar degeneration. (15389893)Bataller L.... Graus F.2004CA8
11An interferon-gamma ELISPOT and immunohistochemical investigation of cytotoxic T lymphocyte-mediated tumour immunity in patients with paraneoplastic cerebellar degeneration and anti-Yo antibodies. (15081253)Sutton I.J.... Young L.S.2004CDR2
12Effect of a paraneoplastic cerebellar degeneration-associated neural protein on B-myb promoter activity. (15056460)Sakai K.... Hirose G.2004MYBL2, MORF4L1
13A case of acquired generalized lipodystrophy with cerebellar degeneration and type 2 diabetes mellitus. (17491704)Chao P.J.... Lee Y.J.2004ADIPOQ, RETN
14Importance of plasmapheresis in the treatment of paraneoplastic cerebellar degeneration (15125396)Basic-Jukic N.... Brunetta B.2004CDR2
15Cerebellar degeneration and autoimmunity to zinc-finger proteins of the cerebellum. (12499499)Bataller L.... Dalmau J.2002ZIC1, ZIC4
16Interaction of a paraneoplastic cerebellar degeneration-associated neuronal protein with the nuclear helix-loop-helix leucine zipper protein MRG X. (11988016)Sakai K.... Hirose G.2002MORF4L2, CDR2
17A case of paraneoplastic cerebellar degeneration with resting tremor (11433763)Kurokawa T.... Kira J.2001MUC16
18Doppel-induced cerebellar degeneration in transgenic mice. (11734625)Moore R.C.... Tremblay P.2001PRND
19Induction of cytotoxic T lymphocytes specific for paraneoplastic cerebellar degeneration-associated antigen in vivo by DNA immunization. (11771954)Sakai K.... Hirose G.2001BLZF1, CDR2
20Cytotoxic T cell activity against the peptide, AYRARALEL, from Yo protein of patients with the HLA A24 or B27 supertype and paraneoplastic cerebellar degeneration. (11489286)Tanaka M.... Takiguchi M.2001CDR2
21Cerebellar degeneration in hereditary dentatorubral-pallidoluysian atrophy and Machado-Joseph disease. (10651027)Kumada S.... Oda M.2000SLC1A3
22A candidate peptide reacting with cytotoxic T cells in paraneoplastic cerebellar degeneration with anti-Yo antibody (10502981)Tanaka M.... Tanaka K.1999CDR2
23Neuropathological study of cerebellar degeneration in prion disease. (19519645)Yang Q.... Wang Y.1999PRNP
24Low insulin-like growth factor (IGF-1) in the cerebrospinal fluid of children with progressive encephalopathy, hypsarrhythmia, and optic atrophy (PEHO) syndrome and cerebellar degeneration. (10565594)Riikonen R.... Turpeinen U.1999IGF1
25Cytotoxic T cells against a peptide of Yo protein in patients with paraneoplastic cerebellar degeneration and anti-Yo antibody. (10500270)Tanaka M.... Tsuji S.1999CDR2
26Failure to detect cytotoxic T cell activity against recombinant Yo protein using autologous dendritic cells as the target in a patient with paraneoplastic cerebellar degeneration and anti-Yo antibody. (9527904)Tanaka M.... Tsuji S.1998CDR2
27Cytotoxic T cells react with recombinant Yo protein from a patient with paraneoplastic cerebellar degeneration and anti-Yo antibody. (9879687)Tanaka M.... Tsuji S.1998CDR2
28PKN interacts with a paraneoplastic cerebellar degeneration-associated antigen, which is a potential transcription factor. (9637778)Takanaga H.... Ono Y.1998PKN1, LGALS4, CDR2
29Absence of antibodies to non-NMDA glutamate-receptor subunits in paraneoplastic cerebellar degeneration. (9595993)Degenhardt A.... Dalmau J.1998GSR
30Tumor-specific killer cells in paraneoplastic cerebellar degeneration. (9809559)Albert M.L.... Darnell R.B.1998CDR2
31Expression of messenger RNA encoding a paraneoplastic cerebellar degeneration-associated antigen in the rat hippocampus. (8545049)Sakai K.... Hirose G.1995CDR2
32Beta-NAP, a cerebellar degeneration antigen, is a neuron-specific vesicle coat protein. (7671305)Newman L.S.... Darnell R.B.1995AP2B1, AP3B2
33Trial to establish an animal model of paraneoplastic cerebellar degeneration with anti-Yo antibody. 1. Mouse strains bearing different MHC molecules produce antibodies on immunization with recombinant Yo protein, but do not cause Purkinje cell loss. (7788981)Tanaka M.... Tsuji S.1995CDR2
34Trial to establish an animal model of paraneoplastic cerebellar degeneration with anti-Yo antibody. 2. Passive transfer of murine mononuclear cells activated with recombinant Yo protein to paraneoplastic cerebellar degeneration lymphocytes in severe combined immunodeficiency mice. (7788964)Tanaka K.... Tsuji S.1995CDR2
35Glutamate dehydrogenase deficiency in cerebellar degenerations: clinical, biochemical and molecular genetic aspects. (8334586)Plaitakis A.... Shashidharan P.1993GLUD1
36Isolation of a complementary DNA clone encoding an autoantigen recognized by an anti-neuronal cell antibody from a patient with paraneoplastic cerebellar degeneration. (1763903)Sakai K.... Steinman L.1991CDR2
37Antiserum from a patient with cerebellar degeneration identifies a novel protein in Purkinje cells, cortical neurons, and neuroectodermal tumors. (1851215)Darnell R.B.... Posner J.B.1991AP3B2
38Cloning of a leucine-zipper protein recognized by the sera of patients with antibody-associated paraneoplastic cerebellar degeneration. (2014264)Fathallah-Shaykh H.... Furneaux H.M.1991CDR2
39General assay for phosphoproteins in cerebrospinal fl uid: a candidate marker for paraneoplastic cerebellar degeneration. (2285268)Gandy S.E.... Sedvall G.1990NRGN
40Isolation of a complementary DNA clone encoding an autoantigen recognized by an anti-neuronal cell antibody from a patient with paraneoplastic cerebellar degeneration. (2260856)Sakai K.... Steinman L.1990CDR2
41Cerebellar degeneration-related antigen: a highly conserved neuroectodermal marker mapped to chromosomes X in human and mouse. (2326268)Chen Y.-T.... Old L.J.1990CDR1
42Cloning of a brain protein identified by autoantibodies from a patient with paraneoplastic cerebellar degeneration. (3474619)Dropcho E.J.... Old L.J.1987CDR1

Expression for genes affiliated with Cerebellar Degeneration

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1BioGPS
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Expression patterns in normal tissues for genes affiliated with Cerebellar Degeneration

Pathways for genes affiliated with Cerebellar Degeneration

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36QIAGEN
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Pathways related to cerebellar degeneration according to GeneDecks:

idPathwayScoreTop Affiliating Genes
1ATM Pathway369.7ATM, MRE11A, AP3B2

Compounds for genes affiliated with Cerebellar Degeneration

Sources:
32Novoseek , 18HMDB, 9DrugBank, 42Tocris Bioscience
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Compounds related to cerebellar degeneration according to GeneDecks:

(show all 32)
idCompoundScoreTop Affiliating Genes
12-deoxyglucose32 9.3GRP, IGF1, ADIPOQ
2polyacrylamide32 9.3BLZF1, PRNP, ATXN2, ATM, GLUD1
317-hydroxyprogesterone32 18 10.2RETN, MUC16, ADIPOQ
4leucine32 9.2ATM, BLZF1, LGALS4, MORF4L1, GLUD1, PKN1
5genistein32 9 18 9 12.1ATM, LGALS4, BLZF1, IGF1, GSR, GRP
6L-Glutamic Acid9 18 9 11.1GLUD1, GSR, SLC1A3, GAD1
7valproate32 8.9GLUD1, GSR, GAD1, IGF1
8c-peptide32 8.9GAD1, ADIPOQ, RETN
9zinc32 18 9.9BLZF1, ZIC1, ATM, PRNP, SPG7, LGALS4
10prostaglandin f2alpha32 8.7ADIPOQ, GRP, IGF1, GLUD1
11nmda32 42 9.7BLZF1, GAD1, SLC1A3, NRGN, GLUD1, GRP
12uric acid32 18 9.7RETN, GSR, GLUD1, ADIPOQ
13thyroxine32 18 9.7ADIPOQ, NRGN, RETN, IGF1, GSR
14gaba32 42 9.6GSR, GLUD1, SLC1A3, GAD1, GRP
15lactate32 8.4GSR, GRP, GLUD1, ATM, BLZF1, TPT1
16acetylcholine32 9 18 9 11.2CACNA1A, AMPH, ADIPOQ, GAD1, GLUD1, BLZF1
17phosphatidylinositol32 8.0PKN1, GRP, IGF1, AMPH, ATM, BLZF1
18atp32 8.0GAD1, SLC1A3, PRNP, PKN1, GLUD1, CDR1
19estradiol32 9 18 9 10.9GAD1, ADIPOQ, IGF1, MUC16, RETN, LGALS4
20glutamine32 7.9BLZF1, ATXN2, IGF1, ATM, CACNA1A, GAD1
21estrogen32 7.8GRP, IGF1, ADIPOQ, MUC16, RETN, LGALS4
22testosterone32 9 18 9 10.8GRP, LGALS4, MUC16, BLZF1, RETN, IGF1
23h2o232 7.7BLZF1, MUC16, GAD1, ADIPOQ, GSR, GLUD1
24tyrosine32 7.5ATM, IGF1, GRP, NRGN, PKN1, PRNP
25arginine32 7.4ADIPOQ, IGF1, GLUD1, BLZF1, MRE11A, GRP
26aspartate32 7.2GAD1, RETN, GSR, GLUD1, PRNP, SLC1A3
27alanine32 7.2BLZF1, LGALS4, GSR, GRP, ADIPOQ, GLUD1
28creatinine32 7.0MUC16, GSR, GRP, IGF1, RETN, GLUD1
29glucose32 6.9SLC1A3, BLZF1, ADIPOQ, GLUD1, IGF1, MUC16
30serine32 6.6SLC1A3, PKN1, TPT1, GLUD1, IGF1, GRP
31glutamate32 INFAMPH, GRP, GSR, BLZF1, SLC1A3,
32iron32 18 INFGAD1, PRNP, MUC16, , BLZF1, ATM

GO Terms for genes affiliated with Cerebellar Degeneration

Sources:
12Gene Ontology
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Biological processes related to cerebellar degeneration according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cerebellar Purkinje cell differentiationGO:0217029.7CACNA1A, ATXN2, ATP7A
2glutamate biosynthetic processGO:0065379.6SLC1A3, GLUD1
3cellular copper ion homeostasisGO:0068789.6ATP7A, PRND, PRNP
4glutamate catabolic processGO:0065389.0GAD1, GLUD1
5cell deathGO:008219INFAFG3L2, , SPG7, CACNA1A, ATXN2

Molecular functions related to cerebellar degeneration according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:0055154.6MUC16, AFG3L2, ADIPOQ, PRNP, PKN1, SPG7

Sources for Cerebellar Degeneration

2CDC
11FMA
18HMDB
19ICD9CM
20KEGG
24MeSH
25MGI
27NCIt
28NDF-RT
31NINDS
32Novoseek
33OMIM
35PubMed
36QIAGEN
43UMLS