SCA
MCID: ATS308
MIFTS: 60

Autosomal Dominant Cerebellar Ataxia (SCA)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Autosomal Dominant Cerebellar Ataxia

MalaCards integrated aliases for Autosomal Dominant Cerebellar Ataxia:

Name: Autosomal Dominant Cerebellar Ataxia 12 52 58 15
Spinocerebellar Ataxia 12 74 52 36
Ataxia, Spinocerebellar 39 71
Adca 52 58
Autosomal Dominant Spinocerebellar Ataxia 58
Spinocerebellar Ataxias 54
Sca 52

Characteristics:

Orphanet epidemiological data:

58
autosomal dominant cerebellar ataxia
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Worldwide),1-9/100000 (Netherlands),1-9/1000000 (Italy),1-9/100000 (Portugal),1-9/100000 (Europe),1-5/10000 (Japan); Age of onset: All ages; Age of death: adult,elderly,normal life expectancy;

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:1441
KEGG 36 H00063
MeSH 43 D020754
NCIt 49 C82341
SNOMED-CT 67 129609000
ICD10 via Orphanet 33 G11.8
Orphanet 58 ORPHA99
UMLS 71 C0087012

Summaries for Autosomal Dominant Cerebellar Ataxia

NIH Rare Diseases : 52 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, autosomal recessive, with axonal neuropathy 2 and spinocerebellar ataxia, autosomal recessive 14, and has symptoms including ataxia and cerebellar ataxia. An important gene associated with Autosomal Dominant Cerebellar Ataxia is ATXN8OS (ATXN8 Opposite Strand LncRNA), and among its related pathways/superpathways are Spinocerebellar ataxia and Long-term depression. The drugs TA 0910 and Lithium carbonate have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and cerebellum, and related phenotypes are optic atrophy and abnormality of retinal pigmentation

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

KEGG : 36 The autosomal dominant spinocerebellar ataxias (SCAs) are a group of progressive neurodegenerative diseases characterised by loss of balance and motor coordination due to the primary dysfunction of the cerebellum. Compelling evidence points to major aetiological roles for transcriptional dysregulation, protein aggregation and clearance, autophagy, the ubiquitin-proteasome system, alterations of calcium homeostasis, mitochondria defects, toxic RNA gain-of-function mechanisms and eventual cell death with apoptotic features of neurons during SCA disease progression.

Wikipedia : 74 Spinocerebellar ataxia (SCA) is a progressive, degenerative, genetic disease with multiple types, each... more...

Related Diseases for Autosomal Dominant Cerebellar Ataxia

Diseases in the Autosomal Dominant Cerebellar Ataxia family:

Autosomal Recessive Cerebellar Ataxia Cerebellar Ataxia Type 42
Cerebellar Ataxia Type 47 Cerebellar Ataxia Type 41
Cerebellar Ataxia Type 43 Cerebellar Ataxia Type 48
Cerebellar Ataxia Type 9 Congenital Cerebellar Ataxia Due to Rnu12 Mutation
Autosomal Recessive Cerebellar Ataxia Due to a Dna Repair Defect Autosomal Recessive Congenital Cerebellar Ataxia
Autosomal Dominant Cerebellar Ataxia Type I Autosomal Dominant Cerebellar Ataxia Type Iii
Autosomal Dominant Cerebellar Ataxia Type Iv

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

(show top 50) (show all 541)
# Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 35.3 PRKCG CACNA1A ATXN1
2 spinocerebellar ataxia, autosomal recessive 14 35.1 SPTBN2 CACNA1A AFG3L2
3 autosomal dominant cerebellar ataxia type iii 35.0 TTBK2 PLEKHG4 CACNA1A
4 spinocerebellar ataxia, autosomal recessive 8 34.9 SPTBN2 ATXN7
5 spinocerebellar ataxia, autosomal recessive 4 34.9 PLEKHG4 CACNA1A
6 spinocerebellar ataxia 7 34.7 SCAANT1 ATXN8OS ATXN7 ATXN3 ATXN2 ATXN1
7 spinocerebellar ataxia 13 34.4 TTBK2 SPTBN2 KCNC3 FGF14
8 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 33.9 SPTBN2 CACNA1A ATXN7
9 spinocerebellar ataxia 2 33.8 CACNA1A ATXN8OS ATXN7 ATXN3 ATXN2 ATXN10
10 spinocerebellar ataxia 1 33.8 TBP PRKCG PPP2R2B CACNA1A ATXN8OS ATXN7
11 spinocerebellar ataxia 17 33.8 TBP PPP2R2B FGF14 CACNA1A ATXN7 ATXN3
12 spinocerebellar ataxia 12 33.8 TBP PPP2R2B CACNA1A ATXN8OS ATXN7 ATXN3
13 spinocerebellar ataxia 31 33.8 PLEKHG4 CACNA1A ATXN10
14 machado-joseph disease 33.8 TBP CACNA1A ATXN8OS ATXN7 ATXN3 ATXN2
15 friedreich ataxia 33.7 CACNA1A ATXN8OS ATXN3 ATXN2 ATXN10 ATXN1
16 spinocerebellar ataxia 6 33.7 PRKCG PPP2R2B CACNA1A ATXN8OS ATXN7 ATXN2
17 spinocerebellar ataxia 15 33.7 TTBK2 SPTBN2 KCNC3 AFG3L2
18 spinocerebellar ataxia 8 33.6 SCAANT1 PPP2R2B ATXN8OS ATXN7 ATXN2 ATXN10
19 spinocerebellar ataxia 4 33.5 PPP2R2B PLEKHG4 ATXN7 ATXN3 ATXN2 ATXN10
20 dentatorubral-pallidoluysian atrophy 33.5 TBP PPP2R2B KCNC3 FGF14 CACNA1A ATXN7
21 spinocerebellar ataxia 10 33.4 PPP2R2B ATXN8OS ATXN7 ATXN3 ATXN2 ATXN10
22 spinocerebellar ataxia 36 33.4 ATXN8OS ATXN2 ATXN10
23 spinocerebellar ataxia 30 33.3 TTBK2 SPTBN2 SCA30 PPP2R2B PLEKHG4 FGF14
24 spinocerebellar ataxia 14 33.3 PRKCG CACNA1A
25 spinocerebellar ataxia 11 33.3 TTBK2 ATXN10
26 spinocerebellar ataxia 21 33.2 TTBK2 SPTBN2 PLEKHG4 KCNC3 FGF14 AFG3L2
27 spinocerebellar ataxia 18 33.1 TTBK2 SPTBN2 SCA18 PLEKHG4 ATXN7 AFG3L2
28 spinocerebellar ataxia 25 33.1 TTBK2 SCA25 PLEKHG4 FGF14
29 spinocerebellar ataxia 20 33.0 SPTBN2 PLEKHG4
30 cerebellar ataxia type 41 33.0 PRKCG KCNC3 ATXN1 AFG3L2
31 cerebellar ataxia type 42 32.9 KCNC3 CACNA1A ATXN7
32 cerebellar ataxia type 9 32.9 SPTBN2 PPP2R2B PLEKHG4 KCNC3 FGF14 CACNA1A
33 cerebellar ataxia type 47 32.8 KCNC3 ATXN1
34 spinocerebellar ataxia 37 32.7 ATXN8OS ATXN10
35 tremor 31.8 FGF14 CACNA1A ATXN2
36 primary cerebellar degeneration 31.8 CACNA1A ATXN3 ATXN2 ATXN1
37 hereditary ataxia 31.8 TTBK2 TBP SPTBN2 PRKCG PPP2R2B KCNC3
38 restless legs syndrome 31.8 TBP CACNA1A ATXN7 ATXN3 ATXN2 ATXN1
39 dystonia 31.5 TBP PRKCG CACNA1A ATXN7 ATXN3 ATXN1
40 olivopontocerebellar atrophy 31.4 CACNA1A ATXN7 ATXN2
41 episodic ataxia, type 2 31.4 SPTBN2 PRKCG KCNC3 CACNA1A ATXN7
42 fragile x-associated tremor/ataxia syndrome 31.2 PPP2R2B ATXN8OS ATXN10
43 episodic ataxia 31.1 TTBK2 SPTBN2 PRKCG PPP2R2B KCNC3 FGF14
44 episodic ataxia, type 6 31.1 SPTBN2 KCNC3 CACNA1A ATXN7
45 autosomal recessive cerebellar ataxia 31.1 SPTBN2 CACNA1A ATXN7 ATXN10
46 cerebellar disease 31.1 TBP SPTBN2 PRKCG PPP2R2B PLEKHG4 KCNC3
47 parkinson disease, late-onset 31.0 TBP KCNC3 CACNA1A ATXN8OS ATXN7 ATXN3
48 familial adult myoclonic epilepsy 31.0 CACNA1A ATXN8OS ATXN10
49 cerebral palsy, ataxic, autosomal recessive 30.9 SPTBN2 KCNC3
50 endemic typhus 30.7 SPTBN2 PLEKHG4

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



Diseases related to Autosomal Dominant Cerebellar Ataxia

Symptoms & Phenotypes for Autosomal Dominant Cerebellar Ataxia

Human phenotypes related to Autosomal Dominant Cerebellar Ataxia:

58 31 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 optic atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000648
2 abnormality of retinal pigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007703
3 gait disturbance 58 31 hallmark (90%) Very frequent (99-80%) HP:0001288
4 ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001251
5 nystagmus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000639
6 cerebellar atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0001272
7 tonic pupil 58 31 hallmark (90%) Very frequent (99-80%) HP:0012074
8 behavioral abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0000708
9 spasticity 58 31 frequent (33%) Frequent (79-30%) HP:0001257
10 emphysema 58 31 frequent (33%) Frequent (79-30%) HP:0002097
11 reduced tendon reflexes 58 31 frequent (33%) Frequent (79-30%) HP:0001315
12 vocal cord paralysis 58 31 frequent (33%) Frequent (79-30%) HP:0001605
13 dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0001260
14 impaired pain sensation 58 31 frequent (33%) Frequent (79-30%) HP:0007328
15 type ii diabetes mellitus 58 31 occasional (7.5%) Occasional (29-5%) HP:0005978
16 external ophthalmoplegia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000544
17 distal amyotrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003693
18 abnormality of movement 58 Frequent (79-30%)

UMLS symptoms related to Autosomal Dominant Cerebellar Ataxia:


ataxia, cerebellar ataxia

MGI Mouse Phenotypes related to Autosomal Dominant Cerebellar Ataxia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.73 AFG3L2 ATXN1 ATXN2 ATXN3 ATXN7 CACNA1A
2 nervous system MP:0003631 9.4 AFG3L2 ATXN1 ATXN2 ATXN3 ATXN7 CACNA1A

Drugs & Therapeutics for Autosomal Dominant Cerebellar Ataxia

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

(show top 50) (show all 69)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 TA 0910 Phase 4
2
Lithium carbonate Approved Phase 2, Phase 3 554-13-2
3
Riluzole Approved, Investigational Phase 2, Phase 3 1744-22-5 5070
4
Glutamic acid Approved, Nutraceutical Phase 3 56-86-0 33032
5 Antidepressive Agents Phase 2, Phase 3
6 Psychotropic Drugs Phase 2, Phase 3
7 Thyrotropin-Releasing Hormone Phase 3
8 Neurotransmitter Agents Phase 2, Phase 3
9 Excitatory Amino Acid Antagonists Phase 2, Phase 3
10 Neuroprotective Agents Phase 2, Phase 3
11 Anticonvulsants Phase 2, Phase 3
12 Protective Agents Phase 2, Phase 3
13
Varenicline Approved, Investigational Phase 2 249296-44-4 5310966
14
Menthol Approved Phase 2 2216-51-5 16666
15
Prednisolone phosphate Approved, Vet_approved Phase 1, Phase 2 302-25-0
16
Mesna Approved, Investigational Phase 1, Phase 2 3375-50-6 598
17
Methylprednisolone Approved, Vet_approved Phase 1, Phase 2 83-43-2 6741
18
Methylprednisolone hemisuccinate Approved Phase 1, Phase 2 2921-57-5
19
Sargramostim Approved, Investigational Phase 1, Phase 2 83869-56-1, 123774-72-1
20
Cyclophosphamide Approved, Investigational Phase 1, Phase 2 50-18-0, 6055-19-2 2907
21
Lenograstim Approved, Investigational Phase 1, Phase 2 135968-09-1
22
rituximab Approved Phase 1, Phase 2 174722-31-7 10201696
23 Prednisolone acetate Approved, Vet_approved Phase 1, Phase 2 52-21-1
24
Prednisolone Approved, Vet_approved Phase 1, Phase 2 50-24-8 5755
25
4-Aminopyridine Approved Phase 1, Phase 2 504-24-5 1727
26
Prednisolone hemisuccinate Experimental Phase 1, Phase 2 2920-86-7
27 Rho(D) Immune Globulin Phase 2
28 gamma-Globulins Phase 2
29 Immunoglobulins, Intravenous Phase 2
30 Pharmaceutical Solutions Phase 2
31 Nicotinic Agonists Phase 2
32 Cholinergic Agents Phase 2
33 Calcium, Dietary Phase 2
34 interferons Phase 2
35 Antiviral Agents Phase 2
36 Interferon-gamma Phase 2
37 Anti-Infective Agents Phase 2
38 Antibodies Phase 1, Phase 2
39 Immunoglobulins Phase 1, Phase 2
40 Immunologic Factors Phase 1, Phase 2
41 Hormones Phase 1, Phase 2
42 Gastrointestinal Agents Phase 1, Phase 2
43 Antineoplastic Agents, Immunological Phase 1, Phase 2
44 Methylprednisolone Acetate Phase 1, Phase 2
45 Antineoplastic Agents, Hormonal Phase 1, Phase 2
46 Immunosuppressive Agents Phase 1, Phase 2
47 Antibodies, Monoclonal Phase 1, Phase 2
48 Antiemetics Phase 1, Phase 2
49 Alkylating Agents Phase 1, Phase 2
50 Hormone Antagonists Phase 1, Phase 2

Interventional clinical trials:

(show top 50) (show all 84)
# Name Status NCT ID Phase Drugs
1 Multicenter, Randomized, Double-blind, Placebo-controlled, Phase IV Clinical Trial to Evaluate and Compare the Safety and Efficacy of C-Trelin OD Tab 5mg(Taltirelin Hydrate) in Patients With Ataxia Induced by Spinocerebellar Degeneration Recruiting NCT04107740 Phase 4 C-Trelin OD Tab(5mg Taltirelin Hydrate);Placebo
2 Randomized Clinical Trial to Assess the Safety and Efficacy of Lithium Carbonate in Patients With Spinocerebellar Ataxia Type 3 Completed NCT01096082 Phase 2, Phase 3 Lithium Carbonate;Placebo
3 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
4 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
5 An Extension Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) Completed NCT01970111 Phase 3 KPS-0373, High dose;KPS-0373, Low dose
6 A Phase III Confirmatory Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) Completed NCT01970098 Phase 3 KPS-0373, High dose;KPS-0373, Low dose;Placebo
7 Efficacy of Riluzole in Hereditary Cerebellar Ataxia: a Randomized Double-blind Placebo-controlled Trial. Completed NCT01104649 Phase 2, Phase 3 riluzole;Placebo comparator
8 An Additional Phase III Confirmatory Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) Completed NCT02889302 Phase 3 KPS-0373;Placebo
9 A Phase III, Long-Term, Randomized, Double-blind, Placebo-controlled Trial of Troriluzole in Adult Subjects With Spinocerebellar Ataxia. Recruiting NCT03701399 Phase 3 troriluzole;Placebos
10 Multicenter, Randomized, Double Blind, Placebo Controlled Clinical Trial With Riluzole in Spinocerebellar Ataxia Type 2 Recruiting NCT03347344 Phase 3 Riluzole;Placebo
11 A Phase IIb/III, Randomized, Double-blind, Placebo-controlled Trial of Troriluzole in Adult Subjects With Spinocerebellar Ataxia Active, not recruiting NCT02960893 Phase 2, Phase 3 Troriluzole;Placebo Comparator
12 An Open Pilot Trial of BHV-4157 in Adult Subjects With Cerebellar Ataxia Active, not recruiting NCT03408080 Phase 3 BHV-4157
13 Riluzole in Patients With Spinocerebellar Ataxia Type 7: a Randomized , Double-blind, Placebo-controlled Pilot Trial With a Lead in Phase Not yet recruiting NCT03660917 Phase 2, Phase 3 Riluzole;Placebo
14 A Phase II, Randomized, Double-Blind, Placebo-Controlled, Single-Center Study to Evaluate the Safety and Efficacy of Stemchymal® Infusion for the Treatment of Polyglutamine Spinocerebellar Ataxia Unknown status NCT02540655 Phase 2
15 A Clinical Research on the Safety/Efficacy of Umbilical Cord Mesenchymal Stem Cells Therapy for Patients With Spinocerebellar Ataxia Unknown status NCT03378414 Phase 2
16 Phase I/II Study of Umbilical Cord Mesenchymal Stem Cell Therapy for Patients With Hereditary Ataxia Unknown status NCT01360164 Phase 1, Phase 2
17 The Safety and Efficacy of Umbilical Cord Mesenchymal Stem Cells Transplantation in Hereditary Cerebellar Ataxia Patients Unknown status NCT01489267 Phase 2
18 Varenicline for the Treatment of Postural and Gait Dysfunction in Parkinson Disease Unknown status NCT01341080 Phase 2 Varenicline;Sugar pill
19 Safety and Efficacy of Intravenous Immune Globulin in Treating Spinocerebellar Ataxia Completed NCT01350440 Phase 2
20 Randomized, Placebo-controlled Trial to Test Safety, Tolerability and Efficacy of Lithium Carbonate in Spinocerebellar Ataxia 2 Completed NCT00998634 Phase 2 LITHIUM CARBONATE
21 A Pilot, Randomized, Double-blind, Placebo-controlled Phase I Study to Determine the Safety and Tolerability of Varenicline (Chantix®) in Treating Spinocerebellar Ataxia Type 3 Completed NCT00992771 Phase 2 varenicline;placebo
22 A Single-Center, Randomized, Double-Blind, Parallel-Group, Dose-Controlled 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
23 An Open-label, Phase II Study of KPS-0373 in Patients With SCD Completed NCT00863538 Phase 2 KPS-0373
24 A Double-blind, Placebo-controlled, Crossover Study, Followed by Open-label Study of KPS-0373 in Patients With SCD Completed NCT01004016 Phase 2 KPS-0373;Placebo
25 The Influence of Deep Repetitive Transcranial Magnetic Stimulation (TMS) on Cerebellar Signs in Patients With Spinocerebellar Ataxia Type 3 (SCA3 - Machado Joseph Disease) Completed NCT02039206 Phase 2
26 Phase 2 Study of Riluzole Effects on Patients With Chronic Cerebellar Ataxia Completed NCT00202397 Phase 2 Riluzole
27 The Efficacy of High-Dose Intravenous Immunoglobulin Therapy In Patients With Cerebellar Degeneration: A Double Blind, Placebo Controlled Trial Completed NCT00034242 Phase 2 high-dose intravenous immunoglobulin (IVIG)
28 Safety and Efficacy of γIFN Treatment in Friedreich Ataxia Completed NCT03888664 Phase 2 gamma interferon
29 Effect of Nilotinib in Cerebellar Ataxia Patients Active, not recruiting NCT03932669 Phase 2 Nilotinib
30 Non-myeloablative Hematopoietic Stem Cell Transplantation for Stiff Person Syndrome (SPS) and Anti-GAD Antibody Variants: Progressive Encephalomyelitis With Rigidity and Myoclonus (PERM), and Adult Onset Autoimmune Anti-GAD Positive Cerebellar Ataxia Active, not recruiting NCT02282514 Phase 1, Phase 2 Cyclophosphamide;Mesna;rATG;Methylprednisolone;G-CSF;Rituxan
31 A Single Dose Pharmaco-Diagnostic for Peripheral Nerve Continuity After Trauma Not yet recruiting NCT04026568 Phase 1, Phase 2 4-Aminopyridine;Placebo oral tablet
32 Phase 2 Randomized, Double-blind, Placebo-controlled Study to Evaluate the Safety, Tolerability, and Efficacy of CAD-1883 in Adults With Spinocerebellar Ataxia (Synchrony-1) Suspended NCT04301284 Phase 2 CAD-1883;Placebos
33 Phenylbutyrate in SCA3: a Double-blind, Placebo-controlled Study to Determine Safety and Efficacy of Sodium Phenylbutyrate in Patients With SCA3 Withdrawn NCT01096095 Phase 2 Placebo;Sodium Phenylbutyrate
34 An Open-label Trial of Intravenous Immune Globulin (IVIG)in Treating Spinocerebellar Ataxias Unknown status NCT02287064 Phase 1 Intravenous Immune Globulin (IVIG)
35 Pilot Study of Tolerability of Lithium Therapy in Patients With Spinocerebellar Ataxia Type I (SCA1) Completed NCT00683943 Phase 1 Lithium Carbonate
36 Safety and Tolerability of Coenzyme Q10 in Adult-Onset Sporadic Spinocerebellar Ataxia Completed NCT00957216 Phase 1 Placebo (sugar pill);Coenzyme Q10
37 Slowing Down Disease Progression in Premanifest SCA: a Piloting Interventional Exergame Trial Unknown status NCT02867969
38 Machado-Joseph Disease in Israel: Clinical Phenotype and Genotype of a Jew Yemenite Subpopulation Unknown status NCT02175290
39 Prospective Study of Individuals at Risk for Spinocerebellar Ataxia Type 1, Type 2, Type 3, Type 6 and Type 7 (SCA1, SCA2, SCA3, SCA6, SCA7) Unknown status NCT01037777
40 Non Invasive Prenatal Diagnosis on Isolated Circulating Fetal Trophoblastic Cells (CFTC) for Triplet Repeat Diseases Unknown status NCT03087526
41 Natural History, Genetic Bases and Phenotype-genotype Correlations in Autosomal Dominant Spinocerebellar Degenerations Unknown status NCT00136630
42 Deep Brain Stimulation on Cerebellar Ataxia Unknown status NCT03341416
43 Identification of Biomarkers in Patients With Autosomal Dominant Cerebellar Ataxia Completed NCT01470729
44 Neuromuscular Electrical Stimulation on Median Nerve Facilitates Low Motor Cortex Excitability in Human With Spinocerebellar Ataxia Completed NCT02103075
45 Pathogenic Mechanism of Spinocerebellar Ataxia Type 10 (SCA10) Completed NCT00004306
46 Therapeutic Effect of Dalfampridine on Gait Incoordination in Spinocerebellar Ataxias- A Randomized, Double-blinded, Placebo-controlled, Crossover Clinical Trial Completed NCT01811706 Dalfampridine;Placebo
47 Coordination Training With Complete Body Video Games in Children and Adults With Degenerative Ataxias Completed NCT02874911
48 Clinical Effects of Oral Trehalose In Patients With Spinocerebellar Ataxia 3: A Pilot Study Completed NCT04426149
49 Integrative Medicine and Tai-chi in Clinical Status of Spinocerebellar Ataxia Completed NCT03687190 conventional medicine
50 The Effect of Whole Body Vibration Training on Neuromuscular Property in Individuals With Ataxia Completed NCT01983631

Search NIH Clinical Center for Autosomal Dominant Cerebellar Ataxia

Genetic Tests for Autosomal Dominant Cerebellar Ataxia

Anatomical Context for Autosomal Dominant Cerebellar Ataxia

MalaCards organs/tissues related to Autosomal Dominant Cerebellar Ataxia:

40
Brain, Testes, Cerebellum, Eye, Cortex, Spinal Cord, Retina

Publications for Autosomal Dominant Cerebellar Ataxia

Articles related to Autosomal Dominant Cerebellar Ataxia:

(show top 50) (show all 3887)
# Title Authors PMID Year
1
Current concepts in the treatment of hereditary ataxias. 52
27050855 2016
2
Late Diagnosis of Wilson Disease, Initially Presenting as Cerebellar Atrophy Mimicking Spinocerebellar Ataxia, by Multigene Panel Testing. 61
32539308 2020
3
Cortical network dysfunction revealed by magnetoencephalography in carriers of spinocerebellar ataxia 1 or 2 mutation. 61
32408088 2020
4
Long-term follow-up in infantile-onset SCAR18: A case report. 61
32387255 2020
5
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy. 61
32219868 2020
6
Inclusion body myositis in patients with spinocerebellar ataxia types 3 and 6. 61
32576615 2020
7
Frequency and distribution of polyQ disease intermediate-length repeat alleles in healthy Italian population. 61
31940111 2020
8
The Pathophysiology and Clinical Manifestations of Spinocerebellar Ataxia Type 6. 61
32125675 2020
9
Evolution of the vestibular function during head impulses in spinocerebellar ataxia type 6. 61
32067125 2020
10
Deciphering the natural history of SCA7 in children. 61
32558018 2020
11
The TMEM240 Protein, Mutated in SCA21, Is Expressed in Purkinje Cells and Synaptic Terminals. 61
32002801 2020
12
A Variation in FGF14 Is Associated with Downbeat Nystagmus in a Genome-Wide Association Study. 61
32157568 2020
13
Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy. 61
32548275 2020
14
Founder Effects of Spinocerebellar Ataxias in the American Continents and the Caribbean. 61
32086717 2020
15
Trehalose in Machado-Joseph Disease: Safety, Tolerability, and Efficacy. 61
32514820 2020
16
Neuromelanin imaging analyses of the substantia nigra in patients with Machado-Joseph disease. 61
32556403 2020
17
A 5-Year Longitudinal Clinical and Magnetic Resonance Imaging Study in Spinocerebellar Ataxia Type 3. 61
32515873 2020
18
Spinocerebellar Ataxia Type 3: A Case Report and Literature Review. 61
32346735 2020
19
Neurofilaments in spinocerebellar ataxia type 3: blood biomarkers at the preataxic and ataxic stage in humans and mice. 61
32510847 2020
20
Features of speech and swallowing dysfunction in pre-ataxic spinocerebellar ataxia type 2. 61
32527970 2020
21
EMG Rectification Is Detrimental for Identifying Abnormalities in Corticomuscular and Intermuscular Coherence in Spinocerebellar Ataxia Type 2. 61
32500511 2020
22
Novel GDAP2 pathogenic variants cause autosomal recessive spinocerebellar ataxia-27 (SCAR27) in a Chinese family. 61
32437512 2020
23
Ameliorating effect of rovatirelin on the ataxia in rolling mouse Nagoya. 61
32534077 2020
24
Endoplasmic Reticulum Associated Degradation of Spinocerebellar Ataxia-Related CD10 Cysteine Mutant. 61
32545905 2020
25
Efficacy of tDCS for bipolar depression in a patient with spinocerebellar ataxia: A case report. 61
32365262 2020
26
TGM6 L517W is not a pathogenic variant for spinocerebellar ataxia type 35. 61
32426513 2020
27
Minidumbbell structures formed by ATTCT pentanucleotide repeats in spinocerebellar ataxia type 10. 61
32520333 2020
28
Reply: A homozygous GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxia; and Novel GDAP2 pathogenic variants cause autosomal recessive spinocerebellar ataxia-27 (SCAR27) in a Chinese family. 61
32428197 2020
29
Dopaminergic function in spinocerebellar ataxia type 6 patients with and without parkinsonism. 61
32440919 2020
30
Generation of induced pluripotent stem cell line (CSUXHi002-A) from a patient with spinocerebellar ataxia type 1. 61
32335388 2020
31
Nuclear inclusions of pathogenic ataxin-1 induce oxidative stress and perturb the protein synthesis machinery. 61
32145456 2020
32
Impairment of Global Lower Limb Muscle Coactivation During Walking in Cerebellar Ataxias. 61
32410093 2020
33
Synthetic α-Tocopherol, Compared with Natural α-Tocopherol, Downregulates Myelin Genes in Cerebella of Adolescent Ttpa-null Mice. 61
31883016 2020
34
Mechanisms of Regulation and Diverse Activities of Tau-Tubulin Kinase (TTBK) Isoforms. 61
32424773 2020
35
Lactulose and Melibiose Inhibit α-Synuclein Aggregation and Up-Regulate Autophagy to Reduce Neuronal Vulnerability. 61
32429337 2020
36
Volumetric MRI Changes in Spinocerebellar Ataxia (SCA3 and SCA10) Patients. 61
32367276 2020
37
Profiling of mitochondrial genomes in SCA3/MJD patients from mainland China. 61
32087274 2020
38
Generation of human iPS cell line IBCHi002-A from spinocerebellar ataxia type 3/Machado-Joseph disease patient's fibroblasts. 61
32361312 2020
39
The discriminative capacity of CSF β-amyloid 42 and Tau in neurodegenerative diseases in the Chinese population. 61
32142967 2020
40
Association of A Novel Splice Site Mutation in P/Q-Type Calcium Channels with Childhood Epilepsy and Late-Onset Slowly Progressive Non-Episodic Cerebellar Ataxia. 61
32471306 2020
41
The effects of statins on microglial cells to protect against neurodegenerative disorders: A mechanistic review. 61
31846136 2020
42
Hexanucleotide Repeat Expansions in c9FTD/ALS and SCA36 Confer Selective Patterns of Neurodegeneration In Vivo. 61
32375043 2020
43
Chimeric Peptide Species Contribute to Divergent Dipeptide Repeat Pathology in c9ALS/FTD and SCA36. 61
32375063 2020
44
Rapid Diagnosis of Spinocerebellar Ataxia 36 in a three-Generation Family Using Short-Read Whole-Genome Sequencing Data. 61
32407596 2020
45
Ancient founder mutation in RUBCN: a second unrelated family confirms Salih ataxia (SCAR15). 61
32450808 2020
46
Cancer frequency in patients with spinocerebellar ataxia type 10. 61
32497992 2020
47
Teaching NeuroImages: Retinopathy in spinocerebellar ataxia type 3. 61
32332129 2020
48
Automated Detection of Presymptomatic Conditions in Spinocerebellar Ataxia Type 2 Using Monte Carlo Dropout and Deep Neural Network Techniques with Electrooculogram Signals. 61
32471077 2020
49
Testosterone Levels Are Decreased and Associated with Disease Duration in Male Spinocerebellar Ataxia Type 2 Patients. 61
32440846 2020
50
Clinical and Genetic Characterization of Autosomal Recessive Spinocerebellar Ataxia Type 16 (SCAR16) in Taiwan. 61
32367277 2020

Variations for Autosomal Dominant Cerebellar Ataxia

ClinVar genetic disease variations for Autosomal Dominant Cerebellar Ataxia:

6 (show top 50) (show all 512) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ITPR1 NM_002222.6(ITPR1):c.789C>T (p.Phe263=)SNV Conflicting interpretations of pathogenicity 447603 rs369681244 3:4687346-4687346 3:4645662-4645662
2 ITPR1 NM_002222.6(ITPR1):c.4771-8C>TSNV Conflicting interpretations of pathogenicity 447591 rs41304179 3:4752001-4752001 3:4710317-4710317
3 ITPR1 NM_002222.6(ITPR1):c.5502T>C (p.Asp1834=)SNV Conflicting interpretations of pathogenicity 447593 rs371661663 3:4808360-4808360 3:4766676-4766676
4 ITPR1 NM_002222.6(ITPR1):c.6160G>T (p.Ala2054Ser)SNV Conflicting interpretations of pathogenicity 503524 rs373973399 3:4821291-4821291 3:4779607-4779607
5 DYNC1H1 NM_001376.5(DYNC1H1):c.2376C>T (p.Cys792=)SNV Conflicting interpretations of pathogenicity 516911 rs35092963 14:102452938-102452938 14:101986601-101986601
6 DYNC1H1 NM_001376.5(DYNC1H1):c.9531G>A (p.Leu3177=)SNV Conflicting interpretations of pathogenicity 508671 rs531438720 14:102495938-102495938 14:102029601-102029601
7 DYNC1H1 NM_001376.5(DYNC1H1):c.2670G>T (p.Leu890=)SNV Conflicting interpretations of pathogenicity 512339 rs142961295 14:102453921-102453921 14:101987584-101987584
8 DYNC1H1 NM_001376.5(DYNC1H1):c.10833G>C (p.Arg3611=)SNV Conflicting interpretations of pathogenicity 510280 rs35143882 14:102502904-102502904 14:102036567-102036567
9 DYNC1H1 NM_001376.5(DYNC1H1):c.10941G>A (p.Pro3647=)SNV Conflicting interpretations of pathogenicity 514404 rs374214760 14:102504829-102504829 14:102038492-102038492
10 DYNC1H1 NM_001376.5(DYNC1H1):c.12075C>T (p.Leu4025=)SNV Conflicting interpretations of pathogenicity 516470 rs373636519 14:102508044-102508044 14:102041707-102041707
11 DYNC1H1 NM_001376.5(DYNC1H1):c.13782G>A (p.Lys4594=)SNV Conflicting interpretations of pathogenicity 539824 rs147580834 14:102516505-102516505 14:102050168-102050168
12 DYNC1H1 NM_001376.5(DYNC1H1):c.12453A>T (p.Pro4151=)SNV Conflicting interpretations of pathogenicity 585807 rs200375220 14:102509025-102509025 14:102042688-102042688
13 DYNC1H1 NM_001376.5(DYNC1H1):c.4959C>T (p.His1653=)SNV Conflicting interpretations of pathogenicity 668173 14:102470930-102470930 14:102004593-102004593
14 DYNC1H1 NM_001376.5(DYNC1H1):c.6030G>A (p.Pro2010=)SNV Conflicting interpretations of pathogenicity 696864 14:102476232-102476232 14:102009895-102009895
15 DYNC1H1 NM_001376.5(DYNC1H1):c.1296A>G (p.Val432=)SNV Conflicting interpretations of pathogenicity 701851 14:102449781-102449781 14:101983444-101983444
16 DYNC1H1 NM_001376.5(DYNC1H1):c.2328G>A (p.Pro776=)SNV Conflicting interpretations of pathogenicity 734937 14:102452890-102452890 14:101986553-101986553
17 DYNC1H1 NM_001376.5(DYNC1H1):c.1086A>G (p.Thr362=)SNV Conflicting interpretations of pathogenicity 881314 14:102449480-102449480 14:101983143-101983143
18 ITPR1 NM_002222.6(ITPR1):c.3801C>T (p.Phe1267=)SNV Conflicting interpretations of pathogenicity 752223 3:4732872-4732872 3:4691188-4691188
19 DYNC1H1 NM_001376.5(DYNC1H1):c.11056-10A>GSNV Conflicting interpretations of pathogenicity 761757 14:102505025-102505025 14:102038688-102038688
20 DYNC1H1 NM_001376.5(DYNC1H1):c.11873G>T (p.Gly3958Val)SNV Conflicting interpretations of pathogenicity 833984 14:102506942-102506942 14:102040605-102040605
21 DYNC1H1 NM_001376.5(DYNC1H1):c.7821C>T (p.Ser2607=)SNV Conflicting interpretations of pathogenicity 883957 14:102483309-102483309 14:102016972-102016972
22 DYNC1H1 NM_001376.5(DYNC1H1):c.7431C>T (p.Pro2477=)SNV Conflicting interpretations of pathogenicity 882014 14:102482381-102482381 14:102016044-102016044
23 DYNC1H1 NM_001376.5(DYNC1H1):c.13181C>T (p.Thr4394Met)SNV Conflicting interpretations of pathogenicity 128930 rs149300055 14:102514328-102514328 14:102047991-102047991
24 DYNC1H1 NM_001376.5(DYNC1H1):c.12102+6G>ASNV Conflicting interpretations of pathogenicity 128923 rs377669980 14:102508077-102508077 14:102041740-102041740
25 SPTBN2 NM_006946.3(SPTBN2):c.1719C>T (p.His573=)SNV Conflicting interpretations of pathogenicity 194240 rs148207416 11:66473243-66473243 11:66705772-66705772
26 ITPR1 NM_002222.6(ITPR1):c.1962-3T>CSNV Conflicting interpretations of pathogenicity 194942 rs200335594 3:4712410-4712410 3:4670726-4670726
27 DYNC1H1 NM_001376.5(DYNC1H1):c.5001C>T (p.Asn1667=)SNV Conflicting interpretations of pathogenicity 195810 rs117199211 14:102470972-102470972 14:102004635-102004635
28 ITPR1 NM_002222.6(ITPR1):c.5076C>T (p.Asn1692=)SNV Conflicting interpretations of pathogenicity 197067 rs61757111 3:4774816-4774816 3:4733132-4733132
29 DYNC1H1 NM_001376.5(DYNC1H1):c.8478A>G (p.Ala2826=)SNV Conflicting interpretations of pathogenicity 197458 rs117846737 14:102486364-102486364 14:102020027-102020027
30 DYNC1H1 NM_001376.5(DYNC1H1):c.4515G>A (p.Ser1505=)SNV Conflicting interpretations of pathogenicity 210870 rs186932188 14:102467991-102467991 14:102001654-102001654
31 DYNC1H1 NM_001376.5(DYNC1H1):c.5298G>T (p.Leu1766=)SNV Conflicting interpretations of pathogenicity 210871 rs149395439 14:102471438-102471438 14:102005101-102005101
32 DYNC1H1 NM_001376.5(DYNC1H1):c.5985C>T (p.Ala1995=)SNV Conflicting interpretations of pathogenicity 210873 rs140841480 14:102476187-102476187 14:102009850-102009850
33 DYNC1H1 NM_001376.5(DYNC1H1):c.7203A>C (p.Lys2401Asn)SNV Conflicting interpretations of pathogenicity 210875 rs150888094 14:102481630-102481630 14:102015293-102015293
34 DYNC1H1 NM_001376.5(DYNC1H1):c.2719-6C>TSNV Conflicting interpretations of pathogenicity 210868 rs199763298 14:102455034-102455034 14:101988697-101988697
35 DYNC1H1 NM_001376.5(DYNC1H1):c.7458G>T (p.Leu2486=)SNV Conflicting interpretations of pathogenicity 210878 rs17541165 14:102482408-102482408 14:102016071-102016071
36 DYNC1H1 NM_001376.5(DYNC1H1):c.13440C>T (p.Ser4480=)SNV Conflicting interpretations of pathogenicity 210866 rs150286673 14:102515844-102515844 14:102049507-102049507
37 DYNC1H1 NM_001376.5(DYNC1H1):c.5971G>A (p.Asp1991Asn)SNV Conflicting interpretations of pathogenicity 239001 rs151001016 14:102474668-102474668 14:102008331-102008331
38 DYNC1H1 NM_001376.5(DYNC1H1):c.11596-7G>ASNV Conflicting interpretations of pathogenicity 238989 rs375593873 14:102505968-102505968 14:102039631-102039631
39 DYNC1H1 NM_001376.5(DYNC1H1):c.13088A>C (p.Lys4363Thr)SNV Conflicting interpretations of pathogenicity 238994 rs141925609 14:102514235-102514235 14:102047898-102047898
40 DYNC1H1 NM_001376.5(DYNC1H1):c.13707G>A (p.Thr4569=)SNV Conflicting interpretations of pathogenicity 238995 rs138571942 14:102516430-102516430 14:102050093-102050093
41 DYNC1H1 NM_001376.5(DYNC1H1):c.7420G>A (p.Ala2474Thr)SNV Conflicting interpretations of pathogenicity 246234 rs766837403 14:102482370-102482370 14:102016033-102016033
42 DYNC1H1 NM_001376.5(DYNC1H1):c.7192C>T (p.Arg2398Cys)SNV Conflicting interpretations of pathogenicity 285546 rs141525226 14:102481619-102481619 14:102015282-102015282
43 DYNC1H1 NM_001376.5(DYNC1H1):c.13764G>A (p.Thr4588=)SNV Conflicting interpretations of pathogenicity 287210 rs35079638 14:102516487-102516487 14:102050150-102050150
44 ITPR1 NM_002222.6(ITPR1):c.3822C>T (p.Asn1274=)SNV Conflicting interpretations of pathogenicity 289460 rs182840163 3:4732893-4732893 3:4691209-4691209
45 ITPR1 NM_002222.6(ITPR1):c.3385A>G (p.Met1129Val)SNV Conflicting interpretations of pathogenicity 345726 rs199698357 3:4725441-4725441 3:4683757-4683757
46 ITPR1 NM_002222.6(ITPR1):c.6910G>A (p.Ala2304Thr)SNV Conflicting interpretations of pathogenicity 345760 rs201144431 3:4842276-4842276 3:4800592-4800592
47 ITPR1 NM_002222.6(ITPR1):c.255C>T (p.Asp85=)SNV Conflicting interpretations of pathogenicity 345545 rs367814655 3:4669538-4669538 3:4627854-4627854
48 ITPR1 NM_002222.6(ITPR1):c.1435G>A (p.Val479Ile)SNV Conflicting interpretations of pathogenicity 345684 rs41289628 3:4704816-4704816 3:4663132-4663132
49 ITPR1 NM_002222.6(ITPR1):c.508C>T (p.Arg170Ter)SNV Conflicting interpretations of pathogenicity 345564 rs886058579 3:4683918-4683918 3:4642234-4642234
50 ITPR1 NM_002222.6(ITPR1):c.3483G>A (p.Val1161=)SNV Conflicting interpretations of pathogenicity 345728 rs764767201 3:4726021-4726021 3:4684337-4684337

Expression for Autosomal Dominant Cerebellar Ataxia

Search GEO for disease gene expression data for Autosomal Dominant Cerebellar Ataxia.

Pathways for Autosomal Dominant Cerebellar Ataxia

Pathways related to Autosomal Dominant Cerebellar Ataxia according to KEGG:

36
# Name Kegg Source Accession
1 Spinocerebellar ataxia hsa05017
2 Long-term depression hsa04730
3 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
Show member pathways
12.7 PRKCG PPP2R2B FGF14 ATXN7 ATXN3 ATXN2
2
Show member pathways
12.16 ATXN7 ATXN3 ATXN2 ATXN10 ATXN1
3 11.92 PRKCG PPP2R2B KCNC3 CACNA1A
4 11.53 TBP SPTBN2 PRKCG KCNC3 FGF14 CACNA1A

GO Terms for Autosomal Dominant Cerebellar Ataxia

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

# Name GO ID Score Top Affiliating Genes
1 nuclear matrix GO:0016363 9.13 ATXN7 ATXN3 ATXN1
2 nuclear inclusion body GO:0042405 8.62 ATXN3 ATXN1

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

# Name GO ID Score Top Affiliating Genes
1 microtubule cytoskeleton organization GO:0000226 9.13 TTBK2 ATXN7 ATXN3
2 response to pain GO:0048265 8.62 PRKCG CACNA1A

Sources for Autosomal Dominant Cerebellar Ataxia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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