Home
User Guide
What's in a MalaCard Search Guide Our Sources
Analysis Tools
GeneCards GeneAnalytics GeneAlaCart PathCards VarElect TGex
News and Views Disease Lists/Categories
About
About MalaCards Our Publications Academic Licensing Weizmann Institute LifeMap Discovery® Terms of Use MalaCards Team
MCID: ATS308
MIFTS: 54

Autosomal Dominant Cerebellar Ataxia

Categories: Rare diseases, Neuronal diseases
Genes Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Autosomal Dominant Cerebellar Ataxia

About this section

MalaCards integrated aliases for Autosomal Dominant Cerebellar Ataxia:

Name: Autosomal Dominant Cerebellar Ataxia 12 53 15
Spinocerebellar Ataxia 12 76 53 37
Spinocerebellar Ataxias 55 44
Ataxia, Spinocerebellar 40 73
Adca 53
Sca 53

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Neuronal diseases
See all MalaCards categories (disease lists)


Sources

Summaries for Autosomal Dominant Cerebellar Ataxia

About this section
NIH Rare Diseases : 53 Autosomal dominant cerebellar ataxia (ADCA) is one of the genetic subtypes of hereditary ataxia. Although the signs and symptoms vary depending on the specific type, the most common symptom of ADCA is poor movement coordination (ataxia) especially a jerky, unsteady walking style (gait). Coordination of hands and clearness of speech (dysarthria) are also affected.  The area of the brain controlling balance and movement decreases in size (cerebellar atrophy). This can be seen on brain imaging.   The ataxia usually slowly worsens over time.  While the age of onset can vary, the symptoms most commonly begin during adult years. ADCAs include the autosomal dominant spinocerebellar ataxias (SCAs), all of the episodic ataxias (EAs) and the one dominant type of spastic ataxia (SPAX1).   Mutations or changes in many different genes are known to cause many of the different types of ADCA, but more genes are still being discovered. Inheritance is autosomal dominant . Diagnosis of ADCA is based on clinical history, physical examination, genetic testing, and ruling out other diseases. While there is still no cure, treatment options for specific symptoms may be available, depending on the type and severity of symptoms. Management of ACDA may involve several specialists.

MalaCards based summary : Autosomal Dominant Cerebellar Ataxia, also known as spinocerebellar ataxia, is related to spinocerebellar ataxia 7 and spinocerebellar ataxia 2, and has symptoms including ataxia and cerebellar ataxia. An important gene associated with Autosomal Dominant Cerebellar Ataxia is ATXN8OS (ATXN8 Opposite Strand LncRNA
It plays a important role in spinocerebellar ataxia 7 and 8
Dysfunction Pattern: ), and among its related pathways/superpathways are Long-term depression and Ribosome biogenesis in eukaryotes. The drugs Clonidine and Estradiol valerate have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and eye, and related phenotypes are external ophthalmoplegia and nystagmus

Disease Ontology : 12 A hereditary ataxia that has material basis in autosomal dominant inheritance.

Wikipedia : 76 Spinocerebellar ataxia (SCA), also known as spinocerebellar atrophy or spinocerebellar degeneration, is... more...

Sources

Related Diseases for Autosomal Dominant Cerebellar Ataxia

About this section

Diseases in the Autosomal Dominant Cerebellar Ataxia family:

Autosomal Recessive Cerebellar Ataxia Syne1-Related Autosomal Recessive Cerebellar Ataxia

Diseases related to Autosomal Dominant Cerebellar Ataxia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 50)
# Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia 7 34.0 ATXN2 ATXN7 SCAANT1
2 spinocerebellar ataxia 2 33.3 ATXN2 ATXN3 ATXN7 CACNA1A
3 spinocerebellar ataxia 6 33.2 ATXN3 ATXN7 CACNA1A
4 machado-joseph disease 32.8 ATN1 ATXN1 ATXN2 ATXN3 ATXN7 CACNA1A
5 spinocerebellar ataxia 27 32.8 CACNA1A FGF14
6 spinocerebellar ataxia 31 32.8 ATXN3 ATXN7 CACNA1A
7 spinocerebellar ataxia 1 32.6 ATN1 ATXN1 ATXN3 ATXN7 ATXN8OS CACNA1A
8 spinocerebellar ataxia 17 32.5 ATN1 ATXN3 ATXN7 CACNA1A TBP
9 spinocerebellar ataxia 28 32.4 AFG3L2 FGF14 KCNC3 PRKCG
10 spinocerebellar ataxia 18 32.4 ATXN3 ATXN7 CACNA1A SCA18
11 spinocerebellar ataxia 8 32.4 ATXN10 ATXN8OS PPP2R2B
12 spinocerebellar ataxia 12 32.1 ATN1 ATXN1 ATXN2 ATXN3 ATXN7 ATXN8OS
13 dentatorubral-pallidoluysian atrophy 31.9 ATN1 ATXN2 ATXN3 ATXN7 CACNA1A PPP2R2B
14 aceruloplasminemia 31.3 ATXN1 ATXN10 ATXN2 ATXN3 ATXN7 CACNA1A
15 cerebellar ataxia, deafness, and narcolepsy, autosomal dominant 12.2
16 spinocerebellar ataxia 13 11.8
17 spinocerebellar ataxia 10 11.1
18 spinocerebellar ataxia 5 11.1
19 spinocerebellar ataxia 14 11.1
20 spinocerebellar ataxia 29 10.9
21 spinocerebellar ataxia 34 10.9
22 spinocerebellar ataxia 11 10.9
23 spinocerebellar ataxia 15 10.9
24 spinocerebellar ataxia 21 10.9
25 spinocerebellar ataxia 20 10.9
26 spinocerebellar ataxia 25 10.9
27 spinocerebellar ataxia 26 10.9
28 spinocerebellar ataxia 23 10.9
29 spinocerebellar ataxia type 19/22 10.9
30 harding ataxia 10.9
31 spinocerebellar degeneration 10.9 ATXN1 ATXN2 ATXN3
32 ataxia-oculomotor apraxia 3 10.8
33 spinal and bulbar muscular atrophy, x-linked 1 10.8 ATXN1 ATXN3 ATXN7
34 spinocerebellar ataxia 36 10.8 ATXN10 ATXN2 PPP2R2B
35 neuronal intranuclear inclusion disease 10.7 ATXN1 ATXN3
36 cerebellar degeneration 10.6 ATXN2 CACNA1A
37 friedreich ataxia 1 10.6 ATXN1 ATXN2 ATXN3 ATXN8OS CACNA1A
38 huntington disease 10.5 ATN1 ATXN1 ATXN3 TBP
39 cerebellar disease 10.4 ATXN10 ATXN2 ATXN3 ATXN7 CACNA1A PPP2R2B
40 parkinson disease, late-onset 10.4 ATXN2 ATXN3 ATXN8OS TBP
41 olivopontocerebellar atrophy 10.3 ATXN2 ATXN7
42 narcolepsy 10.2
43 type i 10.2
44 retinitis 10.1
45 retinal degeneration 10.1
46 neuropathy 10.1
47 peripheral nervous system disease 10.0
48 paraplegia 9.9
49 spasticity 9.9
50 hereditary ataxia 9.6 AFG3L2 ATN1 ATXN1 ATXN10 ATXN2 ATXN3

Graphical network of the top 20 diseases related to Autosomal Dominant Cerebellar Ataxia:



Diseases related to Autosomal Dominant Cerebellar Ataxia
Sources

Symptoms & Phenotypes for Autosomal Dominant Cerebellar Ataxia

About this section

Human phenotypes related to Autosomal Dominant Cerebellar Ataxia:

32 (show all 17)
# Description HPO Frequency HPO Source Accession
1 external ophthalmoplegia 32 occasional (7.5%) HP:0000544
2 nystagmus 32 hallmark (90%) HP:0000639
3 optic atrophy 32 hallmark (90%) HP:0000648
4 behavioral abnormality 32 frequent (33%) HP:0000708
5 ataxia 32 hallmark (90%) HP:0001251
6 spasticity 32 frequent (33%) HP:0001257
7 dysarthria 32 frequent (33%) HP:0001260
8 cerebellar atrophy 32 hallmark (90%) HP:0001272
9 gait disturbance 32 hallmark (90%) HP:0001288
10 reduced tendon reflexes 32 frequent (33%) HP:0001315
11 vocal cord paralysis 32 frequent (33%) HP:0001605
12 emphysema 32 frequent (33%) HP:0002097
13 distal amyotrophy 32 occasional (7.5%) HP:0003693
14 type ii diabetes mellitus 32 occasional (7.5%) HP:0005978
15 impaired pain sensation 32 frequent (33%) HP:0007328
16 abnormality of retinal pigmentation 32 hallmark (90%) HP:0007703
17 tonic pupil 32 hallmark (90%) HP:0012074

UMLS symptoms related to Autosomal Dominant Cerebellar Ataxia:


ataxia, cerebellar ataxia

MGI Mouse Phenotypes related to Autosomal Dominant Cerebellar Ataxia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.7 AFG3L2 ATN1 ATXN1 ATXN2 ATXN3 ATXN7
2 nervous system MP:0003631 9.36 AFG3L2 ATN1 ATXN1 ATXN2 ATXN3 ATXN7
Sources

Drugs & Therapeutics for Autosomal Dominant Cerebellar Ataxia

About this section

Drugs for Autosomal Dominant Cerebellar Ataxia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 182)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Clonidine Approved Phase 4 4205-90-7 2803
2 Estradiol valerate Approved, Investigational, Vet_approved Phase 4 979-32-8
3
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
4
Polyestradiol phosphate Approved Phase 4 28014-46-2
5
Pioglitazone Approved, Investigational Phase 4,Phase 3 111025-46-8 4829
6
Metformin Approved Phase 4 657-24-9 14219 4091
7
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
8
Citalopram Approved Phase 4 59729-33-8 2771
9
Bupropion Approved Phase 4 34841-39-9, 34911-55-2 444
10
Amantadine Approved Phase 4 768-94-5 2130
11 insulin Phase 4
12 Analgesics Phase 4,Phase 1,Phase 2
13 Adrenergic Agents Phase 4
14 Adrenergic Agonists Phase 4
15 Adrenergic alpha-2 Receptor Agonists Phase 4
16 Adrenergic alpha-Agonists Phase 4
17 Mitogens Phase 4
18 Contraceptive Agents Phase 4
19 Sympatholytics Phase 4
20 Neurotransmitter Agents Phase 4,Phase 2,Phase 3
21 Hormone Antagonists Phase 4,Phase 3,Phase 2,Not Applicable,Early Phase 1
22 Hormones Phase 4,Phase 3,Phase 2,Not Applicable,Early Phase 1
23 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Not Applicable,Early Phase 1
24 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable,Early Phase 1
25 Estradiol 17 beta-cypionate Phase 4
26 Estradiol 3-benzoate Phase 4
27 Estrogens Phase 4
28 Antihypertensive Agents Phase 4,Phase 2
29 Insulin, Globin Zinc Phase 4
30 Autonomic Agents Phase 4,Phase 3,Not Applicable,Early Phase 1
31 Cholinergic Agents Phase 4,Phase 2,Phase 3
32 Muscarinic Antagonists Phase 4
33 Cholinergic Antagonists Phase 4
34 Serotonin Agents Phase 4
35 Serotonin Uptake Inhibitors Phase 4
36 Analgesics, Non-Narcotic Phase 4,Phase 1,Phase 2
37 Neurotransmitter Uptake Inhibitors Phase 4
38 Cytochrome P-450 CYP2D6 Inhibitors Phase 4
39 Cytochrome P-450 Enzyme Inhibitors Phase 4
40 Parasympatholytics Phase 4
41 Dopamine Agents Phase 4
42 Dopamine Uptake Inhibitors Phase 4
43 Hypoglycemic Agents Phase 4,Phase 3
44 Antidepressive Agents Phase 4,Phase 2,Phase 3,Phase 1
45 Antidepressive Agents, Second-Generation Phase 4
46 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Not Applicable
47 Antiparkinson Agents Phase 4
48 Psychotropic Drugs Phase 4,Phase 2,Phase 3,Phase 1
49 Antiviral Agents Phase 4,Phase 3,Phase 2,Not Applicable
50 arginine Nutraceutical Phase 4

Interventional clinical trials:

(show top 50) (show all 123)
# Name Status NCT ID Phase Drugs
1 Status of Growth Hormone/ Insulin-like Growth Factor-1 (GH/IGF-1) Axis and Growth Failure in Ataxia Telangiectasia (AT) Unknown status NCT01052623 Phase 4 Somatropin, Clonidine, L-Arginin-Hydrochloride, Estradiol valerate
2 Response of Individuals With Ataxia-Telangiectasia to Metformin and Pioglitazone Completed NCT02733679 Phase 4 Metformin;Pioglitazone
3 Amantadine for Improving Neurologic Symptoms in Ataxia-Telangiectasia Completed NCT00950196 Phase 4 amantadine sulphate
4 An Objective Double-blind Evaluation of Bupropion and Citalopram in an Individual With Friedreich Ataxia Completed NCT01716221 Phase 4 bupropion & Citalopram;Bupropion & Placebo;Placebo & Citalopram;Placebo & Placebo
5 Safety and Efficacy of Lithium Carbonate in Patients With Spinocerebellar Ataxia Type 3 Completed NCT01096082 Phase 2, Phase 3 Lithium Carbonate;Placebo
6 A Long-Term Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) Completed NCT01970124 Phase 3 KPS-0373, High dose;KPS-0373, Low dose
7 A 24-week Open-label Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) Completed NCT01970137 Phase 3 KPS-0373, High dose;KPS-0373, Low dose
8 An Extension Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) Completed NCT01970111 Phase 3 KPS-0373, High dose;KPS-0373, Low dose
9 A Confirmatory Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) Completed NCT01970098 Phase 3 KPS-0373, High dose;KPS-0373, Low dose;Placebo
10 Efficacy of Riluzole in Hereditary Cerebellar Ataxia Completed NCT01104649 Phase 2, Phase 3 riluzole;Placebo comparator
11 Conjugate Pneumococcal Vaccine in Ataxia Telangiectasia (AT) Completed NCT00656409 Phase 3 Conjugated pneumococcal vaccine (Prevenar)
12 Long-Term Safety Extension Study of ACTIMMUNE® (Interferon γ-1b) in Children and Young Adults With Friedreich's Ataxia Completed NCT02797080 Phase 3 interferon γ-1b
13 Safety, Tolerability and Efficacy of ACTIMMUNE® Dose Escalation in Friedreich's Ataxia Study Completed NCT02593773 Phase 3 Interferon γ-1b
14 Safety, Tolerability and Efficacy of ACTIMMUNE® Dose Escalation in Friedreich's Ataxia Completed NCT02415127 Phase 3 Interferon γ-1b;Placebo
15 Patient Reported Outcomes in Friedreich's Ataxia Patients After Withdrawal From Treatment With Idebenone (PROTI) Completed NCT01303406 Phase 3 Idebenone;Placebo
16 Long-Term Safety and Tolerability of Idebenone in Friedreich's Ataxia Patients (MICONOS Extension) Completed NCT00993967 Phase 3 idebenone
17 A Study of Efficacy, Safety and Tolerability of Idebenone in the Treatment of Friedreich's Ataxia (FRDA) Patients Completed NCT00905268 Phase 3 idebenone;Placebo
18 Effect of Pioglitazone Administered to Patients With Friedreich's Ataxia: Proof of Concept Completed NCT00811681 Phase 3 pioglitazone;Placebo
19 Study to Assess the Safety and Tolerability of Idebenone in the Treatment of Friedreich's Ataxia Patients Completed NCT00697073 Phase 3 Idebenone
20 Study to Assess the Efficacy, Safety and Tolerability of Idebenone in the Treatment of Friedreich's Ataxia Completed NCT00537680 Phase 3 Idebenone;Idebenone;Placebo
21 EDS in Ataxia Telangiectasia Patients Recruiting NCT02770807 Phase 3 EDS-EP dose range of ~5-10 mg DSP/infusion;EDS-EP dose range of ~14-22 mg DSP/infusion;Placebo
22 Trial in Adult Subjects With Spinocerebellar Ataxia Active, not recruiting NCT02960893 Phase 2, Phase 3 BHV-4157;Placebo Comparator
23 An Additional Confirmatory Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) Active, not recruiting NCT02889302 Phase 3 KPS-0373;Placebo
