SCA3
MCID: MCH002
MIFTS: 63

Machado-Joseph Disease (SCA3) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Machado-Joseph Disease

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Aliases & Descriptions for Machado-Joseph Disease:

Name: Machado-Joseph Disease 52 11 23 48 24 25 49 54 70 12 50 39 13 68
Mjd 11 23 48 24 25 54 70
Sca3 23 48 24 25 54 70
Spinocerebellar Ataxia Type 3 11 23 24 25 54
Spinocerebellar Ataxia 3 11 48 70
Azorean Disease 11 25 27
Azorean Ataxia 23 24 25
Nigrospinodentatal Degeneration 48 70
Azorean Neurologic Disease 48 70
 
Spinopontine Atrophy 48 68
Nigro-Spino-Dentatal Degeneration with Nuclear Ophthalmoplegia 54
Autosomal Dominant Striatonigral Degeneration 54
Azorean Disease of the Nervous System 54
Spinocerebellar Atrophy Type 3 48
Spinocerebellar Atrophy 70
Ataxia, Spinocerebellar 68
Machado Disease 54
Sca 3 24

Characteristics:

Orphanet epidemiological data:

54
machado-joseph disease:
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

HPO:

64
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:



External Ids:

OMIM52 109150
Disease Ontology11 DOID:1440
NCIt45 C84830
SNOMED-CT62 91952008
Orphanet54 ORPHA98757
ICD10 via Orphanet31 G11.8
MedGen37 C0024408

Summaries for Machado-Joseph Disease

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NIH Rare Diseases:48 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 muscular fasciculation, muscular fasciculation and muscle cramp. An important gene associated with Machado-Joseph Disease is ATXN3 (Ataxin 3), and among its related pathways are Alpha-synuclein signaling and Protein processing in endoplasmic reticulum. Affiliated tissues include eye, tongue and cerebellum, and related mouse phenotypes are growth/size/body region and homeostasis/metabolism.

Disease Ontology:11 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:52 Machado-Joseph disease, named for affected families of Azorean extraction, is an autosomal dominant progressive... (109150) more...

NINDS:49 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:70 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... more...

GeneReviews for NBK1196

Related Diseases for Machado-Joseph Disease

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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)
idRelated DiseaseScoreTop Affiliating Genes
1machado-joseph disease type 112.2
2machado-joseph disease type 312.2
3machado-joseph disease type 212.2
4spinocerebellar ataxia 211.5
5olivopontocerebellar atrophy11.5
6spinocerebellar ataxia 111.2
7spinocerebellar ataxia, x-linked 310.9
8majeed syndrome10.8
9ataxia10.8
10neuronitis10.4
11spasticity10.3
12cerebellar ataxia10.3
13dystonia10.3
14neuropathy10.3
15autonomic dysfunction10.2
16multiple system atrophy10.2
17sleep disorder10.2
18striatonigral degeneration10.1
19anodontia10.1HTR1A, SLC6A3
20hereditary spastic paraplegia10.1
21dementia10.1
22polyneuropathy10.1
23cerebritis10.1
24paraplegia10.1
25muscular atrophy10.1
26rem sleep behavior disorder10.1
27dysphagia10.1
28myoclonus10.1
29spastic paraplegia 50, autosomal recessive10.1ATXN3, ATXN7, CACNA1A
30lissencephaly 6, with microcephaly10.1ATXN3, ATXN7, CACNA1A
31andersen syndrome10.1RPS27A, VCP
32deafness, autosomal recessive 10110.0RPS27A, SNCA
33severe congenital nemaline myopathy10.0RPS27A, VCP
34lower gum cancer10.0RPS27A, SLC6A3, SNCA
35hypocalcemia, autosomal dominant 210.0ATXN3, ATXN7, CACNA1A, SLC6A3
36meier-gorlin syndrome 510.0RPS27A, SLC6A3, SNCA
37coenzyme q10 deficiency, primary, 110.0RPS27A, SLC6A3, SNCA
38charcot-marie-tooth disease, axonal, type 2l10.0ATXN2, ATXN3, ATXN7, CACNA1A
39adams-oliver syndrome 410.0ATXN2, ATXN7
40gallbladder adenoma10.0RPS27A, SLC6A3, SNCA
41acute interstitial pneumonia10.0ATXN2, ATXN3, ATXN7, CACNA1A
42personality disorder9.9HTR1A, SLC6A3, SNCA
43huntington disease9.9
44hereditary ataxia9.9
45motor neuron disease9.9
46restless legs syndrome9.9
47azoospermia9.9
48autosomal dominant cerebellar ataxia9.9
49vaginitis9.9
50cervicitis9.9

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



Diseases related to machado-joseph disease

Symptoms & Phenotypes for Machado-Joseph Disease

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Symptoms by clinical synopsis from OMIM:

109150

Clinical features from OMIM:

109150

Human phenotypes related to Machado-Joseph Disease:

