MJD
MCID: SPN065
MIFTS: 50

Spinocerebellar Ataxia Type 3 (MJD) malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Mental diseases, Skin diseases, Muscle diseases categories

Summaries for Spinocerebellar Ataxia Type 3

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44NIH Rare Diseases, 45NINDS, 22Genetics Home Reference, 48OMIM, 20GeneReviews, 34MalaCards
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NIH Rare Diseases:44 Spinocerebellar ataxia 3 is a rare movement disorder that is characterized by ataxia, clumsiness and weakness in the arms and legs, spasticity, a staggering lurching walk easily mistaken for drunkenness, difficulty with speech and swallowing, involuntary eye movements, double vision, and frequent urination. some patients have dystonia or symptoms similar to those of parkinson's disease. others have twitching of the face or tongue, or bulging eyes. symptoms can begin any time between early adolescence and about 70 years of age. spinocerebellar ataxia 3 is a progressive disease, meaning that symptoms get worse with time. life expectancy ranges from the mid-thirties for those with severe forms of the disorder to a normal life expectancy for those with mild forms. spinocerebellar ataxia is inherited in an autosomal dominant pattern and is caused by a trinucleotide repeat expansion in the ataxin-3 gene (atxn3). last updated: 5/5/2009

MalaCards: Spinocerebellar Ataxia Type 3, also known as machado-joseph disease, is related to spinocerebellar ataxia and dentatorubral-pallidoluysian atrophy. An important gene associated with Spinocerebellar Ataxia Type 3 is ATXN3 (ataxin 3), and among its related pathways are Loss of Function of SMAD2/3 in Cancer and Ubiquitin-Proteasome Dependent Proteolysis. The compounds buthionine sulfoximine and ndga have been mentioned in the context of this disorder. Affiliated tissues include eye, tongue and brain.

NINDS:45 Machado-Joseph disease (MJD), which is also called spinocerebellar ataxia type 3, is a rare hereditary ataxia (ataxia is a medical term meaning lack of muscle control). The disease is characterized by slowly progressive clumsiness and weakness in the arms and legs, spasticity, a staggering lurching gait easily mistaken for drunkenness, difficulty with speech and swallowing, involuntary eye movements, double vision, and frequent urination. Some individuals also have dystonia (sustained muscle contractions that cause twisting of the body and limbs, repetitive movements, abnormal postures, and rigidity) or symptoms similar to those of Parkinson's disease. Others have twitching of the face or tongue, or peculiar bulging eyes.

Genetics Home Reference:22 Spinocerebellar ataxia type 3 (SCA3) is a condition characterized by progressive problems with movement. People with this condition initially experience problems with coordination and balance (ataxia). Other early signs and symptoms of SCA3 include speech difficulties, uncontrolled muscle tensing (dystonia), muscle stiffness (spasticity), rigidity, tremors, bulging eyes, and double vision. People with this condition may experience sleep disorders such as restless leg syndrome or REM sleep behavior disorder. Restless leg syndrome is a condition characterized by numbness or tingling in the legs accompanied by an urge to move the legs to stop the sensations. REM sleep behavior disorder is a condition in which the muscles are active during the dream (REM) stage of sleep, so an affected person often acts out his or her dreams. These sleep disorders tend to leave affected individuals feeling tired during the day.

Description from OMIM:48 109150

GeneReviews summary for sca3

Aliases & Classifications for Spinocerebellar Ataxia Type 3

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66Wikipedia, 20GeneReviews, 44NIH Rare Diseases, 21GeneTests, 22Genetics Home Reference, 45NINDS, 48OMIM, 11DISEASES, 46Novoseek, 63UMLS
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Classifications:



Aliases & Descriptions:

spinocerebellar ataxia type 3 66 20 22
machado-joseph disease 66 20 22 45 48 11 46 63
mjd 20 44 22
spinocerebellar ataxia 3 44 21
azorean ataxia 20 22
sca3 44 22
nigrospinodentatal degeneration 44
spinocerebellar atrophy type 3 44
azorean neurologic disease 44
machado joseph disease 44
spinopontine atrophy 44
azorean disease 22
sca 3 20


Related Diseases for Spinocerebellar Ataxia Type 3

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18GeneCards, 19GeneDecks
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Diseases in the Spinocerebellar Ataxia Type 6 family:

Spinocerebellar Ataxia spinocerebellar ataxia type 3
Spinocerebellar Ataxia Type 7 Spinocerebellar Ataxia Type 8
Spinocerebellar Ataxia Type 10 Spinocerebellar Ataxia Type 11
Spinocerebellar Ataxia Type 12 Spinocerebellar Ataxia Type 13
Spinocerebellar Ataxia Type 14 Spinocerebellar Ataxia Type 15
Spinocerebellar Ataxia Type 17 Spinocerebellar Ataxia Type 20
Spinocerebellar Ataxia Type 28 Spinocerebellar Ataxia 18
Spinocerebellar Ataxia 19 Spinocerebellar Ataxia 21
Spinocerebellar Ataxia 23 Spinocerebellar Ataxia 25
Spinocerebellar Ataxia 26 Spinocerebellar Ataxia 27
Spinocerebellar Ataxia 29 Spinocerebellar Ataxia 30
Spinocerebellar Ataxia 31 Spinocerebellar Ataxia 34
Spinocerebellar Ataxia 4 Spinocerebellar Ataxia 5
Spinocerebellar Ataxia 9 Spinocerebellar Ataxia 32
Spinocerebellar Ataxia 36 Spinocerebellar Ataxia 35
Spinocerebellar Ataxia Type 37

Diseases related to Spinocerebellar Ataxia Type 3 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 64)
idRelated DiseaseScoreTop Affiliating Genes
1spinocerebellar ataxia31.8ATXN1, ATXN3
2dentatorubral-pallidoluysian atrophy31.0ATXN1, ATXN3
3multiple system atrophy30.7ATXN3, ATXN1
4olivopontocerebellar atrophy30.7ATXN3, CHERP, ATXN1
5neuropathy30.4SOD2
6hereditary ataxia30.4ATXN1, ATXN3
7dysphagia30.4ATXN3, ATXN1
8motor neuron disease30.3SOD2, HSPB1
9huntington's disease30.3CHERP, ATXN3, ATXN1
10ataxia11.2
11machado-joseph disease10.8
12cerebellar ataxia10.6
13autonomic dysfunction10.5
14neuronitis10.5
15machado-joseph disease type 110.5
16machado-joseph disease type 310.5
17machado-joseph disease type 210.5
18hereditary spastic paraplegia10.4
19muscular atrophy10.4
20rem sleep behavior disorder10.4
21dementia10.4
22paraplegia10.4
23sleep disorder10.4
24dystonia10.4
25spinocerebellar ataxia x-linked type 310.4
26cerebritis10.2
27restless legs syndrome10.2
28azoospermia10.2
29complex regional pain syndrome10.2
30multiple sclerosis10.2
31polyneuropathy10.2
32retinal degeneration10.2
33retinitis10.2
34vaginitis10.2
35brachydactylous dwarfism mseleni type10.2
36cerebellar degeneration10.2
37cerebello-olivary atrophy10.2
38paine syndrome10.2
39spastic paraparesis10.2
40chronic pain10.2
41dysautonomia10.2
42myoclonus10.2
43spinocerebellar atrophy10.2
44blindness10.2
45episodic ataxia10.2
46muscular dystrophy10.2
47myotonic dystrophy10.2
48peripheral neuropathy10.2
49myotonic dystrophy type 110.2
50episodic ataxia type 210.2

Graphical network of the top 20 diseases related to Spinocerebellar Ataxia Type 3:



Diseases related to spinocerebellar ataxia type 3

Symptoms for Spinocerebellar Ataxia Type 3

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48OMIM
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Symptoms by clinical synopsis from OMIM:

109150

Clinical features from OMIM:

109150

Drugs & Therapeutics for Spinocerebellar Ataxia Type 3

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Spinocerebellar Ataxia Type 3

Search CenterWatch for Spinocerebellar Ataxia Type 3

Genetic Tests for Spinocerebellar Ataxia Type 3

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21GeneTests
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Genetic tests related to Spinocerebellar Ataxia Type 3:

id Genetic test Affiliating Genes
1 Spinocerebellar Ataxia Type 321 ATXN3

Anatomical Context for Spinocerebellar Ataxia Type 3

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34MalaCards
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MalaCards organs/tissues related to Spinocerebellar Ataxia Type 3:

34
Eye, Tongue, Brain, Spinal cord, Testes

Animal Models for Spinocerebellar Ataxia Type 3 or affiliated genes

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Publications for Spinocerebellar Ataxia Type 3

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53PubMed
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Articles related to Spinocerebellar Ataxia Type 3:

(show top 50)    (show all 78)
idTitleAuthorsYear
1
Progressive cognitive dysfunction in spinocerebellar ataxia type 3. (23736996)
2013
2
Postural dysfunction in a transgenic mouse model of spinocerebellar ataxia type 3. (23567815)
2013
3
Chinese patients with spinocerebellar ataxia type 3 presenting with rare clinical symptoms. (23174085)
2013
4
Widespread neuronal damage and cognitive dysfunction in spinocerebellar ataxia type 3. (23775343)
2013
5
Reply to: Cognitive dysfunction in spinocerebellar ataxia type 3: Variable topographies and patterns. (24338591)
2013
6
Schwann cell involvement in the peripheral neuropathy of spinocerebellar ataxia type 3. (23617879)
2013
7
A multimodal evaluation of microstructural white matter damage in spinocerebellar ataxia type 3. (23553599)
2013
8
"Mimicking" capacity of spinocerebellar ataxia type 3: the details matter. (23415547)
2013
9
Mouse models of spinocerebellar ataxia type 3 (Machado-Joseph disease). (22451301)
2012
10
A randomized trial of varenicline (chantix) for the treatment of spinocerebellar ataxia type 3. (23183282)
2012
11
Tremor-spectrum in spinocerebellar ataxia type 3. (22592286)
2012
12
Cellular protein quality control and the evolution of aggregates in spinocerebellar ataxia type 3 (SCA3). (21916928)
2012
13
Quantitative assessment of brain stem and cerebellar atrophy in spinocerebellar ataxia types 3 and 6: impact on clinical status. (21372168)
2011
14
An improved polymerase chain reaction method for genetic testing of spinocerebellar ataxia type 3. (22232931)
2011
15
Clinical correlates of olfactory dysfunction in spinocerebellar ataxia type 3. (21367642)
2011
16
Electronystagmography findings in spinocerebellar ataxia type 3 (SCA3) and type 2 (SCA2). (22042177)
2011
17
Early changes in cerebellar physiology accompany motor dysfunction in the polyglutamine disease spinocerebellar ataxia type 3. (21900579)
2011
18
Transcranial sonography findings in spinocerebellar ataxia type 3 (Machado-Joseph disease): a cross-sectional study. (21939734)
2011
19
A transgenic mouse model of spinocerebellar ataxia type 3 resembling late disease onset and gender-specific instability of CAG repeats. (19699305)
2010
20
Autophagy induction reduces mutant ataxin-3 levels and toxicity in a mouse model of spinocerebellar ataxia type 3. (20007218)
2010
21
Reversibility of symptoms in a conditional mouse model of spinocerebellar ataxia type 3. (19666958)
2009
22
Rational design of ligands targeting triplet repeating transcripts that cause RNA dominant disease: application to myotonic muscular dystrophy type 1 and spinocerebellar ataxia type 3. (19552411)
2009
23
Treatment of ataxia and imbalance with varenicline (chantix): report of 2 patients with spinocerebellar ataxia (types 3 and 14). (19050414)
2008
24
Deranged calcium signaling and neurodegeneration in spinocerebellar ataxia type 3. (19036964)
2008
25
Fatigue and daytime somnolence in Machado Joseph Disease (spinocerebellar ataxia type 3). (18512748)
2008
26
Homozygosity enhances severity in spinocerebellar ataxia type 3. (18358414)
2008
27
Mechanisms of vestibulo-ocular reflex (VOR) cancellation in spinocerebellar ataxia type 3 (SCA-3) and episodic ataxia type 2 (EA-2). (18718348)
2008
28
Association of spinocerebellar ataxia type 3 and spinocerebellar ataxia type 8 microsatellite expansions: genetic counseling implications. (17987652)
2008
29
Spinal cord atrophy in spinocerebellar ataxia type 3 and 6 : impact on clinical disability. (18506570)
2008
30
The mitochondrial DNA mutation in spinocerebellar ataxia type 3]. (19065528)
2008
31
Dominantly inherited ataxias: lessons learned from Machado-Joseph disease/spinocerebellar ataxia type 3. (17390258)
2007
32
Dissociation of grey and white matter reduction in spinocerebellar ataxia type 3 and 6: a voxel-based morphometry study. (17005321)
2006
33
Neuronal intranuclear inclusions, dysregulation of cytokine expression and cell death in spinocerebellar ataxia type 3. (17140157)
2006
34
Spinocerebellar ataxia type 3 (SCA3): thalamic neurodegeneration occurs independently from thalamic ataxin-3 immunopositive neuronal intranuclear inclusions. (16911479)
2006
35
HSP27 and cell death in spinocerebellar ataxia type 3. (15895556)
2005
36
The parkinsonian phenotype of spinocerebellar ataxia type 3 in a Taiwanese family. (15261879)
2004
37
Transcranial sonography in spinocerebellar ataxia type 3. (15354398)
2004
38
Dramatic levodopa responsiveness of dystonia in a sporadic case of spinocerebellar ataxia type 3. (15192175)
2004
39
Guidelines for the pathoanatomical examination of the lower brain stem in ingestive and swallowing disorders and its application to a dysphagic spinocerebellar ataxia type 3 patient. (12581335)
2003
40
The nucleus raphe interpositus in spinocerebellar ataxia type 3 (Machado-Joseph disease). (12663059)
2003
41
Spinocerebellar ataxia type 3 presenting as an L-DOPA responsive dystonia phenotype in a Chinese family. (12873751)
2003
42
Prenatal diagnosis of Machado-Joseph disease/Spinocerebellar Ataxia Type 3 in Taiwan: early detection of expanded ataxin-3. (12938149)
2003
43
Thalamic involvement in a spinocerebellar ataxia type 2 (SCA2) and a spinocerebellar ataxia type 3 (SCA3) patient, and its clinical relevance. (12847080)
2003
44
Vestibulo-ocular arreflexia in families with spinocerebellar ataxia type 3 (Machado-Joseph disease). (14570834)
2003
45
Presumed rapid eye movement behavior disorder in Machado-Joseph disease (spinocerebellar ataxia type 3). (12465081)
2002
46
Degeneration of the external cuneate nucleus in spinocerebellar ataxia type 3 (Machado-Joseph disease). (12384246)
2002
47
Inflammatory genes are upregulated in expanded ataxin-3-expressing cell lines and spinocerebellar ataxia type 3 brains. (11466410)
2001
48
Repeat length and disease progression in spinocerebellar ataxia type 3. (8814012)
1996
49
Machado Joseph disease maps to the same region of chromosome 14 as the spinocerebellar ataxia type 3 locus. (7897622)
1995
50
Spinocerebellar Ataxia Type 3 (20301375)
1993

Variations for Spinocerebellar Ataxia Type 3

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Expression for genes affiliated with Spinocerebellar Ataxia Type 3

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Spinocerebellar Ataxia Type 3

Search GEO for disease gene expression data for Spinocerebellar Ataxia Type 3.

Pathways for genes affiliated with Spinocerebellar Ataxia Type 3

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51PathCards, 56Reactome, 54QIAGEN, 39NCBI BioSystems Database, 61Thomson Reuters
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Compounds for genes affiliated with Spinocerebellar Ataxia Type 3

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46Novoseek, 62Tocris Bioscience, 25HMDB, 12DrugBank
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Compounds related to Spinocerebellar Ataxia Type 3 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1buthionine sulfoximine469.7HSPB1, SOD2
2ndga469.7SOD2, HSPB1
3manganese superoxide469.6HSPB1, SOD2
4neomycin469.6SOD2, HSPB1
5c2ceramide469.5HSPB1, SOD2
6polyacrylamide469.4SOD2, HSPB1, ATXN3
7malondialdehyde469.3SOD2, HSPB1
8testosterone46 62 25 1211.5ATXN1, ATXN3, SOD2, CHERP
9glutamine468.1CHERP, SOD2, HSPB1, ATXN3, ATXN1

GO Terms for genes affiliated with Spinocerebellar Ataxia Type 3

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17Gene Ontology
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Cellular components related to Spinocerebellar Ataxia Type 3 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nuclear matrixGO:0163639.6ATXN3, ATXN1
2nucleoplasmGO:0056548.2ATXN1, ATXN3, FOXO4, UBC
3cytoplasmGO:0057377.3FOXO4, CHERP, HSPB1, USP15, ATXN3, ATXN1

Biological processes related to Spinocerebellar Ataxia Type 3 according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1monoubiquitinated protein deubiquitinationGO:0355209.9USP15, ATXN3
2negative regulation of intrinsic apoptotic signaling pathway in response to oxidative stressGO:19021769.7SOD2, HSPB1
3negative regulation of transforming growth factor beta receptor signaling pathwayGO:0305129.6UBC, USP15
4cell deathGO:0082199.3HSPB1, ATXN3, ATXN1
5RNA processingGO:0063969.0CHERP, ATXN1
6negative regulation of apoptotic processGO:0430668.6UBC, FOXO4, HSPB1
7negative regulation of cell proliferationGO:0082858.6SOD2, CHERP, FOXO4

Molecular functions related to Spinocerebellar Ataxia Type 3 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ubiquitin thiolesterase activityGO:0042219.7USP15, ATXN3
2ubiquitin-specific protease activityGO:0048439.5ATXN3, USP15
3identical protein bindingGO:0428028.4SOD2, HSPB1, USP15, ATXN3, ATXN1
4protein bindingGO:0055157.2UBC, FOXO4, CHERP, HSPB1, ATXN3, ATXN1

Products for genes affiliated with Spinocerebellar Ataxia Type 3

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Sources for Spinocerebellar Ataxia Type 3

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet