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 testes, brain 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
Testes, Brain, Eye, Cerebellum, Skin, Bone

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:00053767.0APTX, ATXN2, ATXN1, PRL, TRH, GLUD1
2MP:00053866.4TDP1, CACNA1A, TTPA, ABCD1, CD36, CBLN3
3MP:00036316.0ANP32A, TDP1, ABCD1, CD36, CBLN3, TRH

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
Hashimoto's encephalopathy as a treatable adult-onset cerebellar ataxia mimicking spinocerebellar degeneration. (23128836)
2013
3
Pathoanatomy of cerebellar degeneration in spinocerebellar ataxia type 2 (SCA2) and type 3 (SCA3). (22198871)
2012
4
Secondary amenorrhea in a woman with spinocerebellar degeneration treated with thyrotropin-releasing hormone: a case report and in vitro analysis. (22152284)
2011
5
Cognitive impairment in spinocerebellar degeneration. (19295212)
2009
6
Effect of coaching on psychological adjustment in patients with spinocerebellar degeneration: a pilot study. (17984151)
2007
7
Adrenoleukodystrophy manifesting as spinocerebellar degeneration. (16804268)
2006
8
Longitudinal study of bone and calcium metabolism and fracture incidence in spinocerebellar degeneration. (17035703)
2006
9
Thalamic stimulation for disabling tremor in a patient with spinocerebellar degeneration. (16155369)
2005
10
Pontine atrophy precedes cerebellar degeneration in spinocerebellar ataxia 7: MRI-based volumetric analysis. (15377695)
2004
11
Degeneration of the central vestibular system in spinocerebellar ataxia type 3 (SCA3) patients and its possible clinical significance. (15305986)
2004
12
Nystagmus-sensation dissociation in spinocerebellar degeneration. (14606594)
2003
13
Double-blind crossover study of branched-chain amino acid therapy in patients with spinocerebellar degeneration. (11897246)
2002
14
Transcranial magnetic stimulation alleviates truncal ataxia in spinocerebellar degeneration. (11784843)
2002
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
Autosomal dominant spinocerebellar degenerations. Clinical, pathological, and genetic correlations. (10367323)
1999
18
Genomic organisation of the spinocerebellar ataxia type 7 (SCA7) gene responsible for autosomal dominant cerebellar ataxia with retinal degeneration. (10598805)
1999
19
Histopathological and ultrastructural features of feline hereditary cerebellar cortical atrophy: a novel animal model of human spinocerebellar degeneration. (9797002)
1998
20
The laryngeal lesion in young dogs with neuronal vacuolation and spinocerebellar degeneration. (9684979)
1998
21
Stress induced urinary incontinence in patients with spinocerebellar degeneration. (9527157)
1998
22
Multiple-system atrophy is genetically distinct from identified inherited causes of spinocerebellar degeneration. (9409353)
1997
23
Clinicopathology of spinocerebellar degeneration: its correlation to the unstable CAG repeat of the affected gene. (9051687)
1997
24
Spinocerebellar ataxia type 1 with multiple system degeneration and glial cytoplasmic inclusions. (8967756)
1996
25
Association of the mitochondrial 8344 MERRF mutation with maternally inherited spinocerebellar degeneration and Leigh disease. (8559379)
1996
26
Single photon emission computed tomography using N-isopropyl-p-[123I]iodoamphetamine in spinocerebellar degeneration. (7628495)
1995
27
Reduced cerebellar blood flow and oxygen metabolism in spinocerebellar degeneration: a combined PET and MRI study. (8006682)
1994
28
Contribution of vision to the stabilization of body sway in patients with spinocerebellar degeneration. (8470515)
1993
29
Partially deficient glutamate dehydrogenase activity and attenuated oscillatory potentials in patients with spinocerebellar degeneration. (1740378)
1992
30
Spinocerebellar degeneration (SCD): cognitive disturbances. (1950465)
1991
31
The long loop reflex in spinocerebellar degeneration and motor neuron disease--its changes with TRH therapy. (2112456)
1990
32
Electron spin resonance studies of erythrocyte membrane in spinocerebellar degeneration. (2544683)
1989
33
Mitochondrial hydroxyapatite deposits in spinocerebellar degeneration. (2821875)
1987
34
Immunocytochemical binding to neurons of serum from spinocerebellar degeneration patients. (3474274)
1986
35
Macrosaccadic oscillation, saccadic dysmetria and motor error in spinocerebellar degeneration. (3831488)
1985
36
Large-fiber sensory neuronopathy in autosomal dominant spinocerebellar degeneration. (6318705)
1984
37
Spinocerebellar degeneration and slow saccades in three generations of a kinship: clinical and electrophysiologic findings. (6497715)
1984
38
Characteristics of gait ataxia in spinocerebellar degeneration assessed by means of simple quantitative method. (7169199)
1982
39
Spinocerebellar degeneration secondary to chronic intestinal malabsorption: a vitamin E deficiency syndrome. (7181449)
1982
40
TRH and spinocerebellar degeneration. (6127475)
1982
41
Adrenoleukomyeloneuropathy presenting as spinocerebellar degeneration. (7202153)
1982
42
Brainstem auditory evoked responses in spinocerebellar degeneration and Wilson disease. (7212664)
1981
43
An investigation of pyruvate metabolism in patients with cerebellar and spinocerebellar degeneration. (6893466)
1980
44
Effect of thyrotropin-releasing hormone on ataxia of spinocerebellar degeneration. (6101863)
1980
45
Spinocerebellar degeneration: hexosaminidase A and B deficiency in two adult sisters. (571983)
1979
46
A case of familial spinocerebellar degeneration with hypobetalipoproteinemia. (179026)
1976
47
An autosomal dominant form of necrotizing encephalomyelopathy resembling a spinocerebellar degeneration. (1226640)
1975
48
Slow eye movements in spinocerebellar degeneration. (4725008)
1973
49
A new form of heredo-familial spinocerebellar degeneration with slow eye movements (nine families). (5571047)
1971
50
Quantitation of Meissner's corpuscles in hereditary neurologic disorders. Charcot-Marie-Tooth disease, Roussy-Levy syndrome, Dejerine-Sottas disease, hereditary sensory neuropathy, spinocerebellar degenerations, and hereditary spastic paraplegia. (5948001)
1966

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:0484717.8ATXN2, CHERP, ANP32A, ABCD1, S100A6
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