 64 (show all 36)
id Description HPO Frequency HPO Source Accession
1 ptosis64 HP:0000508
2 proptosis64 HP:0000520
3 external ophthalmoplegia64 HP:0000544
4 supranuclear ophthalmoplegia64 HP:0000623
5 gaze-evoked nystagmus64 HP:0000640
6 dysmetric saccades64 HP:0000641
7 diplopia64 HP:0000651
8 dementia64 HP:0000726
9 impaired horizontal smooth pursuit64 HP:0001151
10 ataxia64 HP:0001251
11 spasticity64 HP:0001257
12 dysarthria64 HP:0001260
13 cerebellar atrophy64 HP:0001272
14 parkinsonism64 HP:0001300
15 dystonia64 HP:0001332
16 dysphagia64 HP:0002015
17 rigidity64 HP:0002063
18 bradykinesia64 HP:0002067
19 limb ataxia64 HP:0002070
20 progressive cerebellar ataxia64 HP:0002073
21 truncal ataxia64 HP:0002078
22 gliosis64 HP:0002171
23 postural instability64 HP:0002172
24 dilated fourth ventricle64 HP:0002198
25 fasciculations64 HP:0002380
26 dysautonomia64 HP:0002459
27 impaired vibratory sensation64 HP:0002495
28 spinocerebellar tract degeneration64 HP:0002503
29 urinary bladder sphincter dysfunction64 HP:0002839
30 muscle cramps64 HP:0003394
31 absent achilles reflex64 HP:0003438
32 babinski sign64 HP:0003487
33 distal amyotrophy64 HP:0003693
34 facial-lingual fasciculations64 HP:0007089
35 chronic pain64 HP:0012532
36 abnormal electrooculogram64 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 according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053787.5ATN1, ATXN1, ATXN2, ATXN7, CACNA1A, HSPB1
2MP:00053767.3ATN1, ATXN1, ATXN2, ATXN3, CACNA1A, HSPB1
3MP:00107687.3ATN1, ATXN1, ATXN2, ATXN7, CACNA1A, HTR1A
4MP:00053867.1ATN1, ATXN1, ATXN2, ATXN3, ATXN7, CACNA1A
5MP:00036316.2ATN1, ATXN1, ATXN2, ATXN3, ATXN7, CACNA1A

Drugs & Therapeutics for Machado-Joseph Disease

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

(show top 50)    (show all 141)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Estradiolapproved, investigational, vet_approvedPhase 4131850-28-25757, 53477783
Synonyms:
(+)-3,17b-Estradiol
(17b)-Estra-1,3,5(10)-triene-3,17-diol
(17beta)-Estra-1,3,5(10)-triene-3,17-diol
.alpha.-Estradiol
.alpha.-Oestradiol
.beta.-Estradiol
.beta.-Oestradiol
1,3,5[10]-Estratriene-3,17beta-diol 3-sulfate
1,3,5[10]-Estratriene-3,17beta-diol 3-sulphate
13b-Methyl-1,3,5(10)-gonatriene-3,17b-ol
17 beta-Estradiol
17-.BETA.-Estradiol
17-E
17-beta
17-beta-OH-estradiol
17-beta-estradiol
17.beta.-Estradiol
17.beta.-Oestradiol
17E
17b-Estradiol
17b-Oestradiol
17beta Oestradiol
17beta oestradiol
17beta-Estra-1,3,5(10)-triene-3,17-diol
17beta-Estradiol
17beta-Oestradiol
1jgl
1qkt
1qku
2d06
3,17-Epidihydroxyestratriene
3,17-beta-Estradiol
3,17-beta-Oestradiol
3,17.beta.-Estradiol
3,17b-Dihydroxyestra-1,3,5(10)-triene
3,17b-Estradiol
3,17beta-Estradiol
3,17beta-dihydroxy-1,3,5[10]-estratriene 3-sulfate
3,17beta-dihydroxy-1,3,5[10]-estratriene 3-sulphate
50-28-2
73459-61-7
873662-39-6
AC-10460
AC1L1L2K
Aerodiol
Agofollin
Alora
Altrad
Amnestrogen
Aquadiol
B-Estradiol
BEDOs
BIDD:ER0125
BIDD:PXR0065
BPBio1_000532
BSPBio_000482
BSPBio_001065
Bardiol
Benzhormovarine
Beta-estradiol
Bio-0812
Bio-E-Gel
Bio1_000403
Bio1_000892
Bio1_001381
Bio2_000363
Bio2_000843
C00951
C18H24O2
CCRIS 280
CHEBI:16469
CHEMBL135
CID5757
CMC_11154
CPD-352
CPD000059126
Climaderm
Climara
Climara (TN)
Climara Forte
Compudose
Compudose 200
Compudose 365
Corpagen
D-3,17beta-Estradiol
D-Estradiol
D-Oestradiol
D00105
DB00783
Dermestril
Destradiol
Dihydro-Theelin
Dihydrofollicular hormone
Dihydrofolliculin
Dihydromenformon
Dihydrotheelin
Dihydroxyesterin
Dihydroxyestrin
Dihydroxyoestrin
Dimenformon
Diogyn
Diogynets
Divigel
Divigel (TN)
E 2
E 8875
E(sub 2)
E0025
E1024_SIGMA
E1132_SIGMA
E2257_SIGMA
E2758_SIGMA
E8875_SIGMA
EINECS 200-023-8
EU-0100503
Elestrin
Encore
Epiestriol 50
Esclim
Estra-1,3,5(10)-triene-3,17b-diol
Estrace
Estrace (TN)
Estraderm
Estraderm (TN)
Estraderm MX
Estraderm TTS
Estraderm TTS 100
Estraderm TTS 50
Estradiol
Estradiol [USAN:INN]
Estradiol-17 beta
Estradiol-17-beta
Estradiol-17.beta.
Estradiol-17beta
Estradiol-3,17beta
Estradiolo
Estradiolo [DCIT]
Estradiolum
Estradiolum [INN]
Estradot
Estraldine
Estrapak 50
Estrasorb
Estrasorb (TN)
Estreva
Estrifam
Estring
Estring (TN)
Estring Vaginal Ring
Estring vaginal ring
Estroclim
Estroclim 50
Estrodiolum
Estrofem 2
Estrofem Forte
Estrogel
 
Estrogel (TN)
Estrogel HBF
Estrovite
Evamist
Evorel
Extrasorb
Femanest
Femestral
Femestrol
Femogen
Fempatch
Femtrace
Femtran
Follicyclin
Gelestra
Ginedisc
Ginosedol
GynPolar
Gynergon
Gynestrel
Gynodiol
Gynoestryl
HMS1362E07
HMS1569I04
HMS1792E07
HMS1990E07
HMS2051C17
HMS2090E18
HSDB 3589
IDI1_002118
Innofem
Innofem (TN)
KBio2_000405
KBio2_002269
KBio2_002973
KBio2_004837
KBio2_005541
KBio2_007405
KBio3_000769
KBio3_000770
KBio3_002749
KBioGR_000405
KBioGR_002269
KBioSS_000405
KBioSS_002270
LMST02010001
LS-137
Lamdiol
Lio-Oid
Lopac0_000503
MLS000069494
MLS000758312
MLS001076331
Macrodiol
Macrol
Menest
Menorest
Menostar
Microdiol
MolPort-001-794-632
NCGC00091544-00
NCGC00091544-01
NCGC00091544-02
NCGC00091544-04
NCGC00091544-05
NCGC00091544-06
NCGC00091544-07
NCGC00091544-08
NCGC00091544-09
NCGC00091544-12
NCGC00179321-01
NCGC00179321-02
NSC-9895
NSC9895
Nordicol
Oesclim
Oestergon
Oestra-1,3,5(10)-triene-3,17b-diol
Oestradiol
Oestradiol Berco
Oestradiol R
Oestradiol-17-beta
Oestradiol-17.beta.
Oestradiol-17beta
Oestradiolum
Oestrogel
Oestroglandol
Oestrogynal
Ovahormon
Ovasterol
Ovastevol
Ovociclina
Ovocyclin
Ovocycline
Ovocylin
Perlatanol
Polyestradiol
Prestwick0_000441
Prestwick1_000441
Prestwick2_000441
Prestwick3_000441
Prestwick_207
Primofol
Profoliol
Profoliol B
Progynon
Progynon DH
Progynon-DH
S-21400
S1709_Selleck
SAM001247032
SK-Estrogens
SL-1100
SMP1_000121
SMR000059126
SPBio_002421
Sandrena 1
Sandrena Gel
Sisare Gel
Spectrum5_002055
Syndiol
Systen
Tradelia
Trial SAT
Trocosone
UNII-4TI98Z838E
VIVELLE-DOT
Vagifem
Vagifem (TN)
Vivelle
Vivelle (TN)
Zerella
Zesteem
Zesteen
Zumenon
[2,4,6,7-3H]-E2
[3H]-estradiol
[3H]]estradiol
b-Estradiol
beta-Estradiol
beta-Estradiol 3-sulfate
beta-Estradiol 3-sulphate
bmse000642
cMAP_000005
cis-Estradiol
cis-Oestradiol
component of Menrium
delta-Estradiol
delta-Oestradiol
estradiol
estradiol-17beta
nchembio.168-comp3
nchembio.76-comp2
nchembio775-comp2
nchembio794-comp6
nchembio860-comp1
progynon
2
ClonidineapprovedPhase 42404205-90-72803
Synonyms:
1H-Imidazol-2-amine, N-(2,6-dichlorophenyl)-4,5-dihydro- (9CI)
2,6-Dichloro-N-2-imidazolidinylidenebenzenamine
2,6-dichloro-N-(2-imidazolidinylidene)aniline
2,6-dichloro-N-2-imidazolidinylidenebenzenamide
2,6-dichloro-N-imidazolidin-2-ylideneaniline
2-((2,6-Dichlorophenyl)imino)imidazolidine
2-(2,6-Dichloroanilino)-1,3-diazacyclopentene-(2)
2-(2,6-Dichloroanilino)-2-imidazoline
2-(2,6-Dichlorophenylamino)-2-imidazoline
2-(2,6-Dichlorophenylimino)imidazolidine
2-Imidazoline, 2-(2,6-dichloroanilino)- (7CI,8CI)
2-[(2,6-Dichlorophenyl)imino]imidazoline
2-[(2,6-dichlorophenyl)imino]-2-imidazoline
4205-90-7
4205-91-8 (mono-hydrochloride)
57066-25-8
734571A
AB00514634
AC1L1EI5
AC1Q3K6V
AKOS001595470
Adesipress
BIDD:GT0547
BPBio1_000040
BRD-K98530306-001-02-1
BRD-K98530306-003-05-0
BSPBio_000036
BSPBio_001588
BSPBio_002055
Bio1_000470
Bio1_000959
Bio1_001448
Bio2_000308
Bio2_000788
C9H9Cl2N3
CAS-4205-91-8
CATAPRES-TTS-1
CATAPRES-TTS-2
CATAPRES-TTS-3
CCRIS 7787
CHEBI:3757
CHEBI:46632
CHEMBL134
CID2803
Catapres
Catapres- TTS
Catapres-TTS
Catapresan
Catapressan
Catarpres
Catarpres-TTS
Catarpres-TTS (TN)
Catarpresan
Chlofazoline
Chlornidinum
Clofenil
Clonidin
Clonidina
Clonidina [INN-Spanish]
Clonidine (JAN/USAN/INN)
Clonidine HCl
Clonidine [USAN:BAN:INN]
Clonidinhydrochlorid
Clonidinum
Clonidinum [INN-Latin]
Clonistada
Clopheline
D00281
DB00575
DB07566
DivK1c_000774
 
Dixarit
Duraclon
Duraclont
EINECS 224-119-4
Gemiton
HMS1361P10
HMS1791P10
HMS1989P10
HMS2089G11
HSDB 3040
Hemiton
IDI1_000774
IDI1_034058
Ipotensium
Isoglaucon
KBio1_000774
KBio2_000308
KBio2_001821
KBio2_002876
KBio2_004389
KBio2_005444
KBio2_006957
KBio3_000615
KBio3_000616
KBio3_001275
KBioGR_000308
KBioGR_001572
KBioSS_000308
KBioSS_001821
Klofelin
Klofenil
L000193
LS-79606
Lopac-C-7897
Lopac0_000268
M 5041T
M-5041T
MolPort-001-779-668
MolPort-005-932-374
N-(2,6-Dichlorophenyl)-4,5-dihydro-1H-imidazol-2-amine
NCGC00015268-01
NCGC00015268-02
NCGC00015268-08
NCGC00024734-01
NCGC00024734-02
NCGC00024734-03
NCGC00024734-04
NCGC00024734-05
NCGC00179680-01
NINDS_000774
Prestwick0_000248
Prestwick1_000248
Prestwick2_000248
Prestwick3_000248
SKF 34427
SPBio_001233
SPBio_002255
ST 155BS
ST-155-BS
ST-155BS
Spectrum2_001187
Spectrum3_000358
Spectrum4_000956
Spectrum5_000759
Spectrum_001341
T171
Tenso-Timelets
Tocris-0690
UNII-MN3L5RMN02
ZINC00896484
clonidine
nchembio.79-comp11
nchembio705-10
3Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 4, Phase 313168
4HormonesPhase 4, Phase 314415
5Hormone AntagonistsPhase 4, Phase 313180
6insulinPhase 44646
7Insulin, Globin ZincPhase 44645
8SympatholyticsPhase 4580
9Adrenergic AgentsPhase 45352
10Polyestradiol phosphatePhase 41318
11Neurotransmitter AgentsPhase 4, Phase 2, Phase 318340
12MitogensPhase 41617
13EstrogensPhase 42542
14Peripheral Nervous System AgentsPhase 4, Phase 323689
15AnalgesicsPhase 411733
16Adrenergic alpha-AgonistsPhase 41734
17Adrenergic AgonistsPhase 43027
18Estradiol valeratePhase 41318979-32-8
19Antihypertensive AgentsPhase 4, Phase 24207
20Adrenergic alpha-2 Receptor AgonistsPhase 4980
21Estradiol 17 beta-cypionatePhase 41318
22Contraceptive AgentsPhase 41967
23Estradiol 3-benzoatePhase 41318
24Autonomic AgentsPhase 4, Phase 310150
25arginineNutraceuticalPhase 4425
26Idebenoneapproved, investigationalPhase 3, Phase 2, Phase 12158186-27-9
27
Dexamethasoneapproved, investigational, vet_approvedPhase 3217150-02-25743
Synonyms:
(3H)-Dexamethasone
.delta.(sup 1)-9-.alpha.-Fluoro-16-.alpha.-methylcortisol
.gamma.corten
1-Dehydro-16.alpha.-methyl-9.alpha.-fluorohydrocortisone
1-Dehydro-16alpha -methyl-9alpha -fluorohydrocortisone
1-Dehydro-16alpha-methyl-9alpha-fluorohydrocortisone
1-Dehydro-16α-methyl-9α-fluorohydrocortisone
137098-19-2
16-alpha-Methyl-9-alpha-fluoro-1-dehydrocortisol
16-alpha-Methyl-9-alpha-fluoro-delta(sup 1)-hydrocortisone
16-alpha-Methyl-9-alpha-fluoro-delta1-hydrocortisone
16-alpha-Methyl-9-alpha-fluoroprednisolone
16.alpha.-Methyl-9.alpha.-fluoro-1-dehydrocortisol
16.alpha.-Methyl-9.alpha.-fluoroprednisolone
16alpha -Methyl-9alpha -fluoro-1-dehydrocortisol
16alpha -Methyl-9alpha -fluoroprednisolone
16alpha-Methyl-9alpha-fluoro-1-dehydrocortisol
16alpha-Methyl-9alpha-fluoro-delta(sup 1)-hydrocortisone
16alpha-Methyl-9alpha-fluoroprednisolone
16α-Methyl-9α-fluoro-1-dehydrocortisol
23495-06-9
31375_FLUKA
46165_FLUKA
46165_RIEDEL
50-02-2
8054-59-9
9-Fluoro-11,17,21-trihydroxy-16-methylpregna-1,4-diene-3,20-dione
9-Fluoro-11alpha -methylpregna-1,4-diene-3,20-dione
9-Fluoro-16-methylprednisolone
9-alpha-Fluoro-16-alpha-methylprednisolone
9.alpha.-Fluoro-16.alpha.-methylprednisolone
906422-84-2
9A-FLUORO-16BETA-METHYLPREDNISOLONE
9alpha -Fluoro-16alpha -methylprednisolone
9alpha-Fluoro-16alpha-methylprednisolone
9alpha-fluoro-16alpha-methyl-Prednisolone
9α-Fluoro-16α-methylprednisolone
AC-11056
AC1L1L1H
AC1Q29DM
AI3-50934
Adexone
Aeroseb-D
Aeroseb-Dex
Aeroseb-dex
Ak Dex Oph Otic Soln 0.1%
Alcon Brand of Dexamethasone
Anaflogistico
Aphtasolon
Aphthasolone
Apo-dexamethasone
Auxiron
Azimycin (veterinary)
Azium
Azium (Veterinary)
Azium (veterinary)
BIDD:ER0494
BIDD:PXR0060
BRD-K38775274-001-02-3
BRD-K38775274-001-06-4
BSPBio_000995
Bisu DS
Bisu Ds
C15643
C22H29FO5
CCRIS 7067
CHEBI:41879
CHEMBL384467
CID5743
CPD-10549
CPD001227192
Calonat
Corson
Corsone
Cortisumman
D00292
D003907
D1756_SIGMA
D4902_SIGMA
D6645_SIGMA
D8893_SIGMA
D9184_SIGMA
DB01234
DEX
DEXA
DEXONE 0.5
DEXONE 0.75
DEXONE 1.5
DEXONE 4
DXM
DXMS
Decacort
Decacortin
Decaderm
Decadron
Decadron (TN)
Decadron Tablets, Elixir
Decadron, Dexamethasone
Decadron-LA
Decadron-La
Decagel
Decaject
Decaject L.A.
Decaject-L.A.
Decalix
Decameth
Decasone
Decaspray
Dectancyl
Dekacort
Delta1-9alpha-Fluoro-16alpha-methylcortisol
Deltafluorene
Dergramin
Deronil
Desadrene
Desametasone
Desametasone [DCIT]
Desametasone [Dcit]
Desamethasone
Desameton
Deseronil
Dex-Ide
Dex-ide
Dexa
Dexa Mamallet
Dexa mamallet
Dexa-Cortidelt
Dexa-Cortisyl
Dexa-Mamallet
Dexa-Scheroson
Dexa-Sine
Dexa-cortidelt
Dexa-cortisyl
Dexa-scheroson
Dexa-sine
Dexacen-4
Dexacidin
Dexacort
Dexacortal
Dexacortin
Dexadeltone
Dexafarma
Dexair
Dexalona
Dexaltin
Dexametasona
Dexametasona [INN-Spanish]
Dexametasone
 
Dexameth
Dexamethansone
Dexamethasone
Dexamethasone (JP15/USP/INN)
Dexamethasone Acetate
Dexamethasone Alcohol
Dexamethasone Base
Dexamethasone Intensol
Dexamethasone Sodium Phosphate
Dexamethasone [INN:BAN:JAN]
Dexamethasone alcohol
Dexamethasone base
Dexamethasone intensol
Dexamethasone-omega
Dexamethasonum
Dexamethasonum [INN-Latin]
Dexamethazone
Dexamonozon
Dexapolcort
Dexapos
Dexaprol
Dexason
Dexasone
Dexasone 0.5mg
Dexasone 0.75mg
Dexasone 4mg
Dexasporin
Dexinolon
Dexinoral
Dexone
Dexone 0.5
Dexone 0.75
Dexone 1.5
Dexone 4
Dexonium
Dexpak
Dextelan
Dezone
Dinormon
Dxms
ECR Brand of Dexamethasone
EINECS 200-003-9
FT-0080377
Fluormethylprednisolone
Fluormone
Fluorocort
Fortecortin
Foy Brand of Dexamethasone
Gammacorten
HL-dex
HMS1792A17
HMS1990A17
HMS2089N13
HSDB 3053
Hexadecadrol
Hexadrol
Hexadrol Elixir
Hexadrol Tablets
Hexadrol elixir
Hl-Dex
Hl-dex
I06-1196
ICN Brand of Dexamethasone
IontoDex
Isopto-Dex
Isopto-dex
LS-7300
Lokalison F
Lokalison f
Loverine
Luxazone
MK 125
MLS001055412
MLS001332507
MLS001332508
Maxidex
Maxidex Ont 0.1%
Maxidex Sus 0.1%
Maxitrol
Mediamethasone
Merck Brand of Dexamethasone
Merz Brand 1 of Dexamethasone
Merz Brand 2 of Dexamethasone
Methylfluorprednisolone
Mexidex
Millicorten
MolMap_000018
MolPort-003-846-433
Mymethasone
NCGC00091019-01
NCGC00091019-02
NCGC00091019-03
NCGC00091019-04
NCGC00091019-05
NCI60_003067
NSC 34521
NSC34521
Naquasone (veterinary)
Neomycin and polymyxin b sulfates and dexamethasone
Neomycin and polymyxin b sulphates and dexamethasone
OTO-104
Ocu-Trol
Ocu-trol
Oradexon
PHL-dexamethasone
PMS-dexamethasone
Pet Derm III
Pet Derm Iii
Pet derm III
Pet-Derm Iii
Pms Dexamethasone Elixir 0.5mg/5ml
Policort
Posurdex
Prednisolon F
Prednisolon f
Prednisolone F
Prednisolone f
Prodex
S1322_Selleck
SAM002548948
SGCUT00126
SK-Dexamethasone
SK-dexamethasone
SMP1_000092
SMR000857119
SMR001227192
ST50307091
Sandoz dexamethasone
Sk-Dexamethasone
Spectrum5_002019
Spoloven
Sunia Sol D
Sunia sol D
Superprednol
TL8003317
Tobradex
Tobramycin and dexamethasone
Tresaderm (veterinary)
Turbinaire
UNII-7S5I7G3JQL
Visumetazone
WLN: L E5 B666 OV KU MUTJ A1 BF CQ E1 FV1Q FQ G1
ZINC03875332
alpha -Fluoro-16-alpha -methylcortisol
delta(Sup 1)-9-alpha-Fluoro-16-alpha-methylcortisol
delta(sup 1)-9-alpha-Fluoro-16-alpha-methylcortisol
delta1-9alpha-Fluoro-16alpha-methylcortisol
dexamethasone
nchembio809-comp2
to_000038
28
Riluzoleapproved, investigationalPhase 2, Phase 3651744-22-55070
Synonyms:
1744-22-5
2-Amino-6-(trifluoromethoxy)-benzothiazole
2-Amino-6-(trifluoromethoxy)benzothiazole
2-Amino-6-trifluoro- methoxybenzothiazole
2-amino-6-(trifluoromethoxy)-1,3-benzothiazole
2-amino-6-(trifluoromethoxy)benzo[d]thiazole
2-amino-6-(trifluoromethoxyl)benzothiazole
2-amino-6-trifluoromethoxybenzothiazole
6-(trifluoromethoxy)-1,3-benzothiazol-2-amine
6-(trifluoromethoxy)benzo[d]thiazol-2-amine
6-Trifluoromethoxy-benzothiazol-2-ylamine
6-trifluoromethoxybenzothiazole-2-yl-amine
AC-730
AC1L1JJL
AC1Q530H
AKOS000265071
ALBB-006046
Amino-2 trifluoromethoxy-6 benzothiazole
Amino-2 trifluoromethoxy-6 benzothiazole [French]
BB_SC-4839
BF-37
BIDD:GT0055
BPBio1_000037
BPBio1_000837
BRD-K21283037-001-02-5
BRD-K21283037-003-03-9
BSPBio_000033
Bio1_000416
Bio1_000905
Bio1_001394
Biomol-NT_000245
C07937
C8H5F3N2OS
CHEMBL744
CID5070
D00775
DB00740
EU-0101064
FT-0082997
HMS1773G08
HMS2089O19
HMS2094G07
I01-2084
LS-40688
 
