MCID: MCH002
MIFTS: 63

Machado-Joseph Disease

Categories: Genetic diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Machado-Joseph Disease

MalaCards integrated aliases for Machado-Joseph Disease:

Name: Machado-Joseph Disease 53 12 23 49 24 50 55 71 36 13 51 41 14 69
Mjd 53 12 23 49 24 55 71
Sca3 53 23 49 24 55 71
Spinocerebellar Ataxia Type 3 12 23 24 55
Spinocerebellar Ataxia 3 53 12 49 71
Nigrospinodentatal Degeneration 53 49 71
Azorean Neurologic Disease 53 49 71
Spinopontine Atrophy 53 49 69
Azorean Disease 12 24 28
Azorean Ataxia 23 24
Nigro-Spino-Dentatal Degeneration with Nuclear Ophthalmoplegia 55
Azorean Disease of the Nervous System 55
Spinocerebellar Ataxia 3; Sca3 53
Spinocerebellar Atrophy Type 3 49
Spinocerebellar Atrophy Iii 53
Spinocerebellar Atrophy 71
Ataxia, Spinocerebellar 69
Machado Disease 55

Characteristics:

Orphanet epidemiological data:

55
spinocerebellar ataxia type 3
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Worldwide),1-9/100000 (Portugal),1-9/100000 (Japan); Age of onset: Adolescent,Adult,Childhood; Age of death: adult;

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
progressive disorder
onset in third to fourth decade
wide clinical variability
normal alleles contain up to 44 repeats
pathogenic alleles contain 52 to 86 repeats
incomplete penetrance with 45 to 51 repeats
genetic anticipation


HPO:

31
machado-joseph disease:
Inheritance genetic anticipation autosomal dominant inheritance
Onset and clinical course progressive


GeneReviews:

23
Penetrance A zone of cag trinucleotide repeat lengths that displays reduced penetrance is less firmly established in individuals with sca3 than in several other sca disorders caused by trinucleotide expansion. however, rare intermediate-length alleles of 45 to approximately 60 cag repeats may show reduced penetrance...

Classifications:

Orphanet: 55  
Rare neurological diseases


Summaries for Machado-Joseph Disease

NIH Rare Diseases : 49 Spinocerebellar ataxia 3 (SCA3) is a rare, inherited form of ataxia. Signs and symptoms may begin between childhood and late adulthood and vary greatly. Symptoms may include slowly progressive clumsiness in the arms and legs; a manner of walking (gait) that may be mistaken for drunkenness; difficulty speaking and swallowing; impaired eye movements or vision; and lower limb spasticity. Some people with SCA3 develop dystonia or symptoms similar to those of Parkinson’s disease; twitching of the face or tongue; nerve damage (neuropathy); or problems with urination and the autonomic nervous system. SCA3 is caused by a mutation in the ATXN3 gene and inheritance is autosomal dominant. There is no medication that slows the progressive course of the disease; management aims to relieve some symptoms and improve quality of life. Life expectancy ranges from the mid-30s for those with the most severe forms, to a nearly normal life expectancy for those with milder forms. Last updated: 8/31/2016

MalaCards based summary : Machado-Joseph Disease, also known as mjd, is related to olivopontocerebellar atrophy and spinocerebellar ataxia 2, and has symptoms including clumsiness, abnormality of extrapyramidal motor function and dystonia. An important gene associated with Machado-Joseph Disease is ATXN3 (Ataxin 3), and among its related pathways/superpathways are Protein processing in endoplasmic reticulum and Deubiquitination. The drugs Glutamic Acid and Antidepressive Agents have been mentioned in the context of this disorder. Affiliated tissues include eye, tongue and cerebellum, and related phenotypes are behavior/neurological and growth/size/body region

OMIM : 53 Machado-Joseph disease, named for affected families of Azorean extraction, is an autosomal dominant progressive neurologic disorder characterized principally by ataxia, spasticity, and ocular movement abnormalities. Although independently described as a seemingly separate disorder, spinocerebellar ataxia-3 is now known to be the same as Machado-Joseph disease. Three classic clinical subtypes of MJD are recognized: type 1 with early onset and marked pyramidal and dystonic signs; type 2, or pure, with predominant cerebellar ataxia; and type 3 with later-onset and peripheral neuropathy (Franca et al., 2008). (109150)

UniProtKB/Swiss-Prot : 71 Spinocerebellar ataxia 3: Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to cerebellum degeneration with variable involvement of the brainstem and spinal cord. SCA3 belongs to the autosomal dominant cerebellar ataxias type I (ADCA I) which are characterized by cerebellar ataxia in combination with additional clinical features like optic atrophy, ophthalmoplegia, bulbar and extrapyramidal signs, peripheral neuropathy and dementia. The molecular defect in SCA3 is the a CAG repeat expansion in ATX3 coding region. Longer expansions result in earlier onset and more severe clinical manifestations of the disease.

NINDS : 50 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.  Almost all individuals with MJD experience vision problems, including double vision or blurred vision, loss of the ability to distinguish color and/or contrast, and inability to control eye movements.

Genetics Home Reference : 24 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.

Disease Ontology : 12 An autosomal dominant cerebellar ataxia that is characterized by slow degeneration of the hindbrain and has material basis in expansion of CAG triplet repeats (glutamine) in the ATXN3 gene.

Wikipedia : 72 Machado–Joseph disease (MJD), also known as Machado–Joseph Azorean disease, Machado\'s disease,... more...

GeneReviews: NBK1196

Related Diseases for Machado-Joseph Disease

Diseases in the Machado-Joseph Disease family:

Machado-Joseph Disease Type 1 Machado-Joseph Disease Type 3
Machado-Joseph Disease Type 2

Diseases related to Machado-Joseph Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 82)
# Related Disease Score Top Affiliating Genes
1 olivopontocerebellar atrophy 32.3 ATXN2 ATXN7 SNCA
2 spinocerebellar ataxia 2 32.1 ATXN2 ATXN3 ATXN7 CACNA1A
3 spinocerebellar degeneration 31.5 ATXN1 ATXN2 ATXN3
4 spinocerebellar ataxia 1 31.1 ATN1 ATXN1 ATXN3 ATXN7 CACNA1A
5 rem sleep behavior disorder 30.2 RPS27A SLC6A3 SNCA
6 cerebellar degeneration 30.2 ATXN2 CACNA1A
7 multiple system atrophy 1 29.7 ATXN1 SLC6A3 SNCA
8 aceruloplasminemia 29.7 ATXN2 ATXN3 ATXN7 CACNA1A SNCA
9 restless legs syndrome 29.6 ATXN3 CACNA1A SLC6A3 SNCA
10 huntington disease 29.0 ATN1 ATXN1 ATXN3
11 dentatorubral-pallidoluysian atrophy 29.0 ATN1 ATXN1 ATXN2 ATXN3 ATXN7 CACNA1A
12 parkinson disease, late-onset 29.0 ATXN2 ATXN3 HTR1A RPS27A SLC6A3 SNCA
13 autosomal dominant cerebellar ataxia 28.9 ATN1 ATXN1 ATXN2 ATXN3 ATXN7 CACNA1A
14 hereditary ataxia 28.4 ATN1 ATXN1 ATXN2 ATXN3 ATXN7 CACNA1A
15 machado-joseph disease type 1 12.3
16 machado-joseph disease type 3 12.3
17 machado-joseph disease type 2 12.3
18 spinocerebellar ataxia, x-linked 3 11.7
19 spinocerebellar atrophy 11.6
20 ataxias and cerebellar or spinocerebellar degeneration 11.2
21 spinocerebellar ataxia, autosomal recessive 3 11.2
22 majeed syndrome 11.1
23 brachydactylous dwarfism mseleni type 10.9
24 ataxia and polyneuropathy, adult-onset 10.9
25 aging 10.6
26 neuronitis 10.5
27 spasticity 10.4
28 ataxia-oculomotor apraxia 3 10.4
29 dystonia 10.4
30 neuropathy 10.4
31 autonomic dysfunction 10.3
32 episodic pain syndrome, familial, 1 10.3
33 sleep disorder 10.3
34 premature ejaculation 10.3 HTR1A SLC6A3
35 anxiety 10.2
36 hereditary spastic paraplegia 10.2
37 dementia 10.2
38 polyneuropathy 10.2
39 cerebritis 10.2
40 paraplegia 10.2
41 muscular atrophy 10.2
42 dysphagia 10.2
43 myoclonus 10.2
44 spinocerebellar ataxia 18 10.1 ATXN3 ATXN7 CACNA1A
45 spinocerebellar ataxia 7 10.1 ATXN2 ATXN7
46 spinocerebellar ataxia 6 10.1 ATXN3 ATXN7 CACNA1A
47 spinocerebellar ataxia 31 10.1 ATXN3 ATXN7 CACNA1A
48 cerebellar disease 10.1 ATXN3 ATXN7 CACNA1A
49 striatonigral degeneration 10.0 SLC6A3 SNCA
50 leukoencephalopathy, hereditary diffuse, with spheroids 10.0 RPS27A SNCA

Graphical network of the top 20 diseases related to Machado-Joseph Disease:



Diseases related to Machado-Joseph Disease

Symptoms & Phenotypes for Machado-Joseph Disease

Symptoms via clinical synopsis from OMIM:

53
NeurologicCentralNervousSystem:
chronic pain
bradykinesia
spasticity
dysarthria
limb ataxia
more
AbdomenGastrointestinal:
dysphagia

MuscleSoftTissue:
muscle cramps
fasciculations

HeadAndNeckEyes:
diplopia
external ophthalmoplegia
supranuclear ophthalmoplegia
gaze-evoked nystagmus
dysmetric saccades
more
NeurologicPeripheralNervousSystem:
peripheral neuropathy
decreased vibration sense
impaired thermal sense
decreased or absent ankle reflexes
distal muscular atrophy

GenitourinaryBladder:
sphincter disturbances


Clinical features from OMIM:

109150

Human phenotypes related to Machado-Joseph Disease:

55 31 (show all 47)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 clumsiness 55 31 hallmark (90%) Very frequent (99-80%) HP:0002312
2 abnormality of extrapyramidal motor function 55 31 hallmark (90%) Very frequent (99-80%) HP:0002071
3 dystonia 55 31 very rare (1%) Very frequent (99-80%) HP:0001332
4 abnormal pyramidal signs 55 31 hallmark (90%) Very frequent (99-80%) HP:0007256
5 nystagmus 55 31 hallmark (90%) Very frequent (99-80%) HP:0000639
6 diplopia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000651
7 dysarthria 55 31 very rare (1%) Very frequent (99-80%) HP:0001260
8 hyperreflexia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001347
9 delayed speech and language development 55 31 hallmark (90%) Very frequent (99-80%) HP:0000750
10 skeletal muscle atrophy 55 31 hallmark (90%) Very frequent (99-80%) HP:0003202
11 abnormality of temperature regulation 55 31 occasional (7.5%) Occasional (29-5%) HP:0004370
12 progressive external ophthalmoplegia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000590
13 proptosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000520
14 vocal cord paralysis 55 31 occasional (7.5%) Occasional (29-5%) HP:0001605
15 vestibular dysfunction 55 31 occasional (7.5%) Occasional (29-5%) HP:0001751
16 progressive cerebellar ataxia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002073
17 ataxia 31 very rare (1%) HP:0001251
18 chronic pain 31 HP:0012532
19 bradykinesia 31 HP:0002067
20 ptosis 31 HP:0000508
21 spasticity 31 very rare (1%) HP:0001257
22 dysphagia 31 HP:0002015
23 dysautonomia 31 occasional (7.5%) HP:0002459
24 limb ataxia 31 HP:0002070
25 babinski sign 31 HP:0003487
26 urinary bladder sphincter dysfunction 31 HP:0002839
27 rigidity 31 HP:0002063
28 muscle cramps 31 HP:0003394
29 dementia 31 HP:0000726
30 fasciculations 31 very rare (1%) HP:0002380
31 cerebellar atrophy 31 HP:0001272
32 external ophthalmoplegia 31 very rare (1%) HP:0000544
33 parkinsonism 31 very rare (1%) HP:0001300
34 supranuclear ophthalmoplegia 31 HP:0000623
35 postural instability 31 HP:0002172
36 gliosis 31 HP:0002171
37 distal amyotrophy 31 HP:0003693
38 spinocerebellar tract degeneration 31 HP:0002503
39 truncal ataxia 31 HP:0002078
40 absent achilles reflex 31 HP:0003438
41 impaired vibratory sensation 31 HP:0002495
42 gaze-evoked nystagmus 31 very rare (1%) HP:0000640
43 dysmetric saccades 31 HP:0000641
44 impaired horizontal smooth pursuit 31 HP:0001151
45 facial-lingual fasciculations 31 HP:0007089
46 dilated fourth ventricle 31 HP:0002198
47 abnormal electrooculogram 31 HP:0030454

UMLS symptoms related to Machado-Joseph Disease:


cerebellar ataxia, ataxia, ataxia, truncal, abnormality of extrapyramidal motor function, abnormal pyramidal signs, bradykinesia, chronic pain, muscle spasticity, muscle rigidity, muscle cramp, muscular fasciculation

MGI Mouse Phenotypes related to Machado-Joseph Disease:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.02 ATN1 ATXN1 ATXN2 ATXN3 ATXN7 CACNA1A
2 growth/size/body region MP:0005378 9.91 ATN1 ATXN1 ATXN2 ATXN7 CACNA1A HSPB1
3 homeostasis/metabolism MP:0005376 9.81 ATN1 ATXN1 ATXN2 ATXN3 CACNA1A HSPB1
4 mortality/aging MP:0010768 9.61 ATN1 ATXN1 ATXN2 ATXN7 CACNA1A HTR1A
5 nervous system MP:0003631 9.32 ATN1 ATXN1 ATXN2 ATXN3 ATXN7 CACNA1A

Drugs & Therapeutics for Machado-Joseph Disease

Drugs for Machado-Joseph Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 17)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Glutamic Acid Approved, Nutraceutical Phase 3 56-86-0 33032
2 Antidepressive Agents Phase 2, Phase 3
3 Antimanic Agents Phase 2, Phase 3
4 Central Nervous System Depressants Phase 2, Phase 3
5 Lithium carbonate Phase 2, Phase 3 554-13-2
6 Psychotropic Drugs Phase 2, Phase 3
7 Tranquilizing Agents Phase 2, Phase 3
8
Menthol Approved Phase 2 2216-51-5 16666
9
Varenicline Approved, Investigational Phase 2 249296-44-4 5310966
10 Cholinergic Agents Phase 2
11 Neurotransmitter Agents Phase 2
12 Nicotinic Agonists Phase 2
13
Dopamine Approved 51-61-6, 62-31-7 681
14
4-Aminopyridine Approved 504-24-5 1727
15 Dopamine Agents
16 Dopamine agonists
17 Potassium Channel Blockers

Interventional clinical trials:

(show all 21)

# Name Status NCT ID Phase Drugs
1 Safety and Efficacy of Lithium Carbonate in Patients With Spinocerebellar Ataxia Type 3 Completed NCT01096082 Phase 2, Phase 3 Lithium Carbonate;Placebo
2 An Open Pilot Trial of BHV-4157 Active, not recruiting NCT03408080 Phase 3 BHV-4157
3 Trial in Adult Subjects With Spinocerebellar Ataxia Active, not recruiting NCT02960893 Phase 2, Phase 3 BHV-4157;Placebo Comparator
4 The Influence of Deep TMS on Cerebellar Signs in Patients With Machado Joseph Disease Completed NCT02039206 Phase 2
5 Study To Assess Safety, Tolerability and Efficacy of Intravenous Cabaletta in Patients With Machado-Joseph Disease Completed NCT02147886 Phase 2 Cabaletta for IV infusion once weekly during 24 weeks;Cabaletta for IV infusion once weekly during 24 weeks
6 Study to Determine the Safety and Tolerability of Varenicline (Chantix®) in Treating Spinocerebellar Ataxia Type 3 Completed NCT00992771 Phase 2 varenicline;placebo
7 Umbilical Cord Mesenchymal Stem Cells Therapy for Patients With Spinocerebellar Ataxia Not yet recruiting NCT03378414 Phase 2
8 Pilot Study of Safety and Efficacy of Sodium Phenylbutyrate in Spinocerebellar Ataxia Type 3 Withdrawn NCT01096095 Phase 2 Placebo;Sodium Phenylbutyrate
9 RISCA : Prospective Study of Individuals at Risk for SCA1, SCA2, SCA3, SCA6, SCA7 Unknown status NCT01037777
10 Weight in Lower Limbs Improves Gait Ataxia of in Machado-Joseph Disease Patients Completed NCT02906046
11 Parkinsonism in Spinocerebellar Ataxia Type 6 Completed NCT01934998
12 Dalfampridine and Gait in Spinocerebellar Ataxias Completed NCT01811706 Dalfampridine;Placebo
13 Biomarkers in Autosomal Dominant Cerebellar Ataxia Completed NCT01470729
14 Measuring Neurological Impairment and Functional Visual Assessment In Spinocerebellar Ataxias Completed NCT00654251
15 Machado-Joseph Disease in Israel Recruiting NCT02175290
16 Natural History Study of and Genetic Modifiers in Spinocerebellar Ataxias Recruiting NCT01060371
17 The EUROSCA Natural History Study Recruiting NCT02440763
18 Hong Kong Spinocerebellar Ataxias Registry Recruiting NCT03336008
19 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
20 Development of iPS From Donated Somatic Cells of Patients With Neurological Diseases Recruiting NCT00874783
21 Rehabilitative Trial With Cerebello-Spinal tDCS in Neurodegenerative Ataxia Active, not recruiting NCT03120013

Search NIH Clinical Center for Machado-Joseph Disease

Cochrane evidence based reviews: machado-joseph disease

Genetic Tests for Machado-Joseph Disease

Genetic tests related to Machado-Joseph Disease:

# Genetic test Affiliating Genes
1 Azorean Disease 28 ATXN3

Anatomical Context for Machado-Joseph Disease

MalaCards organs/tissues related to Machado-Joseph Disease:

38
Eye, Tongue, Cerebellum, Spinal Cord, Brain, Testes, Skeletal Muscle

Publications for Machado-Joseph Disease

Articles related to Machado-Joseph Disease:

(show top 50) (show all 378)
# Title Authors Year
1
Polyglutamine-Independent Features in Ataxin-3 Aggregation and Pathogenesis of Machado-Joseph Disease. ( 29427109 )
2018
2
Animal Models of Machado-Joseph Disease. ( 29427110 )
2018
3
Origins and Spread of Machado-Joseph Disease Ancestral Mutations Events. ( 29427107 )
2018
4
Planning Future Clinical Trials for Machado-Joseph Disease. ( 29427112 )
2018
5
Pharmacological Therapies for Machado-Joseph Disease. ( 29427114 )
2018
6
Towards the Identification of Molecular Biomarkers of Spinocerebellar Ataxia Type 3 (SCA3)/Machado-Joseph Disease (MJD). ( 29427111 )
2018
7
Molecular Mechanisms and Cellular Pathways Implicated in Machado-Joseph Disease Pathogenesis. ( 29427113 )
2018
8
Clinical Features of Machado-Joseph Disease. ( 29427108 )
2018
9
Promoter Variant Alters Expression of the Autophagic BECN1 Gene: Implications for Clinical Manifestations of Machado-Joseph Disease. ( 28699106 )
2017
10
Cancer in Machado-Joseph disease patients-low frequency as a cause of death. ( 28449807 )
2017
11
Ubiquitin-related network underlain by (CAG)n loci modulate age at onset in Machado-Joseph disease. ( 28334945 )
2017
12
Unravelling Endogenous MicroRNA System Dysfunction as a New Pathophysiological Mechanism in Machado-Joseph Disease. ( 28236575 )
2017
13
Paula Coutinho's outstanding contribution to the definition of Machado-Joseph disease. ( 29166467 )
2017
14
Calpain Inhibition Is Protective in Machado-Joseph Disease Zebrafish Due to Induction of Autophagy. ( 28687604 )
2017
15
A combinatorial approach to identify calpain cleavage sites in the Machado-Joseph disease protein ataxin-3. ( 28334907 )
2017
16
Deregulation of autophagy in postmortem brains of Machado-Joseph disease patients. ( 29218765 )
2017
17
ATXN2 polymorphism modulates age at onset in Machado-Joseph disease. ( 27452601 )
2016
18
Ophthalmological Features of Machado-Joseph Disease. ( 28666509 )
2016
19
The Machado-Joseph Disease Deubiquitinase Ataxin-3 Regulates the Stability and Apoptotic Function of p53. ( 27851749 )
2016
20
Sleep disorders in Machado-Joseph disease. ( 27584711 )
2016
21
Lithium carbonate and coenzyme Q10 reduce cell death in a cell model of Machado-Joseph disease. ( 27878228 )
2016
22
Mid- and long-term anxiety levels associated with presymptomatic testing of Huntington's disease, Machado-Joseph disease, and familial amyloid polyneuropathy. ( 26870910 )
2016
23
Combined therapy with m-TOR-dependent and -independent autophagy inducers causes neurotoxicity in a mouse model of Machado-Joseph disease. ( 26601773 )
2016
24
Anterior horn degeneration in Machado-Joseph disease. ( 27538651 )
2016
25
Intravenous administration of brain-targeted stable nucleic acid lipid particles alleviates Machado-Joseph disease neurological phenotype. ( 26757259 )
2016
26
Fibroblasts of Machado Joseph Disease patients reveal autophagy impairment. ( 27328712 )
2016
27
(CAG)n loci as genetic modifiers of age-at-onset in patients with Machado-Joseph disease from mainland China. ( 27085188 )
2016
28
Caloric restriction blocks neuropathology and motor deficits in Machado-Joseph disease mouse models through SIRT1 pathway. ( 27165717 )
2016
29
Chinese homozygous Machado-Joseph disease (MJD)/SCA3: a case report. ( 25566755 )
2015
30
NREM-related parasomnias in Machado-Joseph disease: clinical and polysomnographic evaluation. ( 26359123 )
2015
31
Re-establishing ataxin-2 downregulates translation of mutant ataxin-3 and alleviates Machado-Joseph disease. ( 26490332 )
2015
32
Cervical and ocular vestibular evoked potentials in Machado-Joseph disease: Functional involvement of otolith pathways. ( 26365285 )
2015
33
Psychosis in Machado-Joseph Disease: Clinical Correlates, Pathophysiological Discussion, and Functional Brain Imaging. Expanding the Cerebellar Cognitive Affective Syndrome. ( 26298474 )
2015
34
Transplantation of cerebellar neural stem cells improves motor coordination and neuropathology in Machado-Joseph disease mice. ( 25527827 )
2015
35
Planning future clinical trials in Machado Joseph disease: Lessons from a phase 2 trial. ( 26297649 )
2015
36
Dystonia in Machado-Joseph disease: Clinical profile, therapy and anatomical basis. ( 26552869 )
2015
37
Serotonergic signalling suppresses ataxin 3 aggregation and neurotoxicity in animal models of Machado-Joseph disease. ( 26373603 )
2015
38
Neuropeptide Y mitigates neuropathology and motor deficits in mouse models of Machado-Joseph disease. ( 26220979 )
2015
39
Limited Effect of Chronic Valproic Acid Treatment in a Mouse Model of Machado-Joseph Disease. ( 26505994 )
2015
40
Cytokines in Machado Joseph Disease/Spinocerebellar Ataxia 3. ( 26395908 )
2015
41
Excessive neural synchrony in Machado-Joseph disease responsive to subthalamic nucleus stimulation. ( 25689061 )
2015
42
Strabismus and Micro-Opsoclonus in Machado-Joseph Disease. ( 26306823 )
2015
43
Novel candidate blood-based transcriptional biomarkers of Machado-Joseph disease. ( 25914309 )
2015
44
Toward therapeutic targets for SCA3: Insight into the role of Machado-Joseph disease protein ataxin-3 in misfolded proteins clearance. ( 26123252 )
2015
45
Mitochondrial NADH Dehydrogenase Subunit 3 Polymorphism Associated with an Earlier Age at Onset in Male Machado-Joseph disease Patients. ( 26336829 )
2015
46
RNA interference mitigates motor and neuropathological deficits in a cerebellar mouse model of Machado-Joseph disease. ( 25144231 )
2014
47
Spinal Cord Damage in Machado-Joseph Disease. ( 25370748 )
2014
48
Nystagmus as an early ocular alteration in Machado-Joseph disease (MJD/SCA3). ( 24450306 )
2014
49
Valproic acid attenuates the suppression of acetyl histone H3 and CREB activity in an inducible cell model of Machado-Joseph disease. ( 25068645 )
2014
50
Lithium chloride therapy fails to improve motor function in a transgenic mouse model of machado-joseph disease. ( 25112410 )
2014

Variations for Machado-Joseph Disease

ClinVar genetic disease variations for Machado-Joseph Disease:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ATXN3 NM_004993.5(ATXN3): c.892_894CAG(8_36) (p.Gln298_Gln305=) NT expansion Pathogenic,risk factor rs193922928 GRCh37 Chromosome 14, 92537355: 92537357
2 ATXN3 NM_004993.5(ATXN3) NT expansion Pathogenic GRCh37 Chromosome 14, 92537382: 92537384

Expression for Machado-Joseph Disease

Search GEO for disease gene expression data for Machado-Joseph Disease.

Pathways for Machado-Joseph Disease

Pathways related to Machado-Joseph Disease according to KEGG:

36
# Name Kegg Source Accession
1 Protein processing in endoplasmic reticulum hsa04141

GO Terms for Machado-Joseph Disease

Cellular components related to Machado-Joseph Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.9 ATN1 ATXN1 ATXN2 ATXN3 ATXN7 CACNA1A
2 nuclear inclusion body GO:0042405 8.96 ATXN1 ATXN3
3 nuclear matrix GO:0016363 8.92 ATN1 ATXN1 ATXN3 ATXN7

Biological processes related to Machado-Joseph Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 proteasome-mediated ubiquitin-dependent protein catabolic process GO:0043161 9.58 ATXN3 RPS27A VCP
2 response to cocaine GO:0042220 9.43 SLC6A3 SNCA
3 translesion synthesis GO:0019985 9.37 RPS27A VCP
4 error-free translesion synthesis GO:0070987 9.32 RPS27A VCP
5 dopamine biosynthetic process GO:0042416 9.26 SLC6A3 SNCA
6 regulation of dopamine metabolic process GO:0042053 9.16 HTR1A SLC6A3
7 protein deubiquitination GO:0016579 9.02 ATXN3 ATXN3L ATXN7 RPS27A VCP
8 dopamine uptake involved in synaptic transmission GO:0051583 8.96 SLC6A3 SNCA

Molecular functions related to Machado-Joseph Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.73 ATN1 ATXN1 ATXN2 ATXN3 ATXN7 CACNA1A
2 identical protein binding GO:0042802 9.55 ATXN1 ATXN3 HSPB1 SNCA VCP
3 thiol-dependent ubiquitinyl hydrolase activity GO:0036459 8.8 ATXN3 ATXN3L ATXN7

Sources for Machado-Joseph Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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