SCA3
MCID: MCH002
MIFTS: 64

Machado-Joseph Disease (SCA3)

Categories: Eye diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare 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 spinocerebellar ataxia 2 and olivopontocerebellar atrophy, and has symptoms including ataxia, abnormal pyramidal signs and abnormality of extrapyramidal motor function. 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 Akt Signaling. The drugs Lithium carbonate and Glutamic Acid have been mentioned in the context of this disorder. Affiliated tissues include eye, tongue and cerebellum, and related phenotypes are nystagmus and diplopia

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 : 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)

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.

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.

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 90)
# Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia 2 32.5 CACNA1A ATXN7 ATXN3 ATXN2
2 olivopontocerebellar atrophy 32.2 SNCA ATXN7 ATXN2
3 spinocerebellar ataxia 18 31.7 CACNA1A ATXN7 ATXN3
4 spinocerebellar ataxia 1 31.7 HTT CACNA1A ATXN7 ATXN3 ATXN1 ATN1
5 cerebellar degeneration 30.5 ATXN2 CACNA1A
6 rem sleep behavior disorder 30.5 SNCA SLC6A3 RPS27A
7 multiple system atrophy 1 30.3 SNCA SLC6A3 RPS27A ATXN1
8 dementia 30.2 VCP SNCA SLC6A3 ATXN2
9 motor neuron disease 30.1 VCP SNCA RPS27A
10 restless legs syndrome 30.1 SNCA SLC6A3 CACNA1A ATXN3
11 dentatorubral-pallidoluysian atrophy 30.1 HTT CACNA1A ATXN7 ATXN3 ATXN2 ATN1
12 autosomal dominant cerebellar ataxia 30.1 SNCA HTT CACNA1A ATXN7 ATXN3 ATXN2
13 aceruloplasminemia 30.0 SNCA CACNA1A ATXN7 ATXN3 ATXN2 ATXN1
14 friedreich ataxia 1 29.8 CACNA1A ATXN3 ATXN2 ATXN1
15 hereditary ataxia 29.6 CACNA1A ATXN7 ATXN3 ATXN2 ATXN1 ATN1
16 movement disease 29.5 SNCA SLC6A3 HTT
17 parkinson disease, late-onset 29.4 SNCA SLC6A3 RPS27A HTT HTR1A ATXN3
18 huntington disease 29.4 SNCA HTT ATXN3 ATXN1 ATN1
19 machado-joseph disease type 1 12.5
20 machado-joseph disease type 3 12.5
21 machado-joseph disease type 2 12.5
22 spinocerebellar atrophy with pupillary paralysis 12.1
23 spinocerebellar ataxia, x-linked 3 11.8
24 spinocerebellar atrophy 11.7
25 spinocerebellar degeneration 11.7
26 spinocerebellar ataxia, autosomal recessive 3 11.4
27 majeed syndrome 11.2
28 mohr-tranebjaerg syndrome 11.2
29 brachydactylous dwarfism mseleni type 11.1
30 dystonia 11, myoclonic 11.0
31 dystonia 10.6
32 neuropathy 10.6
33 ataxia and polyneuropathy, adult-onset 10.5
34 peripheral nervous system disease 10.4
35 dysphagia 10.4
36 anxiety 10.3
37 hereditary spastic paraplegia 10.3
38 polyneuropathy 10.3
39 paraplegia 10.3
40 muscular atrophy 10.3
41 spastic paraparesis 10.3
42 depression 10.3
43 myoclonus 10.3
44 spasticity 10.3
45 tremor 10.3
46 multiple sclerosis 10.2
47 myotonic dystrophy 1 10.2
48 strabismus 10.2
49 sleep apnea 10.2
50 azoospermia 10.2

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 48)
# 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 delayed speech and language development 59 32 hallmark (90%) Very frequent (99-80%) HP:0000750
6 skeletal muscle atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0003202
7 dystonia 59 32 very rare (1%) Very frequent (99-80%) HP:0001332
8 abnormality of temperature regulation 59 32 occasional (7.5%) Occasional (29-5%) HP:0004370
9 vocal cord paralysis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001605
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 vestibular dysfunction 59 32 occasional (7.5%) Occasional (29-5%) HP:0001751
16 ptosis 32 HP:0000508
17 ataxia 32 very rare (1%) HP:0001251
18 spasticity 32 very rare (1%) HP:0001257
19 dysphagia 32 HP:0002015
20 abnormal pyramidal signs 59 Very frequent (99-80%)
21 limb ataxia 32 HP:0002070
22 babinski sign 32 HP:0003487
23 urinary bladder sphincter dysfunction 32 HP:0002839
24 rigidity 32 HP:0002063
25 muscle cramps 32 HP:0003394
26 dementia 32 HP:0000726
27 fasciculations 32 very rare (1%) HP:0002380
28 truncal ataxia 32 HP:0002078
29 cerebellar atrophy 32 HP:0001272
30 bradykinesia 32 HP:0002067
31 external ophthalmoplegia 32 very rare (1%) HP:0000544
32 parkinsonism 32 very rare (1%) HP:0001300
33 postural instability 32 HP:0002172
34 impaired vibratory sensation 32 HP:0002495
35 absent achilles reflex 32 HP:0003438
36 distal amyotrophy 32 HP:0003693
37 supranuclear ophthalmoplegia 32 HP:0000623
38 gliosis 32 HP:0002171
39 spinocerebellar tract degeneration 32 HP:0002503
40 gaze-evoked nystagmus 32 very rare (1%) HP:0000640
41 dilated fourth ventricle 32 HP:0002198
42 dysmetric saccades 32 HP:0000641
43 chronic pain 32 HP:0012532
44 abnormal autonomic nervous system physiology 32 occasional (7.5%) HP:0012332
45 impaired horizontal smooth pursuit 32 HP:0001151
46 facial-lingual fasciculations 32 HP:0007089
47 abnormal pyramidal sign 32 hallmark (90%) HP:0007256
48 abnormal electrooculogram 32 HP:0030454

UMLS symptoms related to Machado-Joseph Disease:


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

MGI Mouse Phenotypes related to Machado-Joseph Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.2 ATN1 ATXN1 ATXN2 ATXN3 ATXN7 CACNA1A
2 growth/size/body region MP:0005378 10.13 ATN1 ATXN1 ATXN2 ATXN7 CACNA1A HSPB1
3 homeostasis/metabolism MP:0005376 10.1 ATN1 ATXN1 ATXN2 ATXN3 CACNA1A HSPB1
4 mortality/aging MP:0010768 10.07 ATN1 ATXN1 ATXN2 ATXN7 CACNA1A HTR1A
5 nervous system MP:0003631 10.06 ATN1 ATXN1 ATXN2 ATXN3 ATXN7 CACNA1A
6 no phenotypic analysis MP:0003012 9.73 ATN1 CACNA1A HSPB1 HTR1A HTT SNCA
7 reproductive system MP:0005389 9.7 ATN1 ATXN2 ATXN7 CACNA1A HTT SLC6A3
8 skeleton MP:0005390 9.5 ATN1 ATXN1 ATXN7 HTT SLC6A3 SNCA
9 taste/olfaction MP:0005394 8.8 HTT SLC6A3 SNCA

Drugs & Therapeutics for Machado-Joseph Disease

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

(show all 18)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lithium carbonate Approved Phase 2, Phase 3 554-13-2
2
Glutamic Acid Approved, Nutraceutical Phase 3 56-86-0 33032
3 Central Nervous System Depressants Phase 2, Phase 3
4 Psychotropic Drugs Phase 2, Phase 3
5 Antidepressive Agents Phase 2, Phase 3
6 Tranquilizing Agents 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 4-phenylbutyric acid Phase 2
11 Neurotransmitter Agents Phase 2
12 Cholinergic Agents Phase 2
13 Nicotinic Agonists Phase 2
14
Dopamine Approved 51-61-6, 62-31-7 681
15
4-Aminopyridine Approved Not Applicable 504-24-5 1727
16 Dopamine Agents
17 Dopamine agonists
18 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 BHV-4157 in Adult Subjects With Spinocerebellar Ataxia Not yet recruiting NCT03701399 Phase 3 troriluzole;Placebos
4 The Influence of Deep TMS on Cerebellar Signs in Patients With Machado Joseph Disease Completed NCT02039206 Phase 2
5 Pilot Study of Safety and Efficacy of Sodium Phenylbutyrate in Spinocerebellar Ataxia Type 3 Withdrawn NCT01096095 Phase 2 Placebo;Sodium Phenylbutyrate
6 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
7 Study to Determine the Safety and Tolerability of Varenicline (Chantix®) in Treating Spinocerebellar Ataxia Type 3 Completed NCT00992771 Phase 2 varenicline;placebo
8 Umbilical Cord Mesenchymal Stem Cells Therapy for Patients With Spinocerebellar Ataxia Not yet recruiting NCT03378414 Phase 2
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 Clinical Trial Readiness for SCA1 and SCA3 Recruiting NCT03487367
13 Natural History Study of and Genetic Modifiers in Spinocerebellar Ataxias Recruiting NCT01060371
14 The EUROSCA Natural History Study Recruiting NCT02440763
15 Parkinsonism in Spinocerebellar Ataxia Type 6 Completed NCT01934998
16 NIPD on CFTC for Triplet Repeat Diseases Recruiting NCT03087526 Not Applicable
17 Dalfampridine and Gait in Spinocerebellar Ataxias Completed NCT01811706 Not Applicable Dalfampridine;Placebo
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 Biomarkers in Autosomal Dominant Cerebellar Ataxia Completed NCT01470729
21 Measuring Neurological Impairment and Functional Visual Assessment In Spinocerebellar Ataxias Completed NCT00654251
22 Rehabilitative Trial With Cerebello-Spinal tDCS in Neurodegenerative Ataxia Active, not recruiting NCT03120013 Not Applicable
23 Development of iPS From Donated Somatic Cells of Patients With Neurological Diseases Recruiting NCT00874783

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 440)
# 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
The Neuropathology of Spinocerebellar Ataxia Type 3/Machado-Joseph Disease. ( 29427106 )
2018
6
Pharmacological Therapies for Machado-Joseph Disease. ( 29427114 )
2018
7
Accumulation of Mitochondrial DNA Common Deletion Since The Preataxic Stage of Machado-Joseph Disease. ( 29679261 )
2018
8
Clinical Features of Machado-Joseph Disease. ( 29427108 )
2018
9
Origins and Spread of Machado-Joseph Disease Ancestral Mutations Events. ( 29427107 )
2018
10
Polyglutamine-Independent Features in Ataxin-3 Aggregation and Pathogenesis of Machado-Joseph Disease. ( 29427109 )
2018
11
Towards the Identification of Molecular Biomarkers of Spinocerebellar Ataxia Type 3 (SCA3)/Machado-Joseph Disease (MJD). ( 29427111 )
2018
12
Dystonia in Patients with Spinocerebellar Ataxia 3 - Machado-Joseph disease: An Underestimated Diagnosis? ( 30008965 )
2018
13
Cerebellar lncRNA Expression Profile Analysis of SCA3/MJD Mice. ( 30046585 )
2018
14
Investigation on modulation of DNA repair pathways in Chinese MJD patients. ( 30033072 )
2018
15
Polymorphisms in DNA methylation-related genes are linked to the phenotype of Machado-Joseph disease. ( 30554804 )
2018
16
Mitochondrial DNA haplogroups and age at onset of Machado-Joseph disease/Spinocerebellar ataxia type 3: a study in patients from multiple populations. ( 30414314 )
2018
17
Genetic risk factors for modulation of age at onset in Machado-Joseph disease/spinocerebellar ataxia type 3: a systematic review and meta-analysis. ( 30337442 )
2018
18
Cordycepin activates autophagy through AMPK phosphorylation to reduce abnormalities in Machado-Joseph disease models. ( 30219871 )
2018
19
Citalopram Reduces Aggregation of ATXN3 in a YAC Transgenic Mouse Model of Machado-Joseph Disease. ( 30187384 )
2018
20
Preclinical Evidence Supporting Early Initiation of Citalopram Treatment in Machado-Joseph Disease. ( 30173407 )
2018
21
Tremor during orthostatism as the initial symptom of Machado-Joseph disease. ( 30149304 )
2018
22
Repeated Mesenchymal Stromal Cell Treatment Sustainably Alleviates Machado-Joseph Disease. ( 30087083 )
2018
23
The Machado-Joseph disease-associated expanded form of ataxin-3: Overexpression, purification, and preliminary biophysical and structural characterization. ( 30036587 )
2018
24
Spastic paraparesis as the first manifestation of Machado-Joseph disease: A case report and review of the literature. ( 30007589 )
2018
25
Machado-Joseph disease/spinocerebellar ataxia type 3: lessons from disease pathogenesis and clues into therapy. ( 29959858 )
2018
26
Deregulation of autophagy in postmortem brains of Machado-Joseph disease patients. ( 29218765 )
2017
27
Promoter Variant Alters Expression of the Autophagic BECN1 Gene: Implications for Clinical Manifestations of Machado-Joseph Disease. ( 28699106 )
2017
28
Calpain Inhibition Is Protective in Machado-Joseph Disease Zebrafish Due to Induction of Autophagy. ( 28687604 )
2017
29
Paula Coutinho's outstanding contribution to the definition of Machado-Joseph disease. ( 29166467 )
2017
30
Peripheral Oxidative Stress Biomarkers in Spinocerebellar Ataxia Type 3/Machado-Joseph Disease. ( 28979235 )
2017
31
Cancer in Machado-Joseph disease patients-low frequency as a cause of death. ( 28449807 )
2017
32
Unravelling Endogenous MicroRNA System Dysfunction as a New Pathophysiological Mechanism in Machado-Joseph Disease. ( 28236575 )
2017
33
A combinatorial approach to identify calpain cleavage sites in the Machado-Joseph disease protein ataxin-3. ( 28334907 )
2017
34
Ubiquitin-related network underlain by (CAG)n loci modulate age at onset in Machado-Joseph disease. ( 28334945 )
2017
35
Neural correlates of ataxia severity in spinocerebellar ataxia type 3/Machado-Joseph disease. ( 28593048 )
2017
36
Mid- and long-term anxiety levels associated with presymptomatic testing of Huntington's disease, Machado-Joseph disease, and familial amyloid polyneuropathy. ( 26870910 )
2016
37
Fatigue and Its Associated Factors in Spinocerebellar Ataxia Type 3/Machado-Joseph Disease. ( 27021342 )
2016
38
Ophthalmological Features of Machado-Joseph Disease. ( 28666509 )
2016
39
The Machado-Joseph Disease Deubiquitinase Ataxin-3 Regulates the Stability and Apoptotic Function of p53. ( 27851749 )
2016
40
Combined therapy with m-TOR-dependent and -independent autophagy inducers causes neurotoxicity in a mouse model of Machado-Joseph disease. ( 26601773 )
2016
41
Fibroblasts of Machado Joseph Disease patients reveal autophagy impairment. ( 27328712 )
2016
42
ATXN2 polymorphism modulates age at onset in Machado-Joseph disease. ( 27452601 )
2016
43
Spinocerebellar ataxia type 3/Machado-Joseph disease starting before adolescence. ( 26780339 )
2016
44
(CAG)n loci as genetic modifiers of age-at-onset in patients with Machado-Joseph disease from mainland China. ( 27085188 )
2016
45
Anterior horn degeneration in Machado-Joseph disease. ( 27538651 )
2016
46
Lithium carbonate and coenzyme Q10 reduce cell death in a cell model of Machado-Joseph disease. ( 27878228 )
2016
47
Sleep disorders in Machado-Joseph disease. ( 27584711 )
2016
48
Caloric restriction blocks neuropathology and motor deficits in Machado-Joseph disease mouse models through SIRT1 pathway. ( 27165717 )
2016
49
Intravenous administration of brain-targeted stable nucleic acid lipid particles alleviates Machado-Joseph disease neurological phenotype. ( 26757259 )
2016
50
Safety and efficacy of valproic acid treatment in SCA3/MJD patients. ( 26997655 )
2016

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) NT expansion Pathogenic GRCh38 Chromosome 14, 92071038: 92071040
2 ATXN3 NM_004993.5(ATXN3) NT expansion Pathogenic GRCh37 Chromosome 14, 92537382: 92537384
3 ATXN3 NM_004993.5(ATXN3) NT expansion Benign GRCh38 Chromosome 14, 92071038: 92071040
4 ATXN3 NM_004993.5(ATXN3) NT expansion Benign GRCh37 Chromosome 14, 92537382: 92537384
5 ATXN3 NM_004993.5(ATXN3): c.892_894CAG(8_36) (p.Gln298_Gln305=) NT expansion Pathogenic,risk factor rs193922928 GRCh38 Chromosome 14, 92071011: 92071013
6 ATXN3 NM_004993.5(ATXN3): c.892_894CAG(8_36) (p.Gln298_Gln305=) NT expansion Pathogenic,risk factor rs193922928 GRCh37 Chromosome 14, 92537355: 92537357
7 ATXN3 NM_004993.5(ATXN3): c.916G> C (p.Gly306Arg) single nucleotide variant Benign/Likely benign rs12895357 GRCh38 Chromosome 14, 92071010: 92071010
8 ATXN3 NM_004993.5(ATXN3): c.916G> C (p.Gly306Arg) single nucleotide variant Benign/Likely benign rs12895357 GRCh37 Chromosome 14, 92537354: 92537354

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 cytoplasm GO:0005737 9.73 ATN1 ATXN1 ATXN2 ATXN3 ATXN7 CACNA1A
2 perinuclear region of cytoplasm GO:0048471 9.65 ATN1 ATXN2 HTT SNCA VCP
3 inclusion body GO:0016234 9.4 HTT SNCA
4 nuclear inclusion body GO:0042405 9.16 ATXN1 ATXN3
5 nuclear matrix GO:0016363 8.92 ATN1 ATXN1 ATXN3 ATXN7
6 nucleus GO:0005634 10.11 ATN1 ATXN1 ATXN3 ATXN3L ATXN7 CACNA1A
7 cytosol GO:0005829 10.02 ATXN1 ATXN2 ATXN3 ATXN3L ATXN7 HSPB1

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

# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.73 CACNA1A RPS27A SLC6A3 VCP
2 translesion synthesis GO:0019985 9.4 RPS27A VCP
3 error-free translesion synthesis GO:0070987 9.37 RPS27A VCP
4 exploration behavior GO:0035640 9.32 ATXN3 HTR1A
5 dopamine biosynthetic process GO:0042416 9.26 SLC6A3 SNCA
6 chemical synaptic transmission GO:0007268 9.26 ATXN3 CACNA1A HTR1A SNCA
7 regulation of dopamine metabolic process GO:0042053 9.16 HTR1A SLC6A3
8 protein deubiquitination GO:0016579 9.02 ATXN3 ATXN3L ATXN7 RPS27A VCP

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

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.55 ATXN1 HSPB1 HTT SNCA VCP
2 protein binding GO:0005515 9.44 ATN1 ATXN1 ATXN2 ATXN3 ATXN7 CACNA1A
3 beta-tubulin binding GO:0048487 9.26 HTT SNCA
4 thiol-dependent ubiquitinyl hydrolase activity GO:0036459 9.13 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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