24 An Open Pilot Trial of BHV-4157 Active, not recruiting NCT03408080 Phase 3 BHV-4157
25 Clinical Trial With Riluzole in Spinocerebellar Ataxia Type 2 (ATRIL) Not yet recruiting NCT03347344 Phase 3 Riluzole;Placebo
26 Open-label, Long-term, Extension Treatment Using Intra-Erythrocyte Dexamethasone Sodium Phosphate in Patients With Ataxia Telangiectasia Who Participated in the IEDAT-02-2015 Study Not yet recruiting NCT03563053 Phase 3
27 Pilot Study of Varenicline (Chantix®) in the Treatment of Friedreich's Ataxia Terminated NCT00803868 Phase 2, Phase 3 varenicline;placebo
28 A New Method to Treat Hereditary Cerebellar Ataxia - Umbilical Cord Mesenchymal Stem Cells Transplantation Unknown status NCT01489267 Phase 2
29 Safety and Efficacy of Umbilical Cord Mesenchymal Stem Cell Therapy for Patients With Hereditary Ataxia Unknown status NCT01360164 Phase 1, Phase 2
30 Study to Determine the Safety and Tolerability of Varenicline (Chantix®) in Treating Spinocerebellar Ataxia Type 3 Completed NCT00992771 Phase 2 varenicline;placebo
31 Safety and Efficacy of Intravenous Immune Globulin in Treating Spinocerebellar Ataxia Completed NCT01350440 Phase 2
32 Safety and Tolerability of Lithium in Spinocerebellar Ataxia 2 (SCA2) Completed NCT00998634 Phase 2 LITHIUM CARBONATE
33 A Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) Completed NCT01004016 Phase 2 KPS-0373;Placebo
34 Phase II Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) Completed NCT00863538 Phase 2 KPS-0373
35 A Phase II Double Blind Comparative Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) Completed NCT01384435 Phase 2 KPS-0373;KPS-0373;KPS-0373;KPS-0373;Placebo
36 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
37 High-Dose Intravenous Immunoglobulin to Treat Cerebellar Degeneration Completed NCT00034242 Phase 2 high-dose intravenous immunoglobulin (IVIG)
38 The Influence of Deep TMS on Cerebellar Signs in Patients With Machado Joseph Disease Completed NCT02039206 Phase 2
39 Effect of Riluzole as a Symptomatic Approach in Patients With Chronic Cerebellar Ataxia Completed NCT00202397 Phase 2 Riluzole
40 A First in Human Study of RT001 in Patients With Friedreich's Ataxia Completed NCT02445794 Phase 1, Phase 2 RT001;RT001 comparator
41 A Phase IIa Trial to Test Safety and Efficacy Interferon Gamma Treatment in Elevating Frataxin Levels in FRDA Patients Completed NCT02035020 Phase 2 gamma interferon
42 Interferon Gamma-1b in Friedreich Ataxia (FRDA) Completed NCT01965327 Phase 2 Interferon Gamma-1b
43 EPI-743 in Friedreich's Ataxia Point Mutations Completed NCT01962363 Phase 2 EPI-743
44 Safety and Efficacy of EPI-743 in Patients With Friedreich's Ataxia Completed NCT01728064 Phase 2 Placebo;EPI-743 400 mg;EPI-743 200 mg
45 Efficacy Study of Epoetin Alfa in Friedreich Ataxia Completed NCT01493973 Phase 2 Epoetin alfa;Placebo
46 A Study of Resveratrol as Treatment for Friedreich Ataxia Completed NCT01339884 Phase 1, Phase 2 Resveratrol
47 Safety and Efficacy Study of A0001 in Subjects With Friedreich's Ataxia Completed NCT01035671 Phase 2 alpha-tocopherolquinone (A0001);alpha-tocopherolquinone (A0001);placebo
48 Safety Study of Carbamylated Erythropoietin to Treat Patients With the Neurodegenerative Disorder Friedreich's Ataxia Completed NCT01016366 Phase 2 Lu AA24493;Placebo
49 A Study Investigating the Long-term Safety and Efficacy of Deferiprone in Patients With Friedreich's Ataxia Completed NCT00897221 Phase 2 Deferiprone oral solution 100mg/mL;Deferiprone oral solution 100 mg/mL
50 Efficacy of EGb761 in Patients Suffering From Friedreich Ataxia Completed NCT00824512 Phase 2 EGb 761 120 mg;Placebo

Search NIH Clinical Center for Autosomal Dominant Cerebellar Ataxia

Cochrane evidence based reviews: spinocerebellar ataxias

Sources

Genetic Tests for Autosomal Dominant Cerebellar Ataxia

About this section
Sources

Anatomical Context for Autosomal Dominant Cerebellar Ataxia

About this section

MalaCards organs/tissues related to Autosomal Dominant Cerebellar Ataxia:

41
Brain, Testes, Eye, Liver, Spinal Cord, Cerebellum, Cortex
Sources

Publications for Autosomal Dominant Cerebellar Ataxia

About this section

Articles related to Autosomal Dominant Cerebellar Ataxia:

(show top 50) (show all 1254)
# Title Authors Year
1
Calcium Signaling, PKC Gamma, IP3R1 and CAR8 Link Spinocerebellar Ataxias and Purkinje Cell Dendritic Development. ( 28554312 )
2018
2
SNX14 mutations affect endoplasmic reticulum-associated neutral lipid metabolism in autosomal recessive spinocerebellar ataxia 20. ( 29635513 )
2018
3
Spinocerebellar ataxia 17: full phenotype in a 41 CAG/CAA repeats carrier. ( 29564144 )
2018
4
Case Report: A patient with spinocerebellar ataxia type 31 and sporadic Creutzfeldt-Jakob disease. ( 29411683 )
2018
5
Elevated Global DNA Methylation Is Not Exclusive to Amyotrophic Lateral Sclerosis and Is Also Observed in Spinocerebellar Ataxia Types 1 and 2. ( 29428949 )
2018
6
Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy. ( 29718187 )
2018
7
The Neuropathology of Spinocerebellar Ataxia Type 3/Machado-Joseph Disease. ( 29427106 )
2018
8
Spinocerebellar Ataxia Type 31 with Blepharospasm. ( 29434122 )
2018
9
Simulation Based Investigation of Deleterious nsSNPs in ATXN2 Gene and Its Structural Consequence Toward Spinocerebellar Ataxia. ( 28612427 )
2018
10
<i>CAPN1</i> mutations broadening the hereditary spastic paraplegia/spinocerebellar ataxia phenotype. ( 29678961 )
2018
11
Novel Features and Abnormal Pattern of Cerebral Glucose Metabolism in Spinocerebellar Ataxia 19. ( 29527639 )
2018
12
Towards the Identification of Molecular Biomarkers of Spinocerebellar Ataxia Type 3 (SCA3)/Machado-Joseph Disease (MJD). ( 29427111 )
2018
13
Spinocerebellar Ataxia 27: A Review and Characterization of an Evolving Phenotype. ( 29416937 )
2018
14
Machado-Joseph disease / Spinocerebellar ataxia type 3:lessons from disease pathogenesis and clues into therapy. ( 29959858 )
2018
15
n-Butylidenephthalide exhibits protection against neurotoxicity through regulation of tryptophan 2, 3 dioxygenase in spinocerebellar ataxia type 3. ( 28223212 )
2017
16
Oculomotor deficits in spinocerebellar ataxia type 3: Potential biomarkers of preclinical detection and disease progression. ( 28195427 )
2017
17
Distinguishing spinocerebellar ataxia with pure cerebellar manifestation from multiple system atrophy (MSA-C) through saccade profiles. ( 27866117 )
2017
18
Increased biological activity of protein Kinase C gamma is not required in Spinocerebellar ataxia 14. ( 28738819 )
2017
19
Antisense Oligonucleotides Reduce RNA Foci in Spinocerebellar Ataxia 36 Patient iPSCs. ( 28918022 )
2017
20
A Complete Association of an intronic SNP rs6798742 with Origin of Spinocerebellar Ataxia Type 7-CAG Expansion Loci in the Indian and Mexican Population. ( 28597910 )
2017
21
<i>In vitro</i> characterization of six<i>STUB1</i>variants in spinocerebellar ataxia 16 reveals altered structural properties for the encoded CHIP proteins. ( 28396517 )
2017
22
Analysis of a fully penetrant spinocerebellar ataxia type 8 Brazilian family. ( 28229454 )
2017
23
First report of a Japanese family with spinocerebellar ataxia type 10: The second report from Asia after a report from China. ( 28542277 )
2017
24
Inheritance patterns of ATCCT repeat interruptions in spinocerebellar ataxia type 10 (SCA10) expansions. ( 28423040 )
2017
25
Association of glutathione S-transferase omega polymorphism and spinocerebellar ataxia type 2. ( 28017238 )
2017
26
Dystonia and ataxia progression in spinocerebellar ataxias. ( 29089256 )
2017
27
CAG repeat length does not associate with the rate of cerebellar degeneration in spinocerebellar ataxia type 3. ( 27942452 )
2017
28
Synergistic Toxicity of Polyglutamine-Expanded TATA-Binding Protein in Glia and Neuronal Cells: Therapeutic Implications for Spinocerebellar Ataxia 17. ( 28821675 )
2017
29
Autosomal recessive spinocerebellar ataxia 20: Report of a new patient and review of literature. ( 27913285 )
2017
30
Interaction of the polyglutamine protein ataxin-3 with Rad23 regulates toxicity in Drosophila models of Spinocerebellar Ataxia Type 3. ( 28158474 )
2017
31
A novel gain-of-function mutation in the ITPR1 suppressor domain causes spinocerebellar ataxia with altered Ca<sup>2+</sup> signal patterns. ( 28620721 )
2017
32
Knockdown and replacement therapy mediated by artificial mirtrons in spinocerebellar ataxia 7. ( 28575281 )
2017
33
Gene dosage effect in spinocerebellar ataxia type 6 homozygotes: A clinical and neuropathological study. ( 28131213 )
2017
34
NESSCA Validation and Responsiveness of Several Rating Scales in Spinocerebellar Ataxia Type 2. ( 28456900 )
2017
35
Co-existence of spastic paraplegia-30 with novel KIF1A mutation and spinocerebellar ataxia 31 with intronic expansion of BEAN and TK2 in a family. ( 28017198 )
2017
36
Prevalence of spinocerebellar ataxia 36 in a US population. ( 28761930 )
2017
37
Peripheral Oxidative Stress Biomarkers in Spinocerebellar Ataxia Type 3/Machado-Joseph Disease. ( 28979235 )
2017
38
Bicistronic CACNA1A Gene Expression in Neurons Derived from Spinocerebellar Ataxia Type 6 Patient Induced Pluripotent Stem Cells. ( 28946818 )
2017
39
Treatment with Caffeic Acid and Resveratrol Alleviates Oxidative Stress Induced Neurotoxicity in Cell and Drosophila Models of Spinocerebellar Ataxia Type3. ( 28912527 )
2017
40
Antisense Oligonucleotide-Mediated Removal of the Polyglutamine Repeat in Spinocerebellar Ataxia Type 3 Mice. ( 28918024 )
2017
41
A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia. ( 28686858 )
2017
42
Arginine vasopressin relates with spatial learning and memory in a mouse model of spinocerebellar ataxia type 3. ( 28619276 )
2017
43
Heterotopic Purkinje Cells: a Comparative Postmortem Study of Essential Tremor and Spinocerebellar Ataxias 1, 2, 3, and 6. ( 28791574 )
2017
44
Buccal Cell Micronucleus Frequency Is Significantly Elevated in Patients with Spinocerebellar Ataxia Type 2. ( 28923333 )
2017
45
The Multiple Faces of Spinocerebellar Ataxia type 2. ( 28904990 )
2017
46
Clinical behaviour of spinocerebellar ataxia type 12 and intermediate length abnormal CAG repeats in PPP2R2B. ( 27864267 )
2017
47
Spinocerebellar Ataxia 27: Clinical Phenotype of Twin Sisters with FGF14 Deletion. ( 28192817 )
2017
48
Impaired Cerebellum to Primary Motor Cortex Associative Plasticity in Parkinson's Disease and Spinocerebellar Ataxia Type 3. ( 28900413 )
2017
49
Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44. ( 28886343 )
2017
50
Neural correlates of ataxia severity in spinocerebellar ataxia type 3/Machado-Joseph disease. ( 28593048 )
2017
Sources

Variations for Autosomal Dominant Cerebellar Ataxia

About this section
Sources

Expression for Autosomal Dominant Cerebellar Ataxia

About this section
Search GEO for disease gene expression data for Autosomal Dominant Cerebellar Ataxia.
Sources

Pathways for Autosomal Dominant Cerebellar Ataxia

About this section

Pathways related to Autosomal Dominant Cerebellar Ataxia according to KEGG:

37
# Name Kegg Source Accession
1 Long-term depression hsa04730
2 Ribosome biogenesis in eukaryotes hsa03008

Pathways related to Autosomal Dominant Cerebellar Ataxia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Akt Signaling 64
Show member pathways
 12.37 ATXN1 ATXN10 ATXN2 ATXN3 ATXN7 FGF14
2
Chks in Checkpoint Regulation 64
Show member pathways
 11.96 ATXN1 ATXN10 ATXN2 ATXN3 ATXN7
3
Dopamine-DARPP32 Feedback onto cAMP Pathway 64
11.81 CACNA1A KCNC3 PPP2R2B PRKCG
Sources

GO Terms for Autosomal Dominant Cerebellar Ataxia

About this section

Cellular components related to Autosomal Dominant Cerebellar Ataxia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear inclusion body GO:0042405 8.96 ATXN1 ATXN3
2 nuclear matrix GO:0016363 8.92 ATN1 ATXN1 ATXN3 ATXN7

Biological processes related to Autosomal Dominant Cerebellar Ataxia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to pain GO:0048265 8.62 CACNA1A PRKCG
Sources

Sources for Autosomal Dominant Cerebellar Ataxia

About this section
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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
Content
Loading form....