SCA3
MCID: MCH002
MIFTS: 63

Machado-Joseph Disease (SCA3) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Machado-Joseph Disease

Aliases & Descriptions for Machado-Joseph Disease:

Name: Machado-Joseph Disease 54 12 23 50 24 25 51 56 66 13 52 42 14 69
Mjd 12 23 50 24 25 56 66
Sca3 23 50 24 25 56 66
Spinocerebellar Ataxia Type 3 12 23 24 25 56
Spinocerebellar Ataxia 3 12 50 66
Azorean Disease 12 25 29
Azorean Ataxia 23 24 25
Nigrospinodentatal Degeneration 50 66
Azorean Neurologic Disease 50 66
Spinopontine Atrophy 50 69
Nigro-Spino-Dentatal Degeneration with Nuclear Ophthalmoplegia 56
Autosomal Dominant Striatonigral Degeneration 56
Azorean Disease of the Nervous System 56
Spinocerebellar Atrophy Type 3 50
Spinocerebellar Atrophy 66
Ataxia, Spinocerebellar 69
Machado Disease 56
Sca 3 24

Characteristics:

Orphanet epidemiological data:

56
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;

GeneReviews:

23
machado-joseph disease:
Inheritance autosomal dominant inheritance genetic anticipation
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: 56  
Rare neurological diseases


External Ids:

OMIM 54 109150
Disease Ontology 12 DOID:1440
NCIt 47 C84830
SNOMED-CT 64 91952008
Orphanet 56 ORPHA98757
ICD10 via Orphanet 34 G11.8
MedGen 40 C0024408
UMLS 69 C0024408

Summaries for Machado-Joseph Disease

NIH Rare Diseases : 50 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 machado-joseph disease type 1 and machado-joseph disease type 3, and has symptoms including ataxia, chronic pain and dystonia. An important gene associated with Machado-Joseph Disease is ATXN3 (Ataxin 3), and among its related pathways/superpathways are Deubiquitination and Chks in Checkpoint Regulation. The drugs Clonidine and Estradiol 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

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.

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.

OMIM : 54 Machado-Joseph disease, named for affected families of Azorean extraction, is an autosomal dominant progressive... (109150) more...

NINDS : 51 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.

UniProtKB/Swiss-Prot : 66 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.

Wikipedia : 71 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 83)
id Related Disease Score Top Affiliating Genes
1 machado-joseph disease type 1 12.2
2 machado-joseph disease type 3 12.2
3 machado-joseph disease type 2 12.2
4 spinocerebellar ataxia 2 11.5
5 olivopontocerebellar atrophy 11.5
6 spinocerebellar ataxia 1 11.2
7 spinocerebellar ataxia, x-linked 3 10.9
8 majeed syndrome 10.8
9 ataxia 10.8
10 neuronitis 10.4
11 spasticity 10.3
12 dystonia 10.3
13 neuropathy 10.3
14 cerebellar ataxia 10.3
15 autonomic dysfunction 10.2
16 sleep disorder 10.2
17 multiple system atrophy 10.2
18 striatonigral degeneration 10.1
19 anodontia 10.1 HTR1A SLC6A3
20 dysphagia 10.1
21 hereditary spastic paraplegia 10.1
22 myoclonus 10.1
23 paraplegia 10.1
24 muscular atrophy 10.1
25 dementia 10.1
26 polyneuropathy 10.1
27 rem sleep behavior disorder 10.1
28 cerebritis 10.1
29 spastic paraplegia 50, autosomal recessive 10.1 ATXN3 ATXN7 CACNA1A
30 lissencephaly 6, with microcephaly 10.1 ATXN3 ATXN7 CACNA1A
31 andersen syndrome 10.1 RPS27A VCP
32 deafness, autosomal recessive 101 10.0 RPS27A SNCA
33 severe congenital nemaline myopathy 10.0 RPS27A VCP
34 lower gum cancer 10.0 RPS27A SLC6A3 SNCA
35 hypocalcemia, autosomal dominant 2 10.0 ATXN3 ATXN7 CACNA1A SLC6A3
36 meier-gorlin syndrome 5 10.0 RPS27A SLC6A3 SNCA
37 coenzyme q10 deficiency, primary, 1 10.0 RPS27A SLC6A3 SNCA
38 charcot-marie-tooth disease, axonal, type 2l 10.0 ATXN2 ATXN3 ATXN7 CACNA1A
39 adams-oliver syndrome 4 10.0 ATXN2 ATXN7
40 gallbladder adenoma 10.0 RPS27A SLC6A3 SNCA
41 acute interstitial pneumonia 10.0 ATXN2 ATXN3 ATXN7 CACNA1A
42 personality disorder 9.9 HTR1A SLC6A3 SNCA
43 retinitis 9.9
44 chronic pain 9.9
45 dysautonomia 9.9
46 hereditary ataxia 9.9
47 strabismus 9.9
48 motor neuron disease 9.9
49 restless legs syndrome 9.9
50 spinocerebellar atrophy 9.9

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 by clinical synopsis from OMIM:

109150

Clinical features from OMIM:

109150

Human phenotypes related to Machado-Joseph Disease:

32 (show all 36)
id Description HPO Frequency HPO Source Accession
1 ataxia 32 HP:0001251
2 chronic pain 32 HP:0012532
3 dystonia 32 HP:0001332
4 bradykinesia 32 HP:0002067
5 ptosis 32 HP:0000508
6 diplopia 32 HP:0000651
7 spasticity 32 HP:0001257
8 dysarthria 32 HP:0001260
9 dysphagia 32 HP:0002015
10 dysautonomia 32 HP:0002459
11 limb ataxia 32 HP:0002070
12 babinski sign 32 HP:0003487
13 urinary bladder sphincter dysfunction 32 HP:0002839
14 rigidity 32 HP:0002063
15 muscle cramps 32 HP:0003394
16 dementia 32 HP:0000726
17 fasciculations 32 HP:0002380
18 proptosis 32 HP:0000520
19 cerebellar atrophy 32 HP:0001272
20 external ophthalmoplegia 32 HP:0000544
21 parkinsonism 32 HP:0001300
22 supranuclear ophthalmoplegia 32 HP:0000623
23 postural instability 32 HP:0002172
24 gliosis 32 HP:0002171
25 distal amyotrophy 32 HP:0003693
26 progressive cerebellar ataxia 32 HP:0002073
27 spinocerebellar tract degeneration 32 HP:0002503
28 truncal ataxia 32 HP:0002078
29 absent achilles reflex 32 HP:0003438
30 impaired vibratory sensation 32 HP:0002495
31 gaze-evoked nystagmus 32 HP:0000640
32 dysmetric saccades 32 HP:0000641
33 impaired horizontal smooth pursuit 32 HP:0001151
34 dilated fourth ventricle 32 HP:0002198
35 facial-lingual fasciculations 32 HP:0007089
36 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:

44
id 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 ATXN7 CACNA1A HSPB1 SLC6A3 SNCA VCP
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 top 50) (show all 141)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Clonidine Approved Phase 4 4205-90-7 2803
2
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757 53477783
3 Adrenergic Agents Phase 4
4 Adrenergic Agonists Phase 4
5 Adrenergic alpha-2 Receptor Agonists Phase 4
6 Adrenergic alpha-Agonists Phase 4
7 Analgesics Phase 4
8 Antihypertensive Agents Phase 4,Phase 2
9 Autonomic Agents Phase 4,Phase 3
10 Contraceptive Agents Phase 4
11 Estradiol 17 beta-cypionate Phase 4
12 Estradiol 3-benzoate Phase 4
13 Estradiol valerate Phase 4 979-32-8
14 Estrogens Phase 4
15 Hormone Antagonists Phase 4,Phase 3
16 Hormones Phase 4,Phase 3
17 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3
18 insulin Phase 4
19 Insulin, Globin Zinc Phase 4
20 Mitogens Phase 4
21 Neurotransmitter Agents Phase 4,Phase 2,Phase 3
22 Peripheral Nervous System Agents Phase 4,Phase 3
23 Polyestradiol phosphate Phase 4
24 Sympatholytics Phase 4
25 arginine Nutraceutical Phase 4
26
Riluzole Approved, Investigational Phase 2, Phase 3 1744-22-5 5070
27 Idebenone Approved, Investigational Phase 3,Phase 2,Phase 1 58186-27-9
28
Pioglitazone Approved, Investigational Phase 3 111025-46-8 4829
29
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
30
Varenicline Approved, Investigational Phase 2, Phase 3 249296-44-4 5310966
31 Heptavalent Pneumococcal Conjugate Vaccine Phase 3
32 Vaccines Phase 3
33 Antidepressive Agents Phase 2, Phase 3,Phase 1
34 Antimanic Agents Phase 2, Phase 3,Phase 1
35 Central Nervous System Depressants Phase 2, Phase 3,Phase 1
36 Lithium carbonate Phase 2, Phase 3,Phase 1 554-13-2
37 Psychotropic Drugs Phase 2, Phase 3,Phase 1
38 Tranquilizing Agents Phase 2, Phase 3,Phase 1
39 calcitonin Phase 3
40 Thyrotropin-Releasing Hormone Phase 3
41 Anticonvulsants Phase 2, Phase 3
42 Excitatory Amino Acid Antagonists Phase 2, Phase 3
43 Excitatory Amino Acids Phase 2, Phase 3
44 Neuroprotective Agents Phase 2, Phase 3
45 Protective Agents Phase 2, Phase 3, Phase 1
46 Antioxidants Phase 3,Phase 2,Phase 1
47 Micronutrients Phase 3,Phase 2,Phase 1
48 Trace Elements Phase 3,Phase 2,Phase 1
49 Ubiquinone Phase 3,Phase 2,Phase 1
50 Anti-Infective Agents Phase 3

Interventional clinical trials:

(show top 50) (show all 62)
id Name Status NCT ID Phase
1 Status of Growth Hormone/ Insulin-like Growth Factor-1 (GH/IGF-1) Axis and Growth Failure in Ataxia Telangiectasia (AT) Unknown status NCT01052623 Phase 4
2 Safety and Efficacy of Lithium Carbonate in Patients With Spinocerebellar Ataxia Type 3 Completed NCT01096082 Phase 2, Phase 3
3 A Long-Term Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) Completed NCT01970124 Phase 3
4 A 24-week Open-label Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) Completed NCT01970137 Phase 3
5 An Extension Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) Completed NCT01970111 Phase 3
6 A Confirmatory Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) Completed NCT01970098 Phase 3
7 Efficacy of Riluzole in Hereditary Cerebellar Ataxia Completed NCT01104649 Phase 2, Phase 3
8 Patient Reported Outcomes in Friedreich's Ataxia Patients After Withdrawal From Treatment With Idebenone (PROTI) Completed NCT01303406 Phase 3
9 Safety, Tolerability and Efficacy of ACTIMMUNE Dose Escalation in Friedreich's Ataxia Study Completed NCT02593773 Phase 3
10 Safety, Tolerability and Efficacy of ACTIMMUNE® Dose Escalation in Friedreich's Ataxia Completed NCT02415127 Phase 3
11 Study to Assess the Efficacy, Safety and Tolerability of Idebenone in the Treatment of Friedreich's Ataxia Completed NCT00537680 Phase 3
12 A Study of Efficacy, Safety and Tolerability of Idebenone in the Treatment of Friedreich's Ataxia (FRDA) Patients Completed NCT00905268 Phase 3
13 Conjugate Pneumococcal Vaccine in Ataxia Telangiectasia (AT) Completed NCT00656409 Phase 3
14 Study to Assess the Safety and Tolerability of Idebenone in the Treatment of Friedreich's Ataxia Patients Completed NCT00697073 Phase 3
15 Effect of Pioglitazone Administered to Patients With Friedreich's Ataxia: Proof of Concept Completed NCT00811681 Phase 3
16 Long-Term Safety and Tolerability of Idebenone in Friedreich's Ataxia Patients (MICONOS Extension) Completed NCT00993967 Phase 3
17 STEADFAST Long-Term Safety Extension Completed NCT02797080 Phase 3
18 Trial in Adult Subjects With Spinocerebellar Ataxia Recruiting NCT02960893 Phase 2, Phase 3
19 An Additional Confirmatory Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) Recruiting NCT02889302 Phase 3
20 EDS in Ataxia Telangiectasia Patients Recruiting NCT02770807 Phase 3
21 Pilot Study of Varenicline (Chantix®) in the Treatment of Friedreich's Ataxia Terminated NCT00803868 Phase 2, Phase 3
22 The Influence of Deep TMS on Cerebellar Signs in Patients With Machado Joseph Disease Unknown status NCT02039206 Phase 2
23 A New Method to Treat Hereditary Cerebellar Ataxia - Umbilical Cord Mesenchymal Stem Cells Transplantation Unknown status NCT01489267 Phase 2
24 Study To Assess Safety, Tolerability and Efficacy of Intravenous Cabaletta in Patients With Machado-Joseph Disease Completed NCT02147886 Phase 2
25 Study to Determine the Safety and Tolerability of Varenicline (Chantix®) in Treating Spinocerebellar Ataxia Type 3 Completed NCT00992771 Phase 2
26 High-Dose Intravenous Immunoglobulin to Treat Cerebellar Degeneration Completed NCT00034242 Phase 2
27 Idebenone to Treat Friedreich's Ataxia Completed NCT00229632 Phase 2
28 Efficacy of Epoetin Alfa in Patients With Friedreich's Ataxia Completed NCT00631202 Phase 2
29 Safety and Efficacy Study of A0001 in Subjects With Friedreich's Ataxia Completed NCT01035671 Phase 2
30 EPI-743 in Friedreich's Ataxia Point Mutations Completed NCT01962363 Phase 2
31 Safety Study of Carbamylated Erythropoietin to Treat Patients With the Neurodegenerative Disorder Friedreich's Ataxia Completed NCT01016366 Phase 2
32 Effect of Nicotinamide in Friedreich's Ataxia Active, not recruiting NCT01589809 Phase 2
33 Pilot Study of Safety and Efficacy of Sodium Phenylbutyrate in Spinocerebellar Ataxia Type 3 Withdrawn NCT01096095 Phase 2
34 Lithium Treatment for Patients With Spinocerebellar Ataxia Type I Completed NCT00683943 Phase 1
35 Safety and Pharmacology Study of VP 20629 in Adults With Friedreich's Ataxia Completed NCT01898884 Phase 1
36 Safety Study of Idebenone to Treat Friedreich's Ataxia Completed NCT00015808 Phase 1
37 Phase 1 Trial of Idebenone to Treat Patients With Friedreich's Ataxia Completed NCT00078481 Phase 1
38 An Open-label Trial of Intravenous Immune Globulin (IVIG)in Treating Spinocerebellar Ataxias Recruiting NCT02287064 Phase 1
39 RISCA : Prospective Study of Individuals at Risk for SCA1, SCA2, SCA3, SCA6, SCA7 Unknown status NCT01037777
40 The EUROSCA Natural History Study Unknown status NCT02440763
41 Susceptibility to Infections in Ataxia Telangiectasia Unknown status NCT02345135
42 Immunogenicity of Pneumococcal Vaccines in Ataxia-telangiectasia Patients Unknown status NCT01075438
43 Baclofen Treatment of Ataxia Telangiectasia Unknown status NCT00640003 Early Phase 1
44 Weight in Lower Limbs Improves Gait Ataxia of in Machado-Joseph Disease Patients Completed NCT02906046
45 Parkinsonism in Spinocerebellar Ataxia Type 6 Completed NCT01934998
46 Dalfampridine and Gait in Spinocerebellar Ataxias Completed NCT01811706
47 Measuring Neurological Impairment and Functional Visual Assessment In Spinocerebellar Ataxias Completed NCT00654251
48 Biomarkers in Autosomal Dominant Cerebellar Ataxia Completed NCT01470729
49 Transcranial Magnetic Stimulation in Spino-Cerebellar Ataxia Completed NCT01975909
50 The Effect of Whole Body Vibration Training on Neuromuscular Property in Individuals With Ataxia Completed NCT01983631

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:

id Genetic test Affiliating Genes
1 Azorean Disease 29
2 Spinocerebellar Ataxia Type 3 24 ATXN3

Anatomical Context for Machado-Joseph Disease

MalaCards organs/tissues related to Machado-Joseph Disease:

39
Eye, Tongue, Cerebellum, Spinal Cord, Brain, Testes, Globus Pallidus

Publications for Machado-Joseph Disease

Articles related to Machado-Joseph Disease:

(show top 50) (show all 365)
id Title Authors Year
1
Ubiquitin-related network underlain by (CAG)n loci modulate age at onset in Machado-Joseph disease. ( 28334945 )
2017
2
A combinatorial approach to identify calpain cleavage sites in the Machado-Joseph disease protein ataxin-3. ( 28334907 )
2017
3
Unravelling Endogenous MicroRNA System Dysfunction as a New Pathophysiological Mechanism in Machado-Joseph Disease. ( 28236575 )
2017
4
Cancer in Machado-Joseph disease patients-low frequency as a cause of death. ( 28449807 )
2017
5
Anterior horn degeneration in Machado-Joseph disease. ( 27538651 )
2016
6
Combined therapy with m-TOR-dependent and -independent autophagy inducers causes neurotoxicity in a mouse model of Machado-Joseph disease. ( 26601773 )
2016
7
ATXN2 polymorphism modulates age at onset in Machado-Joseph disease. ( 27452601 )
2016
8
The Machado-Joseph Disease Deubiquitinase Ataxin-3 Regulates the Stability and Apoptotic Function of p53. ( 27851749 )
2016
9
Sleep disorders in Machado-Joseph disease. ( 27584711 )
2016
10
(CAG)n loci as genetic modifiers of age-at-onset in patients with Machado-Joseph disease from mainland China. ( 27085188 )
2016
11
Lithium carbonate and coenzyme Q10 reduce cell death in a cell model of Machado-Joseph disease. ( 27878228 )
2016
12
Caloric restriction blocks neuropathology and motor deficits in Machado-Joseph disease mouse models through SIRT1 pathway. ( 27165717 )
2016
13
Mid- and long-term anxiety levels associated with presymptomatic testing of Huntington's disease, Machado-Joseph disease, and familial amyloid polyneuropathy. ( 26870910 )
2016
14
Fibroblasts of Machado Joseph Disease patients reveal autophagy impairment. ( 27328712 )
2016
15
Intravenous administration of brain-targeted stable nucleic acid lipid particles alleviates Machado-Joseph disease neurological phenotype. ( 26757259 )
2016
16
Mitochondrial NADH Dehydrogenase Subunit 3 Polymorphism Associated with an Earlier Age at Onset in Male Machado-Joseph disease Patients. ( 26336829 )
2015
17
Novel candidate blood-based transcriptional biomarkers of Machado-Joseph disease. ( 25914309 )
2015
18
Toward therapeutic targets for SCA3: Insight into the role of Machado-Joseph disease protein ataxin-3 in misfolded proteins clearance. ( 26123252 )
2015
19
Re-establishing ataxin-2 downregulates translation of mutant ataxin-3 and alleviates Machado-Joseph disease. ( 26490332 )
2015
20
Neuropeptide Y mitigates neuropathology and motor deficits in mouse models of Machado-Joseph disease. ( 26220979 )
2015
21
Chinese homozygous Machado-Joseph disease (MJD)/SCA3: a case report. ( 25566755 )
2015
22
NREM-related parasomnias in Machado-Joseph disease: clinical and polysomnographic evaluation. ( 26359123 )
2015
23
Serotonergic signalling suppresses ataxin 3 aggregation and neurotoxicity in animal models of Machado-Joseph disease. ( 26373603 )
2015
24
Transplantation of cerebellar neural stem cells improves motor coordination and neuropathology in Machado-Joseph disease mice. ( 25527827 )
2015
25
Cytokines in Machado Joseph Disease/Spinocerebellar Ataxia 3. ( 26395908 )
2015
26
Cervical and ocular vestibular evoked potentials in Machado-Joseph disease: Functional involvement of otolith pathways. ( 26365285 )
2015
27
Excessive neural synchrony in Machado-Joseph disease responsive to subthalamic nucleus stimulation. ( 25689061 )
2015
28
Limited Effect of Chronic Valproic Acid Treatment in a Mouse Model of Machado-Joseph Disease. ( 26505994 )
2015
29
Strabismus and Micro-Opsoclonus in Machado-Joseph Disease. ( 26306823 )
2015
30
Psychosis in Machado-Joseph Disease: Clinical Correlates, Pathophysiological Discussion, and Functional Brain Imaging. Expanding the Cerebellar Cognitive Affective Syndrome. ( 26298474 )
2015
31
Dystonia in Machado-Joseph disease: Clinical profile, therapy and anatomical basis. ( 26552869 )
2015
32
Planning future clinical trials in Machado Joseph disease: Lessons from a phase 2 trial. ( 26297649 )
2015
33
Cerebral cortex involvement in Machado-Joseph disease. ( 25251537 )
2014
34
Valproic acid attenuates the suppression of acetyl histone H3 and CREB activity in an inducible cell model of Machado-Joseph disease. ( 25068645 )
2014
35
Lithium chloride therapy fails to improve motor function in a transgenic mouse model of machado-joseph disease. ( 25112410 )
2014
36
The APOE I/2 allele may decrease the age at onset in patients with spinocerebellar ataxia type 3 or Machado-Joseph disease from the Chinese Han population. ( 24746364 )
2014
37
Excessive fragmentary myoclonus in Machado-Joseph disease. ( 24518960 )
2014
38
Nystagmus as an early ocular alteration in Machado-Joseph disease (MJD/SCA3). ( 24450306 )
2014
39
The role of apolipoprotein e as a risk factor for an earlier age at onset for machado-joseph disease is doubtful. ( 25369462 )
2014
40
Spinal Cord Damage in Machado-Joseph Disease. ( 25370748 )
2014
41
Machado-Joseph disease in a Nigerian family: mutational origin and review of the literature. ( 24781759 )
2014
42
Calpain inhibition reduces ataxin-3 cleavage alleviating neuropathology and motor impairments in mouse models of Machado-Joseph disease. ( 24817574 )
2014
43
Eyelid retraction is not a pathognomonic sign of Machado-Joseph disease in the context of spinocerebellar ataxias. ( 24760100 )
2014
44
RNA interference mitigates motor and neuropathological deficits in a cerebellar mouse model of Machado-Joseph disease. ( 25144231 )
2014
45
Neurophysiological studies and non-motor symptoms prior to ataxia in a patient with machado-joseph disease: trying to understand the natural history of brain degeneration. ( 24604677 )
2014
46
A randomized, phase 2 clinical trial of lithium carbonate in Machado-Joseph disease. ( 24399647 )
2014
47
Genetic counseling and presymptomatic testing programs for Machado-Joseph Disease: lessons from Brazil and Portugal. ( 24764760 )
2014
48
Differential mtDNA Damage Patterns in a Transgenic Mouse Model of Machado-Joseph Disease (MJD/SCA3). ( 25001003 )
2014
49
Modifiers of (CAG)(n) instability in Machado-Joseph disease (MJD/SCA3) transmissions: an association study with DNA replication, repair and recombination genes. ( 25026993 )
2014
50
Chronic treatment with 17-DMAG improves balance and coordination in a new mouse model of Machado-Joseph disease. ( 24477711 )
2014

Variations for Machado-Joseph Disease

ClinVar genetic disease variations for Machado-Joseph Disease:

6
id 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

GO Terms for Machado-Joseph Disease

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

id Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.9 ATN1 ATXN1 ATXN2 ATXN3 ATXN7 CACNA1A
2 nuclear matrix GO:0016363 9.26 ATN1 ATXN1 ATXN3 ATXN7
3 nuclear inclusion body GO:0042405 8.8 ATXN1 ATXN3 ATXN3L

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

(show all 12)
id Name GO ID Score Top Affiliating Genes
1 translesion synthesis GO:0019985 9.51 RPS27A VCP
2 error-free translesion synthesis GO:0070987 9.49 RPS27A VCP
3 exploration behavior GO:0035640 9.48 ATXN3L HTR1A
4 dopamine biosynthetic process GO:0042416 9.46 SLC6A3 SNCA
5 proteasome-mediated ubiquitin-dependent protein catabolic process GO:0043161 9.46 ATXN3 ATXN3L RPS27A VCP
6 misfolded or incompletely synthesized protein catabolic process GO:0006515 9.43 ATXN3 ATXN3L
7 regulation of dopamine metabolic process GO:0042053 9.4 HTR1A SLC6A3
8 cellular response to misfolded protein GO:0071218 9.37 ATXN3 ATXN3L
9 monoubiquitinated protein deubiquitination GO:0035520 9.32 ATXN3 ATXN3L
10 dopamine uptake involved in synaptic transmission GO:0051583 9.26 SLC6A3 SNCA
11 protein deubiquitination GO:0016579 9.02 ATXN3 ATXN3L ATXN7 RPS27A VCP
12 regulation of cell-substrate adhesion GO:0010810 8.96 ATXN3 ATXN3L

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

id Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.93 ATN1 ATXN1 ATXN2 ATXN3 ATXN7 CACNA1A
2 identical protein binding GO:0042802 9.35 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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