Lopac-R-116
Lopac0_001064
MLS000069369
MolPort-000-151-262
NCGC00015882-01
NCGC00015882-02
NCGC00015882-03
NCGC00015882-07
NCGC00015882-11
NCGC00023141-02
NCGC00023141-04
NCGC00023141-05
NCGC00023141-06
PK-26124
PK-26124, RP-54274, Rilutek, Riluzole
Prestwick-03A08
Prestwick0_000167
Prestwick1_000167
Prestwick2_000167
Prestwick3_000167
R-116
R116_SIGMA
RP 54274
RP-54274
Rilutek
Rilutek (TN)
Riluzol
Riluzol [INN-Spanish]
Riluzole
Riluzole (JAN/USAN/INN)
Riluzole HCl
Riluzole [USAN:INN]
Riluzolum
Riluzolum [INN-Latin]
S1614_Selleck
SMR000058231
SPBio_000599
SPBio_001954
STK503686
Spectrum2_000550
Tocris-0768
UNII-7LJ087RS6F
ZERO/001785
ZINC00006481
riluzole
29
Pioglitazoneapproved, investigationalPhase 3441111025-46-84829
Synonyms:
(+-)-5-((4-(2-(5-Ethyl-2-pyridinyl)ethoxy)phenyl)methyl)-2,4-thiazolidinedione
(+-)-5-((4-(2-(5-ethyl-2-pyridinyl)ethoxy)phenyl)methyl)-2,4-thiazolidinedione
(+/-)-5-[[4-[2-(5-Ethyl-2-pyridinyl)-ethoxy]phenyl]methyl]-2,4-thiazolidinedione
(+/-)-5-[p-[2-(ethyl-2-pyridyl)ethoxy]benzyl]-2,4-thiazolidinedione
105355-27-9
111025-46-8
198077-89-3
2,4-Thiazolidinedione, 5-[[4-[2-(5-ethyl-2-pyridinyl)ethoxy]phenyl]methyl]- (9CI)
5-((4-(2-(5-Ethyl-2-pyridinyl)ethoxy)phenyl)methyl)-2,4-thiazolidinedione
5-(4-(2-(5-ethyl-2-pyridyl)ethoxy)benzyl)-2,4-thiazolidinedione
5-[4-[2-(5-Ethyl-2-pyridyl)ethoxy]benzyl]thiazolidine-2,4-dione
5-[[4-[2-(5-Ethyl-2-pyridinyl)ethoxy]phenyl]methyl]-2,4-thiazolidinedione
5-[[4-[2-(5-ethylpyridin-2-yl)ethoxy]phenyl]methyl]-1,3-thiazolidine-2,4-dione
5-[[4-[2-(5-ethylpyridin-2-yl)ethoxy]phenyl]methyl]thiazolidine-2,4-dione
5-[[4-[2-[(5-ethyl-2-pyridyl)]ethoxy]phenyl]methyl]thiazolidine- 2,4-dione
5-{4-[2-(5-ethylpyridin-2-yl)ethoxy]benzyl}-1,3-thiazolidine-2,4-dione
AB1004597
AC-1021
AC1L1J1Q
AD 4833
AD-4833
Actos
Actos (TN)
Actost
BRD-A48430263-003-02-4
BSPBio_002723
C07675
C19H20N2O3S
CHEBI:8228
CHEMBL595
CID4829
D08378
DB01132
Duetact
Glustin
HMS2089H14
HS-0047
 
HSDB 7322
I06-0089
KBio2_002103
KBio2_004671
KBio2_007239
KBio3_001943
KBioGR_001619
KBioSS_002103
LS-151327
MolPort-002-508-211
NCGC00163128-01
NCGC00163128-02
Pioglitazona
Pioglitazona [INN-Spanish]
Pioglitazone
Pioglitazone HCl
Pioglitazone Hydrochloride
Pioglitazone [BAN:INN]
Pioglitazone [Ban:Inn]
Pioglitazone [INN:BAN]
Pioglitazonum
Pioglitazonum [INN-Latin]
SPBio_001897
Spectrum2_001679
Spectrum3_001002
Spectrum4_001130
Spectrum5_001480
Spectrum5_002067
Spectrum_001623
U 72107
U 72107A
U-72107
U72,107A
UNII-X4OV71U42S
Zactos
nchembio790-comp10
pioglitazone (INN)
pioglitazone HCl
30
Vareniclineapproved, investigationalPhase 2, Phase 3273249296-44-45310966
Synonyms:
249296-44-4
7,8,9,10-Tetrahydro-6,10-methano-6H-pyrazino(2,3-h)(3)benzazepine
7,8,9,10-tetrahydro-6h-6,10-methanoazepino[4,5-g]quinoxaline
AC1L55H0
AC1Q4W6H
AKOS005145561
AR-1H2911
CHEBI:430452
CHEMBL1396
CID170361
CP 526555
 
CP-526,555
Champix
Chantix
D08669
HSDB 7591
I14-1963
LS-187375
UNII-W6HS99O8ZO
Varenicline
Varenicline (INN)
Varenicline tartrate
varenicline
31Heptavalent Pneumococcal Conjugate VaccinePhase 3465
32VaccinesPhase 36611
33interferonsPhase 32175
34Anti-Inflammatory AgentsPhase 310729
35AntiemeticsPhase 34022
36Hypoglycemic AgentsPhase 35896
37Pharmaceutical SolutionsPhase 3, Phase 2, Phase 18192
38Cholinergic AgentsPhase 2, Phase 33992
39Nicotinic AgonistsPhase 2, Phase 3945
40Interferon-gammaPhase 3152
41glucocorticoidsPhase 35103
42Gastrointestinal AgentsPhase 38402
43BB 1101Phase 32171
44Dexamethasone 21-phosphatePhase 32171
45Dexamethasone acetatePhase 321711177-87-3
46Antineoplastic Agents, HormonalPhase 35592
47Neuroprotective AgentsPhase 2, Phase 31716
48Tranquilizing AgentsPhase 2, Phase 3, Phase 14265
49Antiviral AgentsPhase 39967
50Thyrotropin-Releasing HormonePhase 314

Interventional clinical trials:

(show top 50)    (show all 62)
idNameStatusNCT IDPhase
1Status of Growth Hormone/ Insulin-like Growth Factor-1 (GH/IGF-1) Axis and Growth Failure in Ataxia Telangiectasia (AT)Unknown statusNCT01052623Phase 4
2Safety and Efficacy of Lithium Carbonate in Patients With Spinocerebellar Ataxia Type 3CompletedNCT01096082Phase 2, Phase 3
3A Long-Term Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD)CompletedNCT01970124Phase 3
4A 24-week Open-label Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD)CompletedNCT01970137Phase 3
5An Extension Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD)CompletedNCT01970111Phase 3
6A Confirmatory Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD)CompletedNCT01970098Phase 3
7Efficacy of Riluzole in Hereditary Cerebellar AtaxiaCompletedNCT01104649Phase 2, Phase 3
8Patient Reported Outcomes in Friedreich's Ataxia Patients After Withdrawal From Treatment With Idebenone (PROTI)CompletedNCT01303406Phase 3
9Safety, Tolerability and Efficacy of ACTIMMUNE Dose Escalation in Friedreich's Ataxia StudyCompletedNCT02593773Phase 3
10Safety, Tolerability and Efficacy of ACTIMMUNE® Dose Escalation in Friedreich's AtaxiaCompletedNCT02415127Phase 3
11Study to Assess the Efficacy, Safety and Tolerability of Idebenone in the Treatment of Friedreich's AtaxiaCompletedNCT00537680Phase 3
12A Study of Efficacy, Safety and Tolerability of Idebenone in the Treatment of Friedreich's Ataxia (FRDA) PatientsCompletedNCT00905268Phase 3
13Conjugate Pneumococcal Vaccine in Ataxia Telangiectasia (AT)CompletedNCT00656409Phase 3
14Study to Assess the Safety and Tolerability of Idebenone in the Treatment of Friedreich's Ataxia PatientsCompletedNCT00697073Phase 3
15Effect of Pioglitazone Administered to Patients With Friedreich's Ataxia: Proof of ConceptCompletedNCT00811681Phase 3
16Long-Term Safety and Tolerability of Idebenone in Friedreich's Ataxia Patients (MICONOS Extension)CompletedNCT00993967Phase 3
17STEADFAST Long-Term Safety ExtensionCompletedNCT02797080Phase 3
18Trial in Adult Subjects With Spinocerebellar AtaxiaRecruitingNCT02960893Phase 2, Phase 3
19An Additional Confirmatory Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD)RecruitingNCT02889302Phase 3
20EDS in Ataxia Telangiectasia PatientsRecruitingNCT02770807Phase 3
21Pilot Study of Varenicline (Chantix®) in the Treatment of Friedreich's AtaxiaTerminatedNCT00803868Phase 2, Phase 3
22The Influence of Deep TMS on Cerebellar Signs in Patients With Machado Joseph DiseaseUnknown statusNCT02039206Phase 2
23A New Method to Treat Hereditary Cerebellar Ataxia - Umbilical Cord Mesenchymal Stem Cells TransplantationUnknown statusNCT01489267Phase 2
24Study To Assess Safety, Tolerability and Efficacy of Intravenous Cabaletta in Patients With Machado-Joseph DiseaseCompletedNCT02147886Phase 2
25Study to Determine the Safety and Tolerability of Varenicline (Chantix®) in Treating Spinocerebellar Ataxia Type 3CompletedNCT00992771Phase 2
26High-Dose Intravenous Immunoglobulin to Treat Cerebellar DegenerationCompletedNCT00034242Phase 2
27Idebenone to Treat Friedreich's AtaxiaCompletedNCT00229632Phase 2
28Efficacy of Epoetin Alfa in Patients With Friedreich's AtaxiaCompletedNCT00631202Phase 2
29Safety and Efficacy Study of A0001 in Subjects With Friedreich's AtaxiaCompletedNCT01035671Phase 2
30EPI-743 in Friedreich's Ataxia Point MutationsCompletedNCT01962363Phase 2
31Safety Study of Carbamylated Erythropoietin to Treat Patients With the Neurodegenerative Disorder Friedreich's AtaxiaCompletedNCT01016366Phase 2
32Effect of Nicotinamide in Friedreich's AtaxiaActive, not recruitingNCT01589809Phase 2
33Pilot Study of Safety and Efficacy of Sodium Phenylbutyrate in Spinocerebellar Ataxia Type 3WithdrawnNCT01096095Phase 2
34Lithium Treatment for Patients With Spinocerebellar Ataxia Type ICompletedNCT00683943Phase 1
35Safety and Pharmacology Study of VP 20629 in Adults With Friedreich's AtaxiaCompletedNCT01898884Phase 1
36Safety Study of Idebenone to Treat Friedreich's AtaxiaCompletedNCT00015808Phase 1
37Phase 1 Trial of Idebenone to Treat Patients With Friedreich's AtaxiaCompletedNCT00078481Phase 1
38An Open-label Trial of Intravenous Immune Globulin (IVIG)in Treating Spinocerebellar AtaxiasRecruitingNCT02287064Phase 1
39RISCA : Prospective Study of Individuals at Risk for SCA1, SCA2, SCA3, SCA6, SCA7Unknown statusNCT01037777
40The EUROSCA Natural History StudyUnknown statusNCT02440763
41Susceptibility to Infections in Ataxia TelangiectasiaUnknown statusNCT02345135
42Immunogenicity of Pneumococcal Vaccines in Ataxia-telangiectasia PatientsUnknown statusNCT01075438
43Baclofen Treatment of Ataxia TelangiectasiaUnknown statusNCT00640003Early Phase 1
44Weight in Lower Limbs Improves Gait Ataxia of in Machado-Joseph Disease PatientsCompletedNCT02906046
45Parkinsonism in Spinocerebellar Ataxia Type 6CompletedNCT01934998
46Dalfampridine and Gait in Spinocerebellar AtaxiasCompletedNCT01811706
47Measuring Neurological Impairment and Functional Visual Assessment In Spinocerebellar AtaxiasCompletedNCT00654251
48Biomarkers in Autosomal Dominant Cerebellar AtaxiaCompletedNCT01470729
49Transcranial Magnetic Stimulation in Spino-Cerebellar AtaxiaCompletedNCT01975909
50The Effect of Whole Body Vibration Training on Neuromuscular Property in Individuals With AtaxiaCompletedNCT01983631

Search NIH Clinical Center for Machado-Joseph Disease


Cochrane evidence based reviews: machado-joseph disease

Genetic Tests for Machado-Joseph Disease

About this section

Genetic tests related to Machado-Joseph Disease:

id Genetic test Affiliating Genes
1 Azorean Disease27
2 Spinocerebellar Ataxia Type 324 ATXN3

Anatomical Context for Machado-Joseph Disease

About this section

MalaCards organs/tissues related to Machado-Joseph Disease:

36
Eye, Tongue, Cerebellum, Spinal cord, Brain, Testes, Globus pallidus

Publications for Machado-Joseph Disease

About this section

Articles related to Machado-Joseph Disease:

(show top 50)    (show all 365)
idTitleAuthorsYear
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

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Clinvar genetic disease variations for Machado-Joseph Disease:

5
id Gene Variation Type Significance SNP ID Assembly Location
1ATXN3NM_ 004993.5(ATXN3)NT expansionPathogenicGRCh37Chr 14, 92537382: 92537384
2ATXN3NM_ 004993.5(ATXN3): c.892_ 894CAG(8_ 36) (p.Gln298_ Gln305=)NT expansionPathogenic, risk factorrs193922928GRCh37Chr 14, 92537355: 92537357

Expression for genes affiliated with Machado-Joseph Disease

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

Pathways for genes affiliated with Machado-Joseph Disease

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GO Terms for genes affiliated with Machado-Joseph Disease

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

idNameGO IDScoreTop Affiliating Genes
1nuclear inclusion bodyGO:00424059.7ATXN1, ATXN3, ATXN3L
2nuclear matrixGO:00163638.6ATN1, ATXN1, ATXN3, ATXN7
3cytoplasmGO:00057376.3ATN1, ATXN1, ATXN2, ATXN3, ATXN7, CACNA1A

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1cellular response to misfolded proteinGO:007121810.6ATXN3, ATXN3L
2misfolded or incompletely synthesized protein catabolic processGO:000651510.6ATXN3, ATXN3L
3monoubiquitinated protein deubiquitinationGO:003552010.6ATXN3, ATXN3L
4regulation of cell-substrate adhesionGO:001081010.4ATXN3, ATXN3L
5exploration behaviorGO:003564010.3ATXN3L, HTR1A
6dopamine biosynthetic processGO:004241610.3SLC6A3, SNCA
7dopamine uptake involved in synaptic transmissionGO:005158310.3SLC6A3, SNCA
8error-free translesion synthesisGO:007098710.2RPS27A, VCP
9regulation of dopamine metabolic processGO:004205310.0HTR1A, SLC6A3
10proteasome-mediated ubiquitin-dependent protein catabolic processGO:00431619.6ATXN3, ATXN3L, RPS27A, VCP
11translesion synthesisGO:00199859.5RPS27A, VCP
12protein deubiquitinationGO:00165799.2ATXN3, ATXN3L, ATXN7, RPS27A, VCP

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

idNameGO IDScoreTop Affiliating Genes
1thiol-dependent ubiquitinyl hydrolase activityGO:00364599.7ATXN3, ATXN3L, ATXN7
2identical protein bindingGO:00428029.0ATXN1, ATXN3, HSPB1, SNCA, VCP
3protein bindingGO:00055155.8ATN1, ATXN1, ATXN2, ATXN3, ATXN7, CACNA1A

Sources for Machado-Joseph Disease

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet