MCID: MCH002
MIFTS: 63

Machado-Joseph Disease malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Machado-Joseph Disease

About this section

Aliases & Descriptions for Machado-Joseph Disease:

Name: Machado-Joseph Disease 49 10 11 68 21 22 23 46 47 12 51 67 36 65
Mjd 10 21 45 22 23 51 67
Spinocerebellar Ataxia Type 3 10 68 21 22 23 51
Sca3 21 45 22 23 51 67
Spinocerebellar Ataxia 3 10 45 67
Azorean Disease 10 23 24
Azorean Ataxia 21 22 23
Nigrospinodentatal Degeneration 45 67
Azorean Neurologic Disease 45 67
Spinopontine Atrophy 45 65
 
Nigro-Spino-Dentatal Degeneration with Nuclear Ophthalmoplegia 51
Autosomal Dominant Striatonigral Degeneration 51
Azorean Disease of the Nervous System 51
Spinocerebellar Atrophy Type 3 45
Spinocerebellar Atrophy 67
Ataxia, Spinocerebellar 65
Machado Joseph Disease 45
Machado Disease 51
Sca 3 22

Characteristics:

Orphanet epidemiological data:

51
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:

61
machado-joseph disease:
Inheritance: genetic anticipation, autosomal dominant inheritance
Onset and clinical course: progressive


Classifications:



External Ids:

OMIM49 109150
Disease Ontology10 DOID:1440
NCIt42 C84830
SNOMED-CT59 91952008
Orphanet51 98757
ICD10 via Orphanet28 G11.8
MedGen34 C0024408
UMLS65 C0024408, C0520719

Summaries for Machado-Joseph Disease

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NIH Rare Diseases:45 Spinocerebellar ataxia 3 is a rare movement disorder that is characterized by ataxia, clumsiness and weakness in the arms and legs, spasticity, a staggering lurching walk easily mistaken for drunkenness, difficulty with speech and swallowing, and involuntary eye movements sometimes accompanied by double vision, and bulging eyes. some patients have dystonia or symptoms similar to those of parkinson's disease. others have twitching of the face or tongue, neuropathy, or problems with urination and the autonomic nervous system. symptoms can begin any time between childhood and about 70 years of age. spinocerebellar ataxia 3 is a progressive disease, meaning that symptoms get worse with time. life expectancy ranges from the mid-thirties for those with severe forms of the disorder to a normal life expectancy for those with mild forms. spinocerebellar ataxia is inherited in an autosomal dominant pattern and is caused by a trinucleotide repeat expansion in the ataxin-3 gene (atxn3). last updated: 10/23/2014

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 spasticity, ataxia and external ophthalmoplegia. An important gene associated with Machado-Joseph Disease is ATXN3 (Ataxin 3), and among its related pathways are Parkinsons Disease Pathway and Proteolysis_Putative ubiquitin pathway. Affiliated tissues include eye, tongue and spinal cord, and related mouse phenotypes are skeleton and homeostasis/metabolism.

Disease Ontology:10 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:23 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:49 Machado-Joseph disease, named for affected families of Azorean extraction, is an autosomal dominant progressive... (109150) more...

NINDS:46 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.

UniProtKB/Swiss-Prot:67 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:68 Machado–Joseph disease (MJD), also known as Machado–Joseph Azorean disease or Joseph\'s disease or... more...

GeneReviews summary 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 79)
idRelated DiseaseScoreTop Affiliating Genes
1machado-joseph disease type 112.3
2machado-joseph disease type 312.3
3machado-joseph disease type 212.3
4spinocerebellar ataxia x-linked type 311.1
5ataxia11.0
6spinocerebellar ataxia 210.8
7olivopontocerebellar atrophy10.8
8hypocalciuric hypercalcemia, type ii10.5ATXN3, ATXN7
9mednik syndrome10.5ATXN3, ATXN7
10neuronitis10.5
11spasticity10.5
12cerebellar ataxia10.4
13dystonia10.4
14neuropathy10.4
15uterine corpus adenomatoid tumor10.4HTR1A, SLC6A3
16autonomic dysfunction10.4
17multiple system atrophy10.3
18arrhythmogenic right ventricular cardiomyopathy10.3ATXN3, SLC6A3
19spinocerebellar ataxia 110.3
20hyperalphalipoproteinemia10.3ATXN3, ATXN7
21striatonigral degeneration10.3
22hereditary spastic paraplegia10.2
23peripheral neuropathy10.2
24dementia10.2
25polyneuropathy10.2
26cerebritis10.2
27sleep disorder10.2
28paraplegia10.2
29muscular atrophy10.2
30rem sleep behavior disorder10.2
31dysphagia10.2
32myoclonus10.2
33hypochondriasis10.2ATXN3, HTT
34spinocerebellar ataxia 710.1ATXN2, ATXN7
35parasitic protozoa infectious disease10.1ATXN2, ATXN3, ATXN7
36huntington disease10.1
37hereditary ataxia10.1
38motor neuron disease10.1
39restless legs syndrome10.1
40azoospermia10.1
41autosomal dominant cerebellar ataxia10.1
42vaginitis10.1
43cervicitis10.1
44complex regional pain syndrome10.1
45retinitis10.1
46strabismus10.1
47retinal degeneration10.1
48myotonic dystrophy10.1
49cerebellar degeneration10.1
50cerebello-olivary atrophy10.1

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



Diseases related to machado-joseph disease

Symptoms for Machado-Joseph Disease

About this section

Symptoms by clinical synopsis from OMIM:

109150

Clinical features from OMIM:

109150

HPO human phenotypes related to Machado-Joseph Disease:

(show all 35)
id Description Frequency HPO Source Accession
1 spasticity 62% HP:0001257
2 ataxia 57% HP:0001251
3 external ophthalmoplegia 34% HP:0000544
4 dysarthria 30% HP:0001260
5 dystonia 17% HP:0001332
6 gaze-evoked nystagmus 15% HP:0000640
7 fasciculations 12% HP:0002380
8 parkinsonism 3% HP:0001300
9 chronic pain HP:0012532
10 facial-lingual fasciculations HP:0007089
11 distal amyotrophy HP:0003693
12 babinski sign HP:0003487
13 absent achilles reflex HP:0003438
14 muscle cramps HP:0003394
15 urinary bladder sphincter dysfunction HP:0002839
16 spinocerebellar tract degeneration HP:0002503
17 impaired vibratory sensation HP:0002495
18 dysautonomia HP:0002459
19 dilated fourth ventricle HP:0002198
20 postural instability HP:0002172
21 gliosis HP:0002171
22 truncal ataxia HP:0002078
23 progressive cerebellar ataxia HP:0002073
24 limb ataxia HP:0002070
25 bradykinesia HP:0002067
26 rigidity HP:0002063
27 dysphagia HP:0002015
28 cerebellar atrophy HP:0001272
29 impaired horizontal smooth pursuit HP:0001151
30 dementia HP:0000726
31 diplopia HP:0000651
32 dysmetric saccades HP:0000641
33 supranuclear ophthalmoplegia HP:0000623
34 proptosis HP:0000520
35 ptosis HP:0000508

UMLS symptoms related to Machado-Joseph Disease:


gait deviation, trendelenburg's symptom, equilibration disorder, loss of control of walking, abnormal coordination, difficulty standing, cerebellar ataxia, ataxia, ataxia, truncal, extrapyramidal sign, pyramidal sign, bradykinesia, chronic pain, muscle spasticity, muscle rigidity, muscle cramp, muscular fasciculation

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 130)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Estradiolapproved, investigationalPhase 4109450-28-25757, 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
Depo-estradiol
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 Transdermal System
Estradiol Valerate
Estradiol [USAN:INN]
Estradiol acetate
Estradiol benzoate
Estradiol cypionate
Estradiol valerate
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
Femring
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
Minivelle
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)
Vivelle Dot
Vivelle-dot
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 41894205-90-72803
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
Clonidine (JAN/USAN/INN)
Clonidine HCl
Clonidine Hydrochloride
Clonidine Transdermal System
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
Kapvay
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
Nexiclon
Nexiclon Xr
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
3Neurotransmitter AgentsPhase 4, Phase 2, Phase 314795
4HormonesPhase 4, Phase 311748
5Antihypertensive AgentsPhase 4, Phase 23618
6Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 4, Phase 39988
7Hormone AntagonistsPhase 4, Phase 310002
8insulinPhase 44278
9Insulin, Globin ZincPhase 44278
10Adrenergic AgentsPhase 44204
11Polyestradiol phosphatePhase 41095
12Peripheral Nervous System AgentsPhase 4, Phase 318510
13EstrogensPhase 42144
14MitogensPhase 41386
15Adrenergic alpha-AgonistsPhase 41300
16Estradiol valeratePhase 41094979-32-8
17Adrenergic AgonistsPhase 42331
18AnalgesicsPhase 49358
19Adrenergic alpha-2 Receptor AgonistsPhase 4790
20Estradiol 3-benzoatePhase 41094
21Estradiol 17 beta-cypionatePhase 41094
22Contraceptive AgentsPhase 41706
23arginineNutraceuticalPhase 4364
24
Riluzoleapproved, investigationalPhase 2, Phase 3591744-22-55070
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 Hydrochloride
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
25
Dexamethasoneapproved, investigationalPhase 3190950-02-25743
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
Baycadron
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 acetate
Dexamethasone alcohol
Dexamethasone base
Dexamethasone intensol
Dexamethasone sodium phosphate
Dexamethasone-omega
Dexamethasonum
Dexamethasonum [INN-Latin]
Dexamethazone
Dexamethsone
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
Ozurdex
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
26
Vareniclineapproved, investigationalPhase 2, Phase 3255249296-44-45310966
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
27
Pioglitazoneapproved, investigationalPhase 3419111025-46-84829
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
28
GlycerolexperimentalPhase 319156-81-5753
Synonyms:
1,2,3-Trihydroxypropane
Bulbold
Cristal
E 422
Emery 916
Glyceol Opthalgan
Glycerin
Glycerine
Glyceritol
Glycerol
 
Glycyl alcohol
Glyrol
Glysanin
IFP
Incorporation factor
Mackstat H 66
Osmoglyn
Pricerine 9091
Propanetriol
RG-S
Trihydroxypropane
Tryhydroxypropane
29Trace ElementsPhase 3, Phase 23900
30MicronutrientsPhase 3, Phase 23901
31Nicotinic AgonistsPhase 2, Phase 3701
32Hypoglycemic AgentsPhase 34503
33BB 1101Phase 31909
34Dexamethasone acetatePhase 319091177-87-3
35VaccinesPhase 36085
36Dexamethasone 21-phosphatePhase 31909
37Pharmaceutical SolutionsPhase 3, Phase 2, Phase 17004
38VitaminsPhase 3, Phase 23857
39Cholinergic AgentsPhase 2, Phase 33243
40UbiquinonePhase 3, Phase 292
41Excitatory Amino Acid AntagonistsPhase 2, Phase 31095
42Thyrotropin-Releasing HormonePhase 314
43AnticonvulsantsPhase 2, Phase 32249
44Immunologic FactorsPhase 3, Phase 2, Phase 118483
45Central Nervous System DepressantsPhase 2, Phase 3, Phase 110016
46Psychotropic DrugsPhase 2, Phase 3, Phase 15501
47Lithium CarbonatePhase 2, Phase 3, Phase 1211
48Excitatory Amino AcidsPhase 2, Phase 31109
49Neuroprotective AgentsPhase 2, Phase 31376
50idebenonePhase 3, Phase 2, Phase 119

Interventional clinical trials:

(show top 50)    (show all 56)
idNameStatusNCT IDPhase
1Status of Growth Hormone/ Insulin-like Growth Factor-1 (GH/IGF-1) Axis and Growth Failure in Ataxia Telangiectasia (AT)RecruitingNCT01052623Phase 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
4An Extension Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD)CompletedNCT01970111Phase 3
5A Confirmatory Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD)CompletedNCT01970098Phase 3
6A 24-week Open-label Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD)CompletedNCT01970137Phase 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
9Study to Assess the Efficacy, Safety and Tolerability of Idebenone in the Treatment of Friedreich's AtaxiaCompletedNCT00537680Phase 3
10A Study of Efficacy, Safety and Tolerability of Idebenone in the Treatment of Friedreich's Ataxia (FRDA) PatientsCompletedNCT00905268Phase 3
11Conjugate Pneumococcal Vaccine in Ataxia Telangiectasia (AT)CompletedNCT00656409Phase 3
12Study to Assess the Safety and Tolerability of Idebenone in the Treatment of Friedreich's Ataxia PatientsCompletedNCT00697073Phase 3
13Effect of Pioglitazone Administered to Patients With Friedreich's Ataxia: Proof of ConceptCompletedNCT00811681Phase 3
14Long-Term Safety and Tolerability of Idebenone in Friedreich's Ataxia Patients (MICONOS Extension)CompletedNCT00993967Phase 3
15Evolution of Albumin on AOA1 Patients Supplemented With Coenzyme Q10Active, not recruitingNCT02333305Phase 3
16Safety, Tolerability and Efficacy of ACTIMMUNE Dose Escalation in Friedreich's AtaxiaActive, not recruitingNCT02415127Phase 3
17Safety, Tolerability and Efficacy of ACTIMMUNE Dose Escalation in Friedreich's Ataxia StudyEnrolling by invitationNCT02593773Phase 3
18EDS in Ataxia Telangiectasia PatientsNot yet recruitingNCT02770807Phase 3
19Pilot Study of Varenicline (Chantix®) in the Treatment of Friedreich's AtaxiaTerminatedNCT00803868Phase 2, Phase 3
20Study to Determine the Safety and Tolerability of Varenicline (Chantix®) in Treating Spinocerebellar Ataxia Type 3CompletedNCT00992771Phase 2
21High-Dose Intravenous Immunoglobulin to Treat Cerebellar DegenerationCompletedNCT00034242Phase 2
22Idebenone to Treat Friedreich's AtaxiaCompletedNCT00229632Phase 2
23Efficacy of Epoetin Alfa in Patients With Friedreich's AtaxiaCompletedNCT00631202Phase 2
24Safety Study of Carbamylated Erythropoietin to Treat Patients With the Neurodegenerative Disorder Friedreich's AtaxiaCompletedNCT01016366Phase 2
25Safety and Efficacy Study of A0001 in Subjects With Friedreich's AtaxiaCompletedNCT01035671Phase 2
26The Influence of Deep TMS on Cerebellar Signs in Patients With Machado Joseph DiseaseRecruitingNCT02039206Phase 2
27Study To Assess Safety, Tolerability and Efficacy of Intravenous Cabaletta in Patients With Machado-Joseph DiseaseRecruitingNCT02147886Phase 2
28Effect of Nicotinamide in Friedreich's AtaxiaActive, not recruitingNCT01589809Phase 2
29EPI-743 in Friedreich's Ataxia Point MutationsActive, not recruitingNCT01962363Phase 2
30A New Method to Treat Hereditary Cerebellar Ataxia - Umbilical Cord Mesenchymal Stem Cells TransplantationEnrolling by invitationNCT01489267Phase 2
31Pilot Study of Safety and Efficacy of Sodium Phenylbutyrate in Spinocerebellar Ataxia Type 3WithdrawnNCT01096095Phase 2
32Lithium Treatment for Patients With Spinocerebellar Ataxia Type ICompletedNCT00683943Phase 1
33Safety and Pharmacology Study of VP 20629 in Adults With Friedreich's AtaxiaCompletedNCT01898884Phase 1
34Safety Study of Idebenone to Treat Friedreich's AtaxiaCompletedNCT00015808Phase 1
35Phase 1 Trial of Idebenone to Treat Patients With Friedreich's AtaxiaCompletedNCT00078481Phase 1
36An Open-label Trial of Intravenous Immune Globulin (IVIG)in Treating Spinocerebellar AtaxiasRecruitingNCT02287064Phase 1
37Dalfampridine and Gait in Spinocerebellar AtaxiasCompletedNCT01811706
38Biomarkers in Autosomal Dominant Cerebellar AtaxiaCompletedNCT01470729
39Measuring Neurological Impairment and Functional Visual Assessment In Spinocerebellar AtaxiasCompletedNCT00654251
40Parkinsonism in Spinocerebellar Ataxia Type 6CompletedNCT01934998
41The Effect of Whole Body Vibration Training on Neuromuscular Property in Individuals With AtaxiaCompletedNCT01983631
42Study for Treatment of Cancer in Children With Ataxia-telangiectasiaCompletedNCT00187057
43Machado-Joseph Disease in IsraelRecruitingNCT02175290
44Natural History Study of and Genetic Modifiers in Spinocerebellar AtaxiasRecruitingNCT01060371
45The EUROSCA Natural History StudyRecruitingNCT02440763
46Functional and Structural Imaging and Motor Control in Spinocerebellar AtaxiaRecruitingNCT02488031
47Characterization of the Cardiac Phenotype of Friedreich's Ataxia (FRDA)RecruitingNCT02316314
48RISCA : Prospective Study of Individuals at Risk for SCA1, SCA2, SCA3, SCA6, SCA7Active, not recruitingNCT01037777
49Development of iPS From Donated Somatic Cells of Patients With Neurological DiseasesActive, not recruitingNCT00874783
50Transcranial Magnetic Stimulation in Spino-Cerebellar AtaxiaActive, not recruitingNCT01975909

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 Spinocerebellar Ataxia Type 322 ATXN3

Anatomical Context for Machado-Joseph Disease

About this section

MalaCards organs/tissues related to Machado-Joseph Disease:

33
Eye, Tongue, Spinal cord, Cerebellum, Brain, Breast, Prostate

Animal Models for Machado-Joseph Disease or affiliated genes

About this section

MGI Mouse Phenotypes related to Machado-Joseph Disease:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053907.0AR, ATN1, ATXN1, ATXN7, HTT, SLC6A3
2MP:00053766.6AR, ATN1, ATXN1, ATXN2, ATXN3, HSPB1
3MP:00053866.3AR, ATN1, ATXN1, ATXN2, ATXN3, ATXN7
4MP:00036316.2AR, ATN1, ATXN1, ATXN2, ATXN3, ATXN7
5MP:00107686.2AR, ATN1, ATXN1, ATXN2, ATXN7, HTR1A
6MP:00053786.0AR, ATN1, ATXN1, ATXN2, ATXN7, HSPB1

Publications for Machado-Joseph Disease

About this section

Articles related to Machado-Joseph Disease:

(show top 50)    (show all 356)
idTitleAuthorsYear
1
NREM-related parasomnias in Machado-Joseph disease: clinical and polysomnographic evaluation. (26359123)
2015
2
Cervical and ocular vestibular evoked potentials in Machado-Joseph disease: Functional involvement of otolith pathways. (26365285)
2015
3
Calpain inhibition reduces ataxin-3 cleavage alleviating neuropathology and motor impairments in mouse models of Machado-Joseph disease. (24817574)
2014
4
Spinal Cord Damage in Machado-Joseph Disease. (25370748)
2014
5
Nonmotor and extracerebellar features in Machado-Joseph disease: a review. (23775899)
2013
6
Machado-Joseph disease and other rare spinocerebellar ataxias. (22411243)
2012
7
Normal ATXN3 Allele but Not CHIP Polymorphisms Modulates Age at Onset in Machado-Joseph Disease. (23181052)
2012
8
The Machado-Joseph disease deubiquitylase ATX-3 couples longevity and proteostasis. (21317884)
2011
9
Homozygous Machado Joseph Disease: a case report and review of literature. (20724264)
2010
10
Silencing ataxin-3 mitigates degeneration in a rat model of Machado-Joseph disease: no role for wild-type ataxin-3? (20308049)
2010
11
Involvement of Onuf's nucleus in Machado-Joseph disease: a morphometric and immunohistochemical study. (20503052)
2010
12
Clinical evaluation of oropharyngeal dysphagia in Machado-Joseph disease. (21225141)
2010
13
Motor uncoordination and neuropathology in a transgenic mouse model of Machado-Joseph disease lacking intranuclear inclusions and ataxin-3 cleavage products. (20510362)
2010
14
Spectral analysis of heart rate variability in patients with Machado-Joseph disease. (20060786)
2010
15
Prospective study of peripheral neuropathy in Machado-Joseph disease. (19802879)
2009
16
Machado-Joseph disease presenting as motor neuron disease. (17963092)
2008
17
Functional genomics and biochemical characterization of the C. elegans orthologue of the Machado-Joseph disease protein ataxin-3. (17234717)
2007
18
Depressive symptoms in Machado-Joseph disease (SCA3) patients and their relatives. (17167246)
2007
19
Linear T2 hyperintensity along the medial margin of the globus pallidus in patients with Machado-Joseph disease and Parkinson disease, and in healthy subjects. (17898197)
2007
20
Psychological aspects of pre-symptomatic testing for Machado-Joseph disease and familial amyloid polyneuropathy type I. (16630162)
2006
21
Linear high intensity area along the medial margin of the internal segment of the globus pallidus in Machado-Joseph disease patients. (15774449)
2005
22
Ectoine alters subcellular localization of inclusions and reduces apoptotic cell death induced by the truncated Machado-Joseph disease gene product with an expanded polyglutamine stretch. (16137577)
2005
23
Short-term psychological impact of predictive testing for Machado-Joseph disease: depression and anxiety levels in individuals at risk from the Azores (Portugal). (15692194)
2004
24
Early vestibular dysfunction in Machado-Joseph disease detected by caloric test. (15178224)
2004
25
Muscle cramp in Machado-Joseph disease: altered motor axonal excitability properties and mexiletine treatment. (12615652)
2003
26
Beneficial effects of tandospirone on ataxia of a patient with Machado-Joseph disease. (11952922)
2002
27
Presumed rapid eye movement behavior disorder in Machado-Joseph disease (spinocerebellar ataxia type 3). (12465081)
2002
28
Increased (CTG/CAG)(n) lengths in myotonic dystrophy type 1 and Machado-Joseph disease genes in idiopathic azoospermia patients. (12042281)
2002
29
Machado-Joseph disease with retinal degeneration and dementia. (11903098)
2001
30
A non-radioactive polymerase chain reaction method for diagnosis of Machado-Joseph disease. (10575843)
1999
31
Study of three intragenic polymorphisms in the Machado-Joseph disease gene (MJD1) in relation to genetic instability of the (CAG)n tract. (10196697)
1999
32
Cluster of Machado-Joseph disease in a small rural town near Nagasaki City, Japan: clinical and genetic studies of two families. (10399876)
1999
33
Machado-Joseph disease, spinopontine atrophy, and SCA3. (9109924)
1997
34
CAG repeat length and disease duration in Machado-Joseph disease: a new clinical classification. (9415538)
1997
35
A case of Machado-Joseph disease presenting with spastic paraparesis. (9153623)
1997
36
Studies of the CAG repeat in the Machado-Joseph disease gene in Taiwan. (9254842)
1997
37
Intergenerational instability of the CAG repeat of the gene for Machado-Joseph disease (MJD1) is affected by the genotype of the normal chromosome: implications for the molecular mechanisms of the instability of the CAG repeat. (8817326)
1996
38
Quantitative study of intermediolateral column cell counts in Machado-Joseph disease. (8994118)
1996
39
Severe and prolonged dysphagia complicating botulinum toxin A injections for dystonia in Machado-Joseph disease. (8618703)
1996
40
Dominantly inherited cerebello-olivary atrophy is not due to a mutation at the spinocerebellar ataxia-I, Machado-Joseph disease, or Dentato-Rubro-Pallido-Luysian atrophy locus. (8684388)
1996
41
Linkage disequilibrium analysis in Machado-Joseph disease patients of different ethnic origins. (8882886)
1996
42
Differential pattern in tissue-specific somatic mosaicism of expanded CAG trinucleotide repeats in dentatorubral-pallidoluysian atrophy, Machado-Joseph disease, and X-linked recessive spinal and bulbar muscular atrophy. (8926495)
1996
43
Mapping of the gene for Machado-Joseph disease within a 3.6-cM interval flanked by D14S291/D14S280 and D14S81, on the basis of studies of linkage and linkage disequilibrium in 24 Japanese families. (7825583)
1995
44
Genetic linkage studies of Machado-Joseph disease with chromosome 14q STRPs in 16 Portuguese-Azorean kindreds. (7959745)
1994
45
Machado-Joseph disease: an autosomal dominant motor system degeneration. (1620135)
1992
46
Machado-Joseph disease in New England: clinical description and distinction from the olivopontocerebellar atrophies. (1620136)
1992
47
DNA marker studies show that Machado Joseph disease is not an allele of the Huntington disease locus. (2525613)
1989
48
Machado-Joseph disease: the vestibular presentation. (3487657)
1986
49
Clinical criteria for diagnosis of Machado-Joseph disease: report of a non-Azorena Portuguese family. (7189034)
1980
50

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

idNameGO IDScoreTop Affiliating Genes
1protein deubiquitinationGO:001657910.0ATXN3, ATXN3L
2regulation of mRNA stabilityGO:00434889.7HSPB1, RPS27A
3translesion synthesisGO:00199859.7RPS27A, VCP
4error-free translesion synthesisGO:00709879.5RPS27A, VCP
5nucleotide-excision repairGO:00062899.5ATXN3, RPS27A

Sources for Machado-Joseph Disease

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet