SCA3
MCID: MCH002
MIFTS: 62

Machado-Joseph Disease (SCA3)

Categories: Genetic diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Machado-Joseph Disease

MalaCards integrated aliases for Machado-Joseph Disease:

Name: Machado-Joseph Disease 57 12 24 53 25 54 59 75 37 13 55 44 15 73
Mjd 57 12 24 53 25 59 75
Sca3 57 24 53 25 59 75
Spinocerebellar Ataxia Type 3 12 24 25 59
Spinocerebellar Ataxia 3 57 12 53 75
Azorean Disease 12 25 29 6
Nigrospinodentatal Degeneration 57 53 75
Azorean Neurologic Disease 57 53 75
Spinopontine Atrophy 57 53 73
Azorean Ataxia 24 25
Nigro-Spino-Dentatal Degeneration with Nuclear Ophthalmoplegia 59
Azorean Disease of the Nervous System 59
Spinocerebellar Ataxia 3; Sca3 57
Spinocerebellar Atrophy Type 3 53
Spinocerebellar Atrophy Iii 57
Disease, Machado-Joseph ) 40
Spinocerebellar Atrophy 75
Ataxia, Spinocerebellar 73
Machado Disease 59

Characteristics:

Orphanet epidemiological data:

59
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:

57
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:

32
machado-joseph disease:
Inheritance genetic anticipation autosomal dominant inheritance
Onset and clinical course progressive


GeneReviews:

24
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: 59  
Rare neurological diseases


Summaries for Machado-Joseph Disease

NIH Rare Diseases : 53 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.

MalaCards based summary : Machado-Joseph Disease, also known as mjd, is related to olivopontocerebellar atrophy and spinocerebellar ataxia 2, and has symptoms including muscular fasciculation, muscle cramp and muscle rigidity. 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 Lithium carbonate have been mentioned in the context of this disorder. Affiliated tissues include eye, tongue and cerebellum, and related phenotypes are nystagmus and diplopia

OMIM : 57 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 : 75 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 : 54 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 : 25 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 : 76 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 88)
# Related Disease Score Top Affiliating Genes
1 olivopontocerebellar atrophy 32.2 ATXN2 ATXN7 SNCA
2 spinocerebellar ataxia 2 32.0 ATXN2 ATXN3 ATXN7 CACNA1A
3 spinocerebellar degeneration 31.8 ATXN1 ATXN2 ATXN3
4 cerebellar degeneration 30.4 ATXN2 CACNA1A
5 spinocerebellar ataxia 1 30.3 ATN1 ATXN1 ATXN3 ATXN7 CACNA1A
6 rem sleep behavior disorder 30.2 RPS27A SLC6A3 SNCA
7 dementia 29.4 SLC6A3 SNCA VCP
8 motor neuron disease 29.4 RPS27A SNCA VCP
9 dentatorubral-pallidoluysian atrophy 29.4 ATN1 ATXN2 ATXN3 ATXN7 CACNA1A
10 restless legs syndrome 29.3 ATXN3 CACNA1A SLC6A3 SNCA
11 multiple system atrophy 1 29.3 ATXN1 SLC6A3 SNCA
12 parkinson disease, late-onset 28.3 ATXN2 ATXN3 HTR1A RPS27A SLC6A3 SNCA
13 huntington disease 28.0 ATN1 ATXN1 ATXN3 SNCA
14 aceruloplasminemia 27.7 ATXN1 ATXN2 ATXN3 ATXN7 CACNA1A SNCA
15 autosomal dominant cerebellar ataxia 27.5 ATN1 ATXN1 ATXN2 ATXN3 ATXN7 CACNA1A
16 hereditary ataxia 27.3 ATN1 ATXN1 ATXN2 ATXN3 ATXN7 CACNA1A
17 machado-joseph disease type 1 12.3
18 machado-joseph disease type 3 12.3
19 machado-joseph disease type 2 12.3
20 spinocerebellar ataxia, x-linked 3 11.6
21 spinocerebellar atrophy 11.5
22 ataxias and cerebellar or spinocerebellar degeneration 11.2
23 spinocerebellar ataxia, autosomal recessive 3 11.2
24 majeed syndrome 11.1
25 brachydactylous dwarfism mseleni type 10.9
26 aging 10.5
27 premature ejaculation 10.5 HTR1A SLC6A3
28 neuronitis 10.4
29 spasticity 10.4
30 ataxia-oculomotor apraxia 3 10.4
31 dystonia 10.4
32 neuropathy 10.4
33 autonomic dysfunction 10.3
34 sleep disorder 10.3
35 depression 10.3
36 spinocerebellar ataxia 7 10.3 ATXN2 ATXN7
37 spinocerebellar ataxia 18 10.2 ATXN3 ATXN7 CACNA1A
38 spinocerebellar ataxia 6 10.2 ATXN3 ATXN7 CACNA1A
39 anxiety 10.2
40 hereditary spastic paraplegia 10.2
41 polyneuropathy 10.2
42 cerebritis 10.2
43 movement disease 10.2
44 peripheral nervous system disease 10.2
45 paraplegia 10.2
46 muscular atrophy 10.2
47 type i 10.2
48 dysphagia 10.2
49 myoclonus 10.2
50 spinocerebellar ataxia 31 10.1 ATXN3 ATXN7 CACNA1A

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:

57
Head And Neck Eyes:
diplopia
external ophthalmoplegia
supranuclear ophthalmoplegia
gaze-evoked nystagmus
dysmetric saccades
more
Abdomen Gastrointestinal:
dysphagia

Muscle Soft Tissue:
muscle cramps
fasciculations

Neurologic Central Nervous System:
spasticity
dysarthria
limb ataxia
rigidity
truncal ataxia
more
Neurologic Peripheral Nervous System:
peripheral neuropathy
decreased vibration sense
impaired thermal sense
decreased or absent ankle reflexes
distal muscular atrophy

Genitourinary Bladder:
sphincter disturbances


Clinical features from OMIM:

109150

Human phenotypes related to Machado-Joseph Disease:

59 32 (show all 47)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000639
2 diplopia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000651
3 dysarthria 59 32 very rare (1%) Very frequent (99-80%) HP:0001260
4 hyperreflexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001347
5 abnormal pyramidal signs 59 32 hallmark (90%) Very frequent (99-80%) HP:0007256
6 delayed speech and language development 59 32 hallmark (90%) Very frequent (99-80%) HP:0000750
7 skeletal muscle atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0003202
8 dystonia 59 32 very rare (1%) Very frequent (99-80%) HP:0001332
9 abnormality of temperature regulation 59 32 occasional (7.5%) Occasional (29-5%) HP:0004370
10 progressive external ophthalmoplegia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000590
11 clumsiness 59 32 hallmark (90%) Very frequent (99-80%) HP:0002312
12 abnormality of extrapyramidal motor function 59 32 hallmark (90%) Very frequent (99-80%) HP:0002071
13 progressive cerebellar ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002073
14 proptosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000520
15 vocal cord paralysis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001605
16 vestibular dysfunction 59 32 occasional (7.5%) Occasional (29-5%) HP:0001751
17 ptosis 32 HP:0000508
18 ataxia 32 very rare (1%) HP:0001251
19 spasticity 32 very rare (1%) HP:0001257
20 dysphagia 32 HP:0002015
21 dysautonomia 32 occasional (7.5%) HP:0002459
22 limb ataxia 32 HP:0002070
23 babinski sign 32 HP:0003487
24 urinary bladder sphincter dysfunction 32 HP:0002839
25 rigidity 32 HP:0002063
26 muscle cramps 32 HP:0003394
27 dementia 32 HP:0000726
28 fasciculations 32 very rare (1%) HP:0002380
29 truncal ataxia 32 HP:0002078
30 cerebellar atrophy 32 HP:0001272
31 bradykinesia 32 HP:0002067
32 external ophthalmoplegia 32 very rare (1%) HP:0000544
33 parkinsonism 32 very rare (1%) HP:0001300
34 impaired vibratory sensation 32 HP:0002495
35 absent achilles reflex 32 HP:0003438
36 distal amyotrophy 32 HP:0003693
37 postural instability 32 HP:0002172
38 supranuclear ophthalmoplegia 32 HP:0000623
39 gliosis 32 HP:0002171
40 spinocerebellar tract degeneration 32 HP:0002503
41 gaze-evoked nystagmus 32 very rare (1%) HP:0000640
42 dilated fourth ventricle 32 HP:0002198
43 dysmetric saccades 32 HP:0000641
44 chronic pain 32 HP:0012532
45 impaired horizontal smooth pursuit 32 HP:0001151
46 facial-lingual fasciculations 32 HP:0007089
47 abnormal electrooculogram 32 HP:0030454

UMLS symptoms related to Machado-Joseph Disease:


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

MGI Mouse Phenotypes related to Machado-Joseph Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.02 ATN1 HTR1A SLC6A3 ATXN1 SNCA ATXN2
2 growth/size/body region MP:0005378 9.91 CACNA1A HSPB1 ATN1 SLC6A3 ATXN1 SNCA
3 homeostasis/metabolism MP:0005376 9.81 CACNA1A HSPB1 HTR1A ATN1 SLC6A3 ATXN1
4 mortality/aging MP:0010768 9.61 CACNA1A HTR1A ATN1 SLC6A3 ATXN1 SNCA
5 nervous system MP:0003631 9.32 CACNA1A ATN1 HTR1A SLC6A3 ATXN1 SNCA

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 Lithium carbonate Phase 2, Phase 3 554-13-2
3 Central Nervous System Depressants Phase 2, Phase 3
4 Tranquilizing Agents Phase 2, Phase 3
5 Antidepressive Agents Phase 2, Phase 3
6 Psychotropic Drugs Phase 2, Phase 3
7 Antimanic 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 Not Applicable 504-24-5 1727
15 Dopamine agonists
16 Dopamine Agents
17 Potassium Channel Blockers Not Applicable

Interventional clinical trials:

(show all 23)
# 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 Machado-Joseph Disease in Israel Unknown status NCT02175290
10 RISCA : Prospective Study of Individuals at Risk for SCA1, SCA2, SCA3, SCA6, SCA7 Unknown status NCT01037777
11 Weight in Lower Limbs Improves Gait Ataxia of in Machado-Joseph Disease Patients Completed NCT02906046 Not Applicable
12 Parkinsonism in Spinocerebellar Ataxia Type 6 Completed NCT01934998
13 Dalfampridine and Gait in Spinocerebellar Ataxias Completed NCT01811706 Not Applicable Dalfampridine;Placebo
14 Biomarkers in Autosomal Dominant Cerebellar Ataxia Completed NCT01470729
15 Measuring Neurological Impairment and Functional Visual Assessment In Spinocerebellar Ataxias Completed NCT00654251
16 Natural History Study of and Genetic Modifiers in Spinocerebellar Ataxias Recruiting NCT01060371
17 The EUROSCA Natural History Study Recruiting NCT02440763
18 NIPD on CFTC for Triplet Repeat Diseases Recruiting NCT03087526 Not Applicable
19 Hong Kong Spinocerebellar Ataxias Registry Recruiting NCT03336008
20 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
21 Development of iPS From Donated Somatic Cells of Patients With Neurological Diseases Recruiting NCT00874783
22 Rehabilitative Trial With Cerebello-Spinal tDCS in Neurodegenerative Ataxia Active, not recruiting NCT03120013 Not Applicable
23 Clinical Trial Readiness for SCA1 and SCA3 Not yet recruiting NCT03487367

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 29 ATXN3

Anatomical Context for Machado-Joseph Disease

MalaCards organs/tissues related to Machado-Joseph Disease:

41
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 383)
# Title Authors Year
1
Sleep apnea in Machado-Joseph disease: a clinical and polysomnographic evaluation. ( 29852360 )
2018
2
Molecular Mechanisms and Cellular Pathways Implicated in Machado-Joseph Disease Pathogenesis. ( 29427113 )
2018
3
Planning Future Clinical Trials for Machado-Joseph Disease. ( 29427112 )
2018
4
Animal Models of Machado-Joseph Disease. ( 29427110 )
2018
5
Pharmacological Therapies for Machado-Joseph Disease. ( 29427114 )
2018
6
Accumulation of Mitochondrial DNA Common Deletion Since The Preataxic Stage of Machado-Joseph Disease. ( 29679261 )
2018
7
Clinical Features of Machado-Joseph Disease. ( 29427108 )
2018
8
Origins and Spread of Machado-Joseph Disease Ancestral Mutations Events. ( 29427107 )
2018
9
Polyglutamine-Independent Features in Ataxin-3 Aggregation and Pathogenesis of Machado-Joseph Disease. ( 29427109 )
2018
10
Towards the Identification of Molecular Biomarkers of Spinocerebellar Ataxia Type 3 (SCA3)/Machado-Joseph Disease (MJD). ( 29427111 )
2018
11
Machado-Joseph disease / Spinocerebellar ataxia type 3:lessons from disease pathogenesis and clues into therapy. ( 29959858 )
2018
12
Deregulation of autophagy in postmortem brains of Machado-Joseph disease patients. ( 29218765 )
2017
13
Promoter Variant Alters Expression of the Autophagic BECN1 Gene: Implications for Clinical Manifestations of Machado-Joseph Disease. ( 28699106 )
2017
14
Calpain Inhibition Is Protective in Machado-Joseph Disease Zebrafish Due to Induction of Autophagy. ( 28687604 )
2017
15
Paula Coutinho's outstanding contribution to the definition of Machado-Joseph disease. ( 29166467 )
2017
16
Cancer in Machado-Joseph disease patients-low frequency as a cause of death. ( 28449807 )
2017
17
Unravelling Endogenous MicroRNA System Dysfunction as a New Pathophysiological Mechanism in Machado-Joseph Disease. ( 28236575 )
2017
18
A combinatorial approach to identify calpain cleavage sites in the Machado-Joseph disease protein ataxin-3. ( 28334907 )
2017
19
Ubiquitin-related network underlain by (CAG)n loci modulate age at onset in Machado-Joseph disease. ( 28334945 )
2017
20
Mid- and long-term anxiety levels associated with presymptomatic testing of Huntington's disease, Machado-Joseph disease, and familial amyloid polyneuropathy. ( 26870910 )
2016
21
Ophthalmological Features of Machado-Joseph Disease. ( 28666509 )
2016
22
The Machado-Joseph Disease Deubiquitinase Ataxin-3 Regulates the Stability and Apoptotic Function of p53. ( 27851749 )
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
Fibroblasts of Machado Joseph Disease patients reveal autophagy impairment. ( 27328712 )
2016
25
ATXN2 polymorphism modulates age at onset in Machado-Joseph disease. ( 27452601 )
2016
26
(CAG)n loci as genetic modifiers of age-at-onset in patients with Machado-Joseph disease from mainland China. ( 27085188 )
2016
27
Anterior horn degeneration in Machado-Joseph disease. ( 27538651 )
2016
28
Lithium carbonate and coenzyme Q10 reduce cell death in a cell model of Machado-Joseph disease. ( 27878228 )
2016
29
Sleep disorders in Machado-Joseph disease. ( 27584711 )
2016
30
Caloric restriction blocks neuropathology and motor deficits in Machado-Joseph disease mouse models through SIRT1 pathway. ( 27165717 )
2016
31
Intravenous administration of brain-targeted stable nucleic acid lipid particles alleviates Machado-Joseph disease neurological phenotype. ( 26757259 )
2016
32
Novel candidate blood-based transcriptional biomarkers of Machado-Joseph disease. ( 25914309 )
2015
33
Cytokines in Machado Joseph Disease/Spinocerebellar Ataxia 3. ( 26395908 )
2015
34
Transplantation of cerebellar neural stem cells improves motor coordination and neuropathology in Machado-Joseph disease mice. ( 25527827 )
2015
35
Limited Effect of Chronic Valproic Acid Treatment in a Mouse Model of Machado-Joseph Disease. ( 26505994 )
2015
36
Strabismus and Micro-Opsoclonus in Machado-Joseph Disease. ( 26306823 )
2015
37
Excessive neural synchrony in Machado-Joseph disease responsive to subthalamic nucleus stimulation. ( 25689061 )
2015
38
Chinese homozygous Machado-Joseph disease (MJD)/SCA3: a case report. ( 25566755 )
2015
39
Psychosis in Machado-Joseph Disease: Clinical Correlates, Pathophysiological Discussion, and Functional Brain Imaging. Expanding the Cerebellar Cognitive Affective Syndrome. ( 26298474 )
2015
40
Toward therapeutic targets for SCA3: Insight into the role of Machado-Joseph disease protein ataxin-3 in misfolded proteins clearance. ( 26123252 )
2015
41
NREM-related parasomnias in Machado-Joseph disease: clinical and polysomnographic evaluation. ( 26359123 )
2015
42
Serotonergic signalling suppresses ataxin 3 aggregation and neurotoxicity in animal models of Machado-Joseph disease. ( 26373603 )
2015
43
Dystonia in Machado-Joseph disease: Clinical profile, therapy and anatomical basis. ( 26552869 )
2015
44
Planning future clinical trials in Machado Joseph disease: Lessons from a phase 2 trial. ( 26297649 )
2015
45
Re-establishing ataxin-2 downregulates translation of mutant ataxin-3 and alleviates Machado-Joseph disease. ( 26490332 )
2015
46
Mitochondrial NADH Dehydrogenase Subunit 3 Polymorphism Associated with an Earlier Age at Onset in Male Machado-Joseph disease Patients. ( 26336829 )
2015
47
Neuropeptide Y mitigates neuropathology and motor deficits in mouse models of Machado-Joseph disease. ( 26220979 )
2015
48
Cervical and ocular vestibular evoked potentials in Machado-Joseph disease: Functional involvement of otolith pathways. ( 26365285 )
2015
49
Genetic counseling and presymptomatic testing programs for Machado-Joseph Disease: lessons from Brazil and Portugal. ( 24764760 )
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): c.892_894CAG(8_36) (p.Gln298_Gln305=) NT expansion Pathogenic,risk factor rs193922928 GRCh38 Chromosome 14, 92071011: 92071013
3 ATXN3 NM_004993.5(ATXN3) NT expansion Benign GRCh37 Chromosome 14, 92537382: 92537384
4 ATXN3 NM_004993.5(ATXN3) NT expansion Benign GRCh38 Chromosome 14, 92071038: 92071040
5 ATXN3 NM_004993.5(ATXN3) NT expansion Pathogenic GRCh37 Chromosome 14, 92537382: 92537384
6 ATXN3 NM_004993.5(ATXN3) NT expansion Pathogenic GRCh38 Chromosome 14, 92071038: 92071040

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:

37
# 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 cytosol GO:0005829 9.91 ATXN1 ATXN2 ATXN3 ATXN3L ATXN7 HSPB1
2 cytoplasm GO:0005737 9.9 ATN1 ATXN1 ATXN2 ATXN3 ATXN7 CACNA1A
3 nuclear inclusion body GO:0042405 8.96 ATXN1 ATXN3
4 nuclear matrix GO:0016363 8.92 ATN1 ATXN1 ATXN3 ATXN7
5 nucleus GO:0005634 10.02 ATN1 ATXN1 ATXN3 ATXN3L ATXN7 CACNA1A

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 9.63 ATXN3 RPS27A VCP
2 chemical synaptic transmission GO:0007268 9.46 ATXN3 CACNA1A HTR1A SNCA
3 response to cocaine GO:0042220 9.43 SLC6A3 SNCA
4 translesion synthesis GO:0019985 9.4 RPS27A VCP
5 error-free translesion synthesis GO:0070987 9.37 RPS27A VCP
6 regulation of dopamine metabolic process GO:0042053 9.32 HTR1A SLC6A3
7 dopamine biosynthetic process GO:0042416 9.26 SLC6A3 SNCA
8 protein deubiquitination GO:0016579 9.02 ATXN3 ATXN3L ATXN7 RPS27A VCP
9 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 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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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