MCID: SPN050
MIFTS: 37

Spinocerebellar Degeneration malady

Summaries for Spinocerebellar Degeneration

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NINDS:42 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 based summary: Spinocerebellar Degeneration, also known as spinocerebellar degenerations, is related to spinocerebellar ataxia 2 and dentatorubro-pallidoluysian atrophy. An important gene associated with Spinocerebellar Degeneration is ABCD1 (ATP-binding cassette, sub-family D (ALD), member 1), and among its related pathways are Synaptic transmission ion currents and Prostaglandin Synthesis and Regulation. The compounds perphenazine and alpha tocopherol have been mentioned in the context of this disorder. Affiliated tissues include eye, cerebellum and testes, and related mouse phenotypes are reproductive system and homeostasis/metabolism.

Aliases & Classifications for Spinocerebellar Degeneration

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Sources:
9Disease Ontology, 42NINDS, 43Novoseek, 60UMLS, 27ICD9CM
See all sources

Spinocerebellar Degeneration, Aliases & Descriptions:

Name: Spinocerebellar Degeneration 9 42 60
Spinocerebellar Degenerations 43
 
Ataxia, Spinocerebellar 60


External Ids:

Disease Ontology9 DOID:2478
ICD9CM27 334.3

Related Diseases for Spinocerebellar Degeneration

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Diseases related to Spinocerebellar Degeneration via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 68)
idRelated DiseaseScoreTop Affiliating Genes
1spinocerebellar ataxia 230.5ATXN3, ATXN2
2dentatorubro-pallidoluysian atrophy30.2ATXN1, ATXN3, ATXN2
3multiple system atrophy30.0ATXN3, RPS27A, GLUD1, ATXN1
4hereditary ataxia29.9ATXN2, CACNA1A, ATXN3, ATXN1
5cerebellar ataxia29.8CACNA1A, ATXN3, TTPA, APTX, ATXN2
6spinocerebellar ataxia29.8CACNA1A, ATXN2, ATXN3, ANP32A, TDP1, ATXN1
7friedreich ataxia29.5ATXN3, CACNA1A, ATXN1, ATXN2, TTPA, APTX
8ataxia10.6
9neuronitis10.5
10spinocerebellar degeneration and corneal dystrophy10.5
11machado-joseph disease10.5ATXN3
12adrenoleukodystrophy10.4
13neuronal intranuclear inclusion disease10.4RPS27A
14spinocerebellar ataxia 710.3CHERP, ATXN2
15ataxia with vitamin e deficiency10.3APTX, TTPA
16motor neuron disease10.3
17cerebritis10.3
18neuropathy10.3
19ataxias and cerebellar or spinocerebellar degeneration10.3
20doid:401910.3TTPA, APTX
21olivopontocerebellar atrophy10.3ATXN2, GLUD1
22apraxia10.3APTX, TTPA
23huntington disease10.2ATXN3, ATXN1
24dysphagia10.2ATXN1, ATXN3
25langerhans-cell histiocytosis10.2
26histiocytosis10.2
27blindness10.2
28hepatic encephalopathy10.2CHERP, ATXN3
29cerebellar degeneration10.1ATXN2, CACNA1A
30asthma10.1
31wilson disease10.1
32hypobetalipoproteinemia10.1
33celiac disease10.1
34dejerine-sottas disease10.1
35roussy-levy syndrome10.1
36hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency10.1
37charcot-marie-tooth disease10.1
38hemolytic anemia10.1
39hepatitis10.1
40hereditary spastic paraplegia10.1
41facial hemiatrophy10.1
42blind loop syndrome10.1
43hypoglycemia10.1
44amenorrhea10.1
45cerebrovascular disease10.1
46corneal dystrophy10.1
47gangliosidosis10.1
48hereditary sensory neuropathy10.1
49laryngitis10.1
50paraplegia10.1

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



Diseases related to spinocerebellar degeneration

Symptoms for Spinocerebellar Degeneration

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Drugs & Therapeutics for Spinocerebellar Degeneration

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Drug clinical trials:

Search ClinicalTrials for Spinocerebellar Degeneration

Search NIH Clinical Center for Spinocerebellar Degeneration

Genetic Tests for Spinocerebellar Degeneration

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Anatomical Context for Spinocerebellar Degeneration

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MalaCards organs/tissues related to Spinocerebellar Degeneration:

31
Eye, Cerebellum, Testes, Bone, Brain, Skin

Animal Models for Spinocerebellar Degeneration or affiliated genes

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MGI Mouse Phenotypes related to Spinocerebellar Degeneration:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053898.3ANP32A, PRL, TTPA, ATXN2, ABCD1, CACNA1A
2MP:00053767.1CD36, TDP1, GLUD1, CACNA1A, PRL, APTX
3MP:00053866.6ANP32A, ATXN1, ATXN3, ATXN2, TTPA, CD36
4MP:00036316.5TDP1, ATXN1, ATXN3, ATXN2, TTPA, CBLN3

Publications for Spinocerebellar Degeneration

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Articles related to Spinocerebellar Degeneration:

(show top 50)    (show all 139)
idTitleAuthorsYear
1
"Cerebellar peduncle quarter notes" formed by the superior and middle cerebellar peduncles: comparison with a diffusion tensor study of spinocerebellar degeneration. (25749832)
2015
2
Quantitative analysis of upper-limb ataxia in patients with spinocerebellar degeneration. (24781836)
2014
3
Progressive cerebellar atrophy: hereditary ataxias and disorders with spinocerebellar degeneration. (23622410)
2013
4
Anesthetic management of a patient with spinocerebellar degeneration. (21772692)
2011
5
Difference in the effects of tandospirone on ataxia in various types of spinocerebellar degeneration: an open-label study. (20809107)
2010
6
Tract-by-tract morphometric and diffusivity analyses in vivo of spinocerebellar degeneration. (19021844)
2009
7
Analysis of subjective evaluations of the functions of tele-coaching intervention in patients with spinocerebellar degeneration. (18525137)
2008
8
Influence of repetitive transcranial magnetic stimulation on disease severity and oxidative stress markers in the cerebrospinal fluid of patients with spinocerebellar degeneration. (15845214)
2005
9
Spinocerebellar degeneration with negative electroretinogram: dysfunction of the bipolar cells. (15573948)
2004
10
Spinocerebellar degeneration. (14521474)
2003
11
Nystagmus-sensation dissociation in spinocerebellar degeneration. (14606594)
2003
12
Double-blind crossover study of branched-chain amino acid therapy in patients with spinocerebellar degeneration. (11897246)
2002
13
Reduced pre-movement facilitation of motor evoked potentials in spinocerebellar degeneration. (11440743)
2001
14
Therapeutic efficacy of transcranial magnetic stimulation for hereditary spinocerebellar degeneration. (10674722)
1999
15
CNS sequelae in Langerhans cell histiocytosis: progressive spinocerebellar degeneration as a late manifestation of the disease. (9383811)
1997
16
Association of the mitochondrial 8344 MERRF mutation with maternally inherited spinocerebellar degeneration and Leigh disease. (8559379)
1996
17
Spinocerebellar degeneration and cerebral hypomyelination in a family. (7573169)
1995
18
Cerebellin in the cerebellum in spinocerebellar degeneration]. (7495612)
1995
19
Effect of thyrotropin-releasing hormone (TRH) on cerebral blood flow in spinocerebellar degeneration and cerebrovascular disease. (8956461)
1995
20
Three frequency component waveforms of auditory evoked brainstem response in spinocerebellar degeneration. (8203243)
1994
21
Stepping analysis in patients with spinocerebellar degeneration and Parkinson's disease. (8379300)
1993
22
Neuro-otological findings in patients with spinocerebellar degeneration: with special regard to the duration of illness. (8216044)
1993
23
Partially deficient glutamate dehydrogenase activity and attenuated oscillatory potentials in patients with spinocerebellar degeneration. (1740378)
1992
24
Spinocerebellar degeneration. (2056261)
1991
25
Cross-correlation function in the analysis of auditory brainstem response in spinocerebellar degeneration. (1793387)
1991
26
Magnetic resonance imaging in adrenoleukodystrophy presenting as spinocerebellar degeneration. (2391533)
1990
27
Electron spin resonance studies of erythrocyte membrane in spinocerebellar degeneration. (2544683)
1989
28
Comparative study on computed tomography and neurotological findings in spinocerebellar degeneration. (2635544)
1989
29
Spinocerebellar degeneration and neuropeptides. (2517445)
1989
30
Hypertrophic neuropathy in spinocerebellar degeneration. Morphological study of the superficial peroneal nerve in fourteen cases. (3481153)
1987
31
New type of spinocerebellar degeneration syndrome in a northern Swedish population. (3480086)
1987
32
Evaluation of supra- and infratentorial brain atrophy by computerised tomography in spinocerebellar degeneration. (3464789)
1986
33
Immunocytochemical binding to neurons of serum from spinocerebellar degeneration patients. (3474274)
1986
34
Familial spinocerebellar degeneration with corneal dystrophy. (3872072)
1985
35
Celiac disease and spinocerebellar degeneration with normal vitamin E status. (4022355)
1985
36
Scanning electron microscopy studies of erythrocytes in spinocerebellar degeneration. (6707672)
1984
37
Glutamate and pyruvate dehydrogenase deficiency in spinocerebellar degeneration. (6437168)
1984
38
Characteristics of gait ataxia in spinocerebellar degeneration assessed by means of simple quantitative method. (7169199)
1982
39
Spinocerebellar degeneration with divergence paralysis as the earliest sign. (7204104)
1980
40
A spinocerebellar degeneration with X-linked inheritance. (427531)
1979
41
Spinocerebellar degeneration: hexosaminidase A and B deficiency in two adult sisters. (571983)
1979
42
Platelet taurine uptake in spinocerebellar degeneration. (647487)
1978
43
Absence of REM sleep and altered non-REM sleep in patients with spinocerebellar degeneration and slow saccades. (757063)
1978
44
Lower motor neuron disease with spinocerebellar degeneration. (617594)
1977
45
Slow saccades in spinocerebellar degeneration. (1083233)
1976
46
An autosomal dominant form of necrotizing encephalomyelopathy resembling a spinocerebellar degeneration. (1226640)
1975
47
Familial spinocerebellar degeneration, hemolytic anemia, and glutathione deficiency. (4852017)
1974
48
The Chediak-Higashi-Steinbrinck syndrome. Presentation of three cases with features resembling spinocerebellar degeneration. (5156632)
1971
49
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
50
NERVE CONDUCTION TIMES IN NEUROLOGICAL DIAGNOSIS. EVIDENCE OF NEUROPATHIC COMPONENT IN SOME CASES OF SPINOCEREBELLAR DEGENERATION. (14048114)
1963

Variations for Spinocerebellar Degeneration

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Expression for genes affiliated with Spinocerebellar Degeneration

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Search GEO for disease gene expression data for Spinocerebellar Degeneration.

Pathways for genes affiliated with Spinocerebellar Degeneration

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Pathways related to Spinocerebellar Degeneration according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.4S100A6, PRL

Compounds for genes affiliated with Spinocerebellar Degeneration

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Compounds related to Spinocerebellar Degeneration according to GeneCards Suite gene sharing:

(show all 16)
idCompoundScoreTop Affiliating Genes
1perphenazine28 43 49 1212.9GLUD1, PRL
2alpha tocopherol439.9APTX, CD36, TTPA
3glutaraldehyde439.8CD36, GLUD1
4carbamazepine43 49 1211.7CD36, PRL, GLUD1
5polyacrylamide439.7ATXN2, GLUD1, ATXN3
6glycerol43 24 1211.6CD36, GLUD1, RPS27A
7arginine439.3GLUD1, RPS27A, TTPA, PRL, ABCD1
8palmitate439.2S100A6, RPS27A, ABCD1, CD36
9dexamethasone43 49 28 1212.1GLUD1, RPS27A, PRL, CD36
10lysine439.0CACNA1A, GLUD1, S100A6, RPS27A
11atp43 2810.0GLUD1, S100A6, ABCD1, TTPA, RPS27A
12epinephrine43 24 1210.9RPS27A, PRL, CBLN3
13cysteine438.8RPS27A, S100A6, ATXN3, GLUD1, CD36
14estrogen438.4PRL, ANP32A, RPS27A, S100A6, CD36
15testosterone43 59 24 1210.5S100A6, ATXN1, CHERP, PRL, RPS27A, ATXN3
16glutamine436.9GLUD1, ANP32A, CACNA1A, ATXN1, ATXN3, TTPA

GO Terms for genes affiliated with Spinocerebellar Degeneration

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Cellular components related to Spinocerebellar Degeneration according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1nucleoplasmGO:00056548.8RPS27A, ANP32A, APTX, ATXN3, ATXN1
2perinuclear region of cytoplasmGO:00484717.7ABCD1, ATXN2, CHERP, ANP32A, S100A6
3cytoplasmGO:00057376.1TDP1, ABCD1, ATXN1, ATXN3, ATXN2, APTX

Biological processes related to Spinocerebellar Degeneration according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1single strand break repairGO:00000129.9TDP1, APTX
2cerebellar Purkinje cell differentiationGO:00217029.6ATXN2, CACNA1A
3RNA metabolic processGO:00160709.0RPS27A, ANP32A, ATXN2
4small molecule metabolic processGO:00442818.8CD36, GLUD1, CACNA1A, RPS27A, ABCD1
5cell deathGO:00082198.7TDP1, CACNA1A, APTX, ATXN2, ATXN3, ATXN1

Molecular functions related to Spinocerebellar Degeneration according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1identical protein bindingGO:00428029.4GLUD1, ATXN3, ATXN1, ABCD1
2protein bindingGO:00055155.5TDP1, ABCD1, ATXN1, ATXN3, ATXN2, APTX

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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet