MCID: SPN050
MIFTS: 46

Spinocerebellar Degeneration malady

Neuronal diseases category
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Summaries for Spinocerebellar Degeneration

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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 based summary: Spinocerebellar Degeneration, also known as spino-cerebellar degenerations, is related to olivopontocerebellar atrophy and dentatorubral-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.

Wikipedia:65 Spinocerebellar ataxia (SCA) is a progressive, degenerative,genetic disease with multiple types, each of... more...

Aliases & Classifications for Spinocerebellar Degeneration

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Sources:
8Disease Ontology, 43NINDS, 44Novoseek, 62UMLS, 27ICD9CM
See all sources

Spinocerebellar Degeneration, Aliases & Descriptions:

Name: Spinocerebellar Degeneration 8 43
Spino-Cerebellar Degenerations 62
 
Spino-Cerebellar Degeneration 62
Spinocerebellar Degenerations 44


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal diseases


External Ids:

Disease Ontology8 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/GeneDecks gene sharing:

(show top 50)    (show all 66)
idRelated DiseaseScoreTop Affiliating Genes
1olivopontocerebellar atrophy30.7ATXN2, GLUD1
2dentatorubral-pallidoluysian atrophy30.5ATXN1, ATXN3, ATXN2
3parkinson's disease30.5RPS27A, CHERP, ATXN2, GLUD1
4multiple system atrophy30.0ATXN3, RPS27A, GLUD1, ATXN1
5hereditary ataxia29.9ATXN2, CACNA1A, ATXN3, ATXN1
6cerebellar ataxia29.8CACNA1A, ATXN3, TTPA, APTX, ATXN2
7spinocerebellar ataxia29.7CACNA1A, ATXN2, ATXN3, ANP32A, TDP1, ATXN1
8friedreich ataxia29.6ATXN3, CACNA1A, ATXN1, ATXN2, TTPA, APTX
9ataxia10.6
10neuronitis10.5
11machado-joseph disease10.5ATXN3
12adrenoleukodystrophy10.4
13spinocerebellar degeneration and corneal dystrophy10.4
14neuronal intranuclear inclusion disease10.4RPS27A
15spinocerebellar ataxia type 710.3CHERP, ATXN2
16ataxia with vitamin e deficiency10.3APTX, TTPA
17motor neuron disease10.3
18cerebritis10.3
19neuropathy10.3
20doid:401910.3TTPA, APTX
21apraxia10.3APTX, TTPA
22huntington's disease10.3ATXN3, ATXN1
23dysphagia10.2ATXN1, ATXN3
24langerhans-cell histiocytosis10.2
25histiocytosis10.2
26ataxias and cerebellar or spinocerebellar degeneration10.2
27blindness10.2
28hepatic encephalopathy10.2CHERP, ATXN3
29cerebellar degeneration10.1ATXN2, CACNA1A
30asthma10.1
31celiac disease10.1
32charcot-marie-tooth disease10.1
33diabetes mellitus10.1
34hemolytic anemia10.1
35hepatitis10.1
36hereditary spastic paraplegia10.1
37wilson disease10.1
38facial hemiatrophy10.1
39hypobetalipoproteinemia10.1
40amenorrhea10.1
41hypoglycemia10.1
42blind loop syndrome10.1
43leigh disease10.1
44cerebrovascular disease10.1
45corneal dystrophy10.1
46gangliosidosis10.1
47hereditary sensory neuropathy10.1
48laryngitis10.1
49paraplegia10.1
50peripheral neuropathy10.1

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:

32
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:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053898.3ATXN2, TTPA, PRL, ANP32A, CACNA1A, ABCD1
2MP:00053767.1TTPA, ATXN2, ATXN1, ABCD1, APTX, PRL
3MP:00053866.6CD36, ABCD1, ATXN1, ATXN3, ATXN2, TTPA
4MP:00036316.5ATXN2, ATXN3, ATXN1, ABCD1, TTPA, CBLN3

Publications for Spinocerebellar Degeneration

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Articles related to Spinocerebellar Degeneration:

(show top 50)    (show all 140)
idTitleAuthorsYear
1
Quantitative analysis of upper-limb ataxia in patients with spinocerebellar degeneration. (24781836)
2014
2
Progressive cerebellar atrophy: hereditary ataxias and disorders with spinocerebellar degeneration. (23622410)
2013
3
Anesthetic management of a patient with spinocerebellar degeneration. (21772692)
2011
4
Difference in the effects of tandospirone on ataxia in various types of spinocerebellar degeneration: an open-label study. (20809107)
2010
5
Tract-by-tract morphometric and diffusivity analyses in vivo of spinocerebellar degeneration. (19021844)
2009
6
Analysis of subjective evaluations of the functions of tele-coaching intervention in patients with spinocerebellar degeneration. (18525137)
2008
7
Influence of repetitive transcranial magnetic stimulation on disease severity and oxidative stress markers in the cerebrospinal fluid of patients with spinocerebellar degeneration. (15845214)
2005
8
Spinocerebellar degeneration with negative electroretinogram: dysfunction of the bipolar cells. (15573948)
2004
9
Spinocerebellar degeneration. (14521474)
2003
10
Nystagmus-sensation dissociation in spinocerebellar degeneration. (14606594)
2003
11
Double-blind crossover study of branched-chain amino acid therapy in patients with spinocerebellar degeneration. (11897246)
2002
12
Reduced pre-movement facilitation of motor evoked potentials in spinocerebellar degeneration. (11440743)
2001
13
Therapeutic efficacy of transcranial magnetic stimulation for hereditary spinocerebellar degeneration. (10674722)
1999
14
CNS sequelae in Langerhans cell histiocytosis: progressive spinocerebellar degeneration as a late manifestation of the disease. (9383811)
1997
15
Association of the mitochondrial 8344 MERRF mutation with maternally inherited spinocerebellar degeneration and Leigh disease. (8559379)
1996
16
Spinocerebellar degeneration and cerebral hypomyelination in a family. (7573169)
1995
17
Cerebellin in the cerebellum in spinocerebellar degeneration]. (7495612)
1995
18
Single photon emission computed tomography using N-isopropyl-p-[123I]iodoamphetamine in spinocerebellar degeneration. (7628495)
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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Expression patterns in normal tissues for genes affiliated with Spinocerebellar Degeneration

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/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5CACNA1A, ANP32A
29.4S100A6, PRL

Compounds for genes affiliated with Spinocerebellar Degeneration

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Compounds related to Spinocerebellar Degeneration according to GeneCards/GeneDecks:

(show all 16)
idCompoundScoreTop Affiliating Genes
1perphenazine28 44 50 1112.9PRL, GLUD1
2alpha tocopherol449.9CD36, APTX, TTPA
3glutaraldehyde449.8GLUD1, CD36
4carbamazepine44 50 1111.7CD36, GLUD1, PRL
5polyacrylamide449.7GLUD1, ATXN2, ATXN3
6glycerol44 24 1111.6CD36, GLUD1, RPS27A
7arginine449.3ABCD1, TTPA, PRL, RPS27A, GLUD1
8palmitate449.2ABCD1, RPS27A, S100A6, CD36
9dexamethasone44 50 28 1112.1CD36, GLUD1, RPS27A, PRL
10lysine449.0RPS27A, CACNA1A, S100A6, GLUD1
11atp44 2810.0ABCD1, TTPA, RPS27A, S100A6, GLUD1
12epinephrine44 24 1110.9RPS27A, PRL, CBLN3
13cysteine448.8CD36, GLUD1, S100A6, RPS27A, ATXN3
14estrogen448.4CD36, S100A6, RPS27A, ANP32A, PRL
15testosterone44 61 24 1110.5ATXN1, ATXN3, CHERP, PRL, ANP32A, RPS27A
16glutamine446.9CD36, ATXN1, ATXN3, ATXN2, TTPA, CHERP

GO Terms for genes affiliated with Spinocerebellar Degeneration

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Cellular components related to Spinocerebellar Degeneration according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nucleoplasmGO:0056548.8ATXN1, ATXN3, APTX, ANP32A, RPS27A
2perinuclear region of cytoplasmGO:0484717.7S100A6, ANP32A, CHERP, ATXN2, ABCD1
3cytoplasmGO:0057376.1CHERP, ATXN3, ATXN2, APTX, ABCD1, ANP32A

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

idNameGO IDScoreTop Affiliating Genes
1single strand break repairGO:0000129.9TDP1, APTX
2cerebellar Purkinje cell differentiationGO:0217029.6ATXN2, CACNA1A
3RNA metabolic processGO:0160709.0RPS27A, ANP32A, ATXN2
4small molecule metabolic processGO:0442818.8CD36, GLUD1, CACNA1A, RPS27A, ABCD1
5cell deathGO:0082198.7TDP1, CACNA1A, APTX, ATXN2, ATXN3, ATXN1

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

idNameGO IDScoreTop Affiliating Genes
1identical protein bindingGO:0428029.4GLUD1, ATXN3, ATXN1, ABCD1
2protein bindingGO:0055155.5TDP1, ABCD1, ATXN1, ATXN3, ATXN2, APTX

Products for genes affiliated with Spinocerebellar Degeneration

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  • Antibodies
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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet