MJD
MCID: SPN065
MIFTS: 43

Spinocerebellar Ataxia Type 3 (MJD) malady

Neuronal diseases category

Summaries for Spinocerebellar Ataxia Type 3

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21Genetics Home Reference, 42NIH Rare Diseases, 43NINDS, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 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 Proteolysis Putative ubiquitin pathway and Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer. The compounds ndga and buthionine sulfoximine have been mentioned in the context of this disorder. Affiliated tissues include eye, tongue and brain.

Genetics Home Reference:21 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.

NINDS:43 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.

Description from OMIM:46 109150

GeneReviews summary for sca3

Aliases & Classifications for Spinocerebellar Ataxia Type 3

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63Wikipedia, 19GeneReviews, 21Genetics Home Reference, 43NINDS, 46OMIM, 10DISEASES, 44Novoseek, 60UMLS, 42NIH Rare Diseases, 20GeneTests
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Classifications:

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


Aliases & Descriptions:

spinocerebellar ataxia type 3 63 19 21
machado-joseph disease 63 19 21 43 46 10 44 60
mjd 19 42 21
spinocerebellar ataxia 3 42 20
azorean ataxia 19 21
sca3 42 21
nigrospinodentatal degeneration 42
azorean neurologic disease 42
machado joseph disease 42
azorean disease 21
sca 3 19


Related Diseases for Spinocerebellar Ataxia Type 3

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17GeneCards, 18GeneDecks
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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 29
Spinocerebellar Ataxia 27 Spinocerebellar Ataxia 34
Spinocerebellar Ataxia 18 Spinocerebellar Ataxia 19
Spinocerebellar Ataxia 21 Spinocerebellar Ataxia 23
Spinocerebellar Ataxia 25 Spinocerebellar Ataxia 26
Spinocerebellar Ataxia 30 Spinocerebellar Ataxia 31
Spinocerebellar Ataxia 4 Spinocerebellar Ataxia 5
Spinocerebellar Ataxia 9 Spinocerebellar Ataxia 32
Spinocerebellar Ataxia 36 Spinocerebellar Ataxia 35

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

(show top 50)    (show all 78)
idRelated DiseaseScoreTop Affiliating Genes
1spinocerebellar ataxia31.7CHERP, ATXN1, ATXN3
2dentatorubral-pallidoluysian atrophy30.9ATXN3, ATXN1
3olivopontocerebellar atrophy30.6ATXN3, ATXN1, CHERP
4dementia30.5HSPB1
5motor neuron disease30.5HSPB1, SOD2
6spinocerebellar degeneration30.5ATXN3, ATXN1, CHERP
7hereditary ataxia30.3ATXN3, ATXN1
8multiple sclerosis30.3HSPB1
9neuropathy30.3SOD2
10huntington's disease30.2CHERP, ATXN1, ATXN3
11spinocerebellar ataxia type 729.9CHERP
12machado-joseph disease10.8
13brain disease10.8
14sleep disorder10.6
15neuronitis10.5
16spinocerebellar ataxia type 610.5
17autosomal dominant disease10.5
18multiple system atrophy10.5
19nervous system disease10.5
20neurologic diseases10.5
21machado-joseph disease type 110.5
22machado-joseph disease type 310.5
23machado-joseph disease type 210.5
24cerebellar ataxia10.4
25rem sleep behavior disorder10.4
26hereditary spastic paraplegia10.4
27muscular atrophy10.4
28paraplegia10.4
29peripheral nervous system disease10.4
30spinal muscular atrophy10.4
31vestibular disease10.4
32cerebellar disease10.3
33myotonic disease10.3
34myotonic dystrophy10.3
35myotonic dystrophy type 110.3
36spinocerebellar ataxia type 1410.3
37spinocerebellar ataxia x-linked type 310.3
38thalamic disease10.2
39cerebritis10.2
40restless legs syndrome10.2
41azoospermia10.2
42autosomal genetic disease10.2
43central nervous system disease10.2
44complex regional pain syndrome10.2
45eyelid disease10.2
46glucose metabolism disease10.2
47polyneuropathy10.2
48retinal degeneration10.2
49retinal disease10.2
50retinitis10.2

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



Diseases related to spinocerebellar ataxia type 3

Clinical Features for Spinocerebellar Ataxia Type 3

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46OMIM
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Clinical features from OMIM:

109150

Clinical synopsis from OMIM:

109150

Drugs & Therapeutics for Spinocerebellar Ataxia Type 3

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

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Drug clinical trials:

Search ClinicalTrials for Spinocerebellar Ataxia Type 3

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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20GeneTests
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Genetic tests related to Spinocerebellar Ataxia Type 3:

id Genetic test Affiliating Genes
1 Spinocerebellar Ataxia Type 320 ATXN3

Anatomical Context for Spinocerebellar Ataxia Type 3

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32MalaCards
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MalaCards organs/tissues related to Spinocerebellar Ataxia Type 3:

32
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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50PubMed
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Articles related to Spinocerebellar Ataxia Type 3:

(show top 50)    (show all 94)
idTitleAuthorsYear
1
Cognitive dysfunction in spinocerebellar ataxia type 3: Variable topographies and patterns. (24338620)
2014
2
Progressive cognitive dysfunction in spinocerebellar ataxia type 3. (23736996)
2013
3
Postural dysfunction in a transgenic mouse model of spinocerebellar ataxia type 3. (23567815)
2013
4
Chinese patients with spinocerebellar ataxia type 3 presenting with rare clinical symptoms. (23174085)
2013
5
Schwann cell involvement in the peripheral neuropathy of spinocerebellar ataxia type 3. (23617879)
2013
6
A multimodal evaluation of microstructural white matter damage in spinocerebellar ataxia type 3. (23553599)
2013
7
"Mimicking" capacity of spinocerebellar ataxia type 3: the details matter. (23415547)
2013
8
Ataxin-3 protein modification as a treatment strategy for spinocerebellar ataxia type 3: removal of the CAG containing exon. (23659897)
2013
9
Ataxin-3 Protein and RNA Toxicity in Spinocerebellar Ataxia Type 3: Current Insights and Emerging Therapeutic Strategies. (24293103)
2013
10
Multiple saccadic abnormalities in spinocerebellar ataxia type 3 can be linked to a single deficiency in velocity feedback. (23249708)
2013
11
Differences in dysphagia between spinocerebellar ataxia type 3 and type 6. (23515636)
2013
12
Cerebellar soluble mutant ataxin-3 level decreases during disease progression in Spinocerebellar Ataxia Type 3 mice. (23626768)
2013
13
Mouse models of spinocerebellar ataxia type 3 (Machado-Joseph disease). (22451301)
2012
14
A randomized trial of varenicline (chantix) for the treatment of spinocerebellar ataxia type 3. (23183282)
2012
15
Cellular protein quality control and the evolution of aggregates in spinocerebellar ataxia type 3 (SCA3). (21916928)
2012
16
Pathoanatomy of cerebellar degeneration in spinocerebellar ataxia type 2 (SCA2) and type 3 (SCA3). (22198871)
2012
17
A randomized trial of varenicline (Chantix) for the treatment of spinocerebellar ataxia type 3. (22565570)
2012
18
Quantitative assessment of brain stem and cerebellar atrophy in spinocerebellar ataxia types 3 and 6: impact on clinical status. (21372168)
2011
19
An improved polymerase chain reaction method for genetic testing of spinocerebellar ataxia type 3. (22232931)
2011
20
Electronystagmography findings in spinocerebellar ataxia type 3 (SCA3) and type 2 (SCA2). (22042177)
2011
21
Early changes in cerebellar physiology accompany motor dysfunction in the polyglutamine disease spinocerebellar ataxia type 3. (21900579)
2011
22
Transcranial sonography findings in spinocerebellar ataxia type 3 (Machado-Joseph disease): a cross-sectional study. (21939734)
2011
23
FOXO4-dependent upregulation of superoxide dismutase-2 in response to oxidative stress is impaired in spinocerebellar ataxia type 3. (21536589)
2011
24
A transgenic mouse model of spinocerebellar ataxia type 3 resembling late disease onset and gender-specific instability of CAG repeats. (19699305)
2010
25
Levels of DNAJB family members (HSP40) correlate with disease onset in patients with spinocerebellar ataxia type 3. (20726892)
2010
26
Masseter reflex in the study of spinocerebellar ataxia type 2 and type 3. (19618433)
2009
27
Spinocerebellar ataxias types 1, 2 and 3: age adjusted clinical severity of disease at presentation correlates with size of CAG repeat lengths. (19049837)
2009
28
Treatment of ataxia and imbalance with varenicline (chantix): report of 2 patients with spinocerebellar ataxia (types 3 and 14). (19050414)
2008
29
Early symptoms in spinocerebellar ataxia type 1, 2, 3, and 6. (18759344)
2008
30
Involvement of the auditory brainstem system in spinocerebellar ataxia type 2 (SCA2), type 3 (SCA3) and type 7 (SCA7). (18221259)
2008
31
Homozygosity enhances severity in spinocerebellar ataxia type 3. (18358414)
2008
32
Association of spinocerebellar ataxia type 3 and spinocerebellar ataxia type 8 microsatellite expansions: genetic counseling implications. (17987652)
2008
33
Spinal cord atrophy in spinocerebellar ataxia type 3 and 6 : impact on clinical disability. (18506570)
2008
34
Lack of mutations in spinocerebellar ataxia type 2 and 3 genes in a Taiwanese (ethnic Chinese) cohort of familial and early-onset parkinsonism. (17440947)
2007
35
Dissociation of grey and white matter reduction in spinocerebellar ataxia type 3 and 6: a voxel-based morphometry study. (17005321)
2006
36
Neuronal intranuclear inclusions, dysregulation of cytokine expression and cell death in spinocerebellar ataxia type 3. (17140157)
2006
37
Botulinum toxin type A for treatment of spasticity in spinocerebellar ataxia type 3 (Machado-Joseph disease). (15747361)
2005
38
The parkinsonian phenotype of spinocerebellar ataxia type 3 in a Taiwanese family. (15261879)
2004
39
Transcranial sonography in spinocerebellar ataxia type 3. (15354398)
2004
40
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
41
The nucleus raphe interpositus in spinocerebellar ataxia type 3 (Machado-Joseph disease). (12663059)
2003
42
Spinocerebellar ataxia type 3 presenting as an L-DOPA responsive dystonia phenotype in a Chinese family. (12873751)
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
Spinocerebellar ataxia type 3 phenotypically resembling parkinson disease in a black family. (11176969)
2001
47
Characterization of the rat spinocerebellar ataxia type 3 gene. (10732811)
1997
48
Machado Joseph disease maps to the same region of chromosome 14 as the spinocerebellar ataxia type 3 locus. (7897622)
1995
49
Spinocerebellar ataxia, type 3 (SCA3) is genetically identical to Machado-Joseph disease (MJD). (8523034)
1995
50
Spinocerebellar Ataxia Type 3 (20301375)
1993

Genetic Variations for Spinocerebellar Ataxia Type 3

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Expression for genes affiliated with Spinocerebellar Ataxia Type 3

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Spinocerebellar Ataxia Type 3

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Pathways for genes affiliated with Spinocerebellar Ataxia Type 3

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12EMD Millipore, 53Reactome, 37NCBI BioSystems Database
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Compounds for genes affiliated with Spinocerebellar Ataxia Type 3

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44Novoseek, 59Tocris Bioscience, 11DrugBank, 24HMDB
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Compounds related to Spinocerebellar Ataxia Type 3 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1ndga449.6SOD2, HSPB1
2buthionine sulfoximine449.5SOD2, HSPB1
3polyacrylamide449.0ATXN3, SOD2, HSPB1
4testosterone44 59 11 2411.4SOD2, ATXN3, ATXN1, CHERP
5glutamine448.0CHERP, ATXN1, ATXN3, SOD2, HSPB1

GO Terms for genes affiliated with Spinocerebellar Ataxia Type 3

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16Gene Ontology
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Cellular components related to Spinocerebellar Ataxia Type 3 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nuclear inclusion bodyGO:0424059.5ATXN1, ATXN3
2nucleoplasmGO:0056548.2ATXN1, ATXN3, FOXO4, UBC
3cytoplasmGO:0057377.3FOXO4, USP15, ATXN3, ATXN1, CHERP, HSPB1

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

idNameGO IDScoreTop Affiliating Genes
1monoubiquitinated protein deubiquitinationGO:0355209.9ATXN3, USP15
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:0305129.3USP15, UBC
4cell deathGO:0082199.2ATXN1, ATXN3, HSPB1
5RNA processingGO:0063969.1CHERP, ATXN1
6negative regulation of cell proliferationGO:0082858.5SOD2, FOXO4, CHERP

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

idNameGO IDScoreTop Affiliating Genes
1ubiquitin-specific protease activityGO:0048439.8ATXN3, USP15
2identical protein bindingGO:0428028.1ATXN1, ATXN3, USP15, SOD2, HSPB1

Products for genes affiliated with Spinocerebellar Ataxia Type 3

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Sources for Spinocerebellar Ataxia Type 3

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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