MCID: SPN050
MIFTS: 43

Spinocerebellar Degeneration malady

Summaries for Spinocerebellar Degeneration

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43NINDS, 63Wikipedia, 32MalaCards
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NINDS:43 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: Spinocerebellar Degeneration, also known as spinocerebellar degenerations, is related to spinocerebellar ataxia and parkinson's disease. An important gene associated with Spinocerebellar Degeneration is GLUD1 (glutamate dehydrogenase 1). The compounds carbamazepine and ghrp have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and eye, and related mouse phenotypes are homeostasis/metabolism and behavior/neurological.

Wikipedia:63 There have been up to 60 different types of SCA identified (most are found on autopsy) as there is no... more...

Aliases & Classifications for Spinocerebellar Degeneration

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8Disease Ontology, 43NINDS, 44Novoseek, 60UMLS, 27ICD9CM
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Aliases & Descriptions:

spinocerebellar degeneration 8 43
spinocerebellar degenerations 44


External Ids:

Disease Ontology8 DOID:2478
ICD9CM27 334.3

Related Diseases for Spinocerebellar Degeneration

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

(show top 50)    (show all 88)
idRelated DiseaseScoreTop Affiliating Genes
1spinocerebellar ataxia30.8TDP1, ANP32A, ATXN1, ATXN3, ATXN2, CACNA1A
2parkinson's disease30.4CHERP, ATXN2, RPS27A, GLUD1
3neuropathy30.4CACNA1A
4dentatorubral-pallidoluysian atrophy30.2ATXN1, ATXN3, ATXN2
5cerebellar ataxia30.2ATXN3, ATXN2, APTX, CACNA1A, TTPA
6peripheral neuropathy30.0APTX
7multiple system atrophy30.0RPS27A, ATXN3, ATXN1, GLUD1
8hereditary ataxia30.0ATXN2, ATXN1, ATXN3, CACNA1A
9hypoglycemia30.0TRH, GLUD1, PRL
10friedreich ataxia30.0ATXN1, ATXN3, ATXN2, APTX, CACNA1A, TTPA
11neuronitis10.5
12adrenoleukodystrophy10.4
13spinocerebellar degeneration and corneal dystrophy10.3
14cerebritis10.3
15cerebral degeneration10.3
16motor neuron disease10.3
17histiocytosis10.2
18langerhans-cell histiocytosis10.2
19ataxias and cerebellar or spinocerebellar degeneration10.2
20deficiency anemia10.0
21bone fracture10.0
22dissociated nystagmus10.0
23chediak-higashi syndrome10.0
24hypobetalipoproteinemia10.0
25facial hemiatrophy10.0
26amenorrhea10.0
27leigh disease10.0
28hereditary spastic paraplegia10.0
29blind loop syndrome10.0
30celiac disease10.0
31peroneal neuropathy10.0
32wilson disease10.0
33asthma10.0
34cerebrovascular disease10.0
35charcot-marie-tooth disease10.0
36corneal degeneration10.0
37corneal dystrophy10.0
38diabetes mellitus10.0
39gangliosidosis10.0
40gangliosidosis gm210.0
41hemolytic anemia10.0
42hepatitis10.0
43hereditary sensory neuropathy10.0
44laryngitis10.0
45nervous system disease10.0
46paraplegia10.0
47tooth disease10.0
48neurologic diseases10.0
49charcot-marie-tooth hereditary neuropathy10.0
50mousa al din al nassar syndrome10.0

Graphical network of the top 20 diseases related to Spinocerebellar Degeneration:



Diseases related to spinocerebellar degeneration

Clinical Features for Spinocerebellar Degeneration

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Drugs & Therapeutics for Spinocerebellar Degeneration

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Spinocerebellar Degeneration

Drug clinical trials:

Search ClinicalTrials for Spinocerebellar Degeneration

Search NIH Clinical Center for Spinocerebellar Degeneration

Search CenterWatch for Spinocerebellar Degeneration

Genetic Tests for Spinocerebellar Degeneration

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Anatomical Context for Spinocerebellar Degeneration

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32MalaCards
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MalaCards organs/tissues related to Spinocerebellar Degeneration:

32
Brain, Testes, Eye, Cerebellum, Bone, Skin

Animal Models for Spinocerebellar Degeneration or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Spinocerebellar Degeneration:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053767.0PRL, ATXN1, ATXN2, APTX, TRH, GLUD1
2MP:00053866.4ATXN1, ATXN3, ATXN2, CACNA1A, PRL, ANP32A
3MP:00036316.0TDP1, CACNA1A, ATXN2, ATXN3, ATXN1, PRL

Publications for Spinocerebellar Degeneration

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50PubMed
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Articles related to Spinocerebellar Degeneration:

(show top 50)    (show all 154)
idTitleAuthorsYear
1
Distinctive features of degenerating Purkinje cells in spinocerebellar ataxia type 31. (24344778)
2013
2
Overexpression of HGF attenuates the degeneration of Purkinje cells and Bergmann glia in a knockin mouse model of spinocerebellar ataxia type 7. (22426494)
2012
3
Haploinsufficiency of AFG3L2, the gene responsible for spinocerebellar ataxia type 28, causes mitochondria-mediated Purkinje cell dark degeneration. (19625515)
2009
4
Effect of coaching on psychological adjustment in patients with spinocerebellar degeneration: a pilot study. (17984151)
2007
5
Catatonic stupor superimposed on hereditary spinocerebellar degeneration resolved with electroconvulsive therapy. (16764981)
2006
6
Longitudinal study of bone and calcium metabolism and fracture incidence in spinocerebellar degeneration. (17035703)
2006
7
Degeneration of the inferior olive in spinocerebellar ataxia 6 may depend on disease duration: report of two autopsy cases and statistical analysis of autopsy cases reported to date. (15875905)
2005
8
Thalamic stimulation for disabling tremor in a patient with spinocerebellar degeneration. (16155369)
2005
9
Spinocerebellar degeneration with negative electroretinogram: dysfunction of the bipolar cells. (15573948)
2004
10
Degeneration of the central vestibular system in spinocerebellar ataxia type 3 (SCA3) patients and its possible clinical significance. (15305986)
2004
11
Nystagmus-sensation dissociation in spinocerebellar degeneration. (14606594)
2003
12
Mice lacking phosphatidylinositol transfer protein-alpha exhibit spinocerebellar degeneration, intestinal and hepatic steatosis, and hypoglycemia. (12788952)
2003
13
Degeneration of the external cuneate nucleus in spinocerebellar ataxia type 3 (Machado-Joseph disease). (12384246)
2002
14
Reduced pre-movement facilitation of motor evoked potentials in spinocerebellar degeneration. (11440743)
2001
15
Therapeutic efficacy of transcranial magnetic stimulation for hereditary spinocerebellar degeneration. (10674722)
1999
16
Branched-chain amino acid therapy for spinocerebellar degeneration: a pilot clinical crossover trial. (10397076)
1999
17
Chronic vitamin E deficiency causing spinocerebellar degeneration, peripheral neuropathy, and centro-cecal scotomata. (10198917)
1999
18
The laryngeal lesion in young dogs with neuronal vacuolation and spinocerebellar degeneration. (9684979)
1998
19
Multiple-system atrophy is genetically distinct from identified inherited causes of spinocerebellar degeneration. (9409353)
1997
20
Clinicopathology of spinocerebellar degeneration: its correlation to the unstable CAG repeat of the affected gene. (9051687)
1997
21
Ocular changes in patients with spinocerebellar degeneration and repeated trinucleotide expansion of spinocerebellar ataxia type 1 gene. (9046258)
1997
22
Spinocerebellar ataxia type 1 with multiple system degeneration and glial cytoplasmic inclusions. (8967756)
1996
23
Spinocerebellar degeneration and cerebral hypomyelination in a family. (7573169)
1995
24
Cerebellin in the cerebellum in spinocerebellar degeneration]. (7495612)
1995
25
Calbindin-D 28k immunoreactivity in the cerebellum of spinocerebellar degeneration. (7608734)
1995
26
Autosomal dominant spinocerebellar atrophy with retinal degeneration. (7614091)
1995
27
Contribution of vision to the stabilization of body sway in patients with spinocerebellar degeneration. (8470515)
1993
28
Partially deficient glutamate dehydrogenase activity and attenuated oscillatory potentials in patients with spinocerebellar degeneration. (1740378)
1992
29
Spinocerebellar degeneration. (2056261)
1991
30
Cross-correlation function in the analysis of auditory brainstem response in spinocerebellar degeneration. (1793387)
1991
31
Adrenoleukodystrophy presenting as spinocerebellar degeneration. (2547619)
1989
32
Severe diaphragm weakness in spinocerebellar degeneration. (3162620)
1988
33
Immunocytochemical binding to neurons of serum from spinocerebellar degeneration patients. (3474274)
1986
34
Spinocerebellar degeneration with prominent involvement of the motor neuron system: autopsy report of a sporadic case. (3727937)
1986
35
Familial spinocerebellar degeneration with corneal dystrophy. (3872072)
1985
36
Celiac disease and spinocerebellar degeneration with normal vitamin E status. (4022355)
1985
37
Macrosaccadic oscillation, saccadic dysmetria and motor error in spinocerebellar degeneration. (3831488)
1985
38
Glutamate and pyruvate dehydrogenase deficiency in spinocerebellar degeneration. (6437168)
1984
39
Spinocerebellar degeneration and slow saccades in three generations of a kinship: clinical and electrophysiologic findings. (6497715)
1984
40
Abnormalities of lipoprotein and carbohydrate metabolism in degenerative diseases of the nervous system--motor neuron disease and spinocerebellar degeneration. (6346585)
1983
41
Motor disabilities and effects of thyrotropin-releasing hormone on ataxia of spinocerebellar degeneration. (6408760)
1983
42
TRH and spinocerebellar degeneration. (6127475)
1982
43
Adrenoleukomyeloneuropathy presenting as spinocerebellar degeneration. (7202153)
1982
44
Spinocerebellar degeneration with divergence paralysis as the earliest sign. (7204104)
1980
45
Heredoataxia (spinocerebellar degeneration), ERG alterations, temporal aspects. (492674)
1979
46
Late-onset nonketotic hyperglycinemia and spinocerebellar degeneration. (448532)
1979
47
Heredo - familial spinocerebellar degeneration with slow eye movements--another variety of olivopontocerebellar degeneration. (613260)
1977
48
Slow saccades in spinocerebellar degeneration. (1083233)
1976
49
Slow eye movements in spinocerebellar degeneration. (4725008)
1973
50
NERVE CONDUCTION TIMES IN NEUROLOGICAL DIAGNOSIS. EVIDENCE OF NEUROPATHIC COMPONENT IN SOME CASES OF SPINOCEREBELLAR DEGENERATION. (14048114)
1963

Genetic Variations for Spinocerebellar Degeneration

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Expression for genes affiliated with Spinocerebellar Degeneration

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Spinocerebellar Degeneration

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Pathways for genes affiliated with Spinocerebellar Degeneration

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Compounds for genes affiliated with Spinocerebellar Degeneration

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44Novoseek, 49PharmGKB, 11DrugBank, 28IUPHAR, 2BitterDB, 24HMDB, 59Tocris Bioscience
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Compounds related to Spinocerebellar Degeneration according to GeneCards/GeneDecks:

(show all 23)
idCompoundScoreTop Affiliating Genes
1carbamazepine44 49 1111.8PRL, GLUD1, CD36
2ghrp449.8PRL, TRH
3perphenazine49 28 44 1112.8GLUD1, PRL
4pyridostigmine44 1110.7TRH, PRL
5glutaraldehyde449.7TRH, GLUD1, CD36
6sulpiride44 28 1111.7PRL, TRH
7alpha tocopherol449.7TTPA, CD36, APTX
8domperidone44 28 1111.6PRL, TRH
9haloperidol44 28 2 49 1113.6GLUD1, TRH, PRL
10levodopa44 1110.6TRH, PRL, RPS27A
11fenfluramine28 44 1111.5TRH, PRL
12acetylcholine44 49 28 11 2413.5RPS27A, CACNA1A, TRH, GLUD1
13palmitate449.4ABCD1, S100A6, RPS27A
14hydrocortisone44 2 59 1112.3CD36, TRH, PRL
15metoclopramide44 1110.2PRL, TRH
16dexamethasone44 49 28 1111.9RPS27A, PRL, TRH, GLUD1, CD36
17lysine448.9GLUD1, S100A6, CACNA1A, RPS27A
18arginine448.8TTPA, ABCD1, GLUD1, TRH, PRL, RPS27A
19norepinephrine44 11 2410.4S100A6, PRL, TRH, CBLN3
20atp44 289.3RPS27A, S100A6, TRH, GLUD1, ABCD1, TTPA
21estrogen447.9RPS27A, S100A6, PRL, ANP32A, TRH, CD36
22glutamine447.6TTPA, RPS27A, CACNA1A, ATXN2, ATXN3, ATXN1
23testosterone44 59 11 2410.3RPS27A, S100A6, ATXN3, ATXN1, PRL, CHERP

GO Terms for genes affiliated with Spinocerebellar Degeneration

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16Gene Ontology
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Cellular components related to Spinocerebellar Degeneration according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nuclear inclusion bodyGO:04240510.0ATXN1, ATXN3
2perinuclear region of cytoplasmGO:0484717.8S100A6, ATXN2, CHERP, ANP32A, ABCD1
3cytoplasmGO:0057376.5TDP1, CACNA1A, S100A6, APTX, ATXN2, ATXN3

Biological processes related to Spinocerebellar Degeneration according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cerebellar Purkinje cell differentiationGO:02170210.0ATXN2, CACNA1A
2single strand break repairGO:0000129.6TDP1, APTX
3cell deathGO:0082198.8TDP1, CACNA1A, APTX, ATXN2, ATXN3, ATXN1

Molecular functions related to Spinocerebellar Degeneration according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:0055156.2TDP1, S100A6, APTX, ATXN2, ATXN3, ATXN1

Products for genes affiliated with Spinocerebellar Degeneration

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Sources for Spinocerebellar Degeneration

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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