SCA
MCID: ATS308
MIFTS: 64

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 20 58 6 15
Spinocerebellar Ataxia 12 73 20 36 6
Ataxia, Spinocerebellar 39 70
Adca 20 58
Autosomal Dominant Spinocerebellar Ataxia 58
Spinocerebellar Ataxias 54
Sca 20

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


Summaries for Autosomal Dominant Cerebellar Ataxia

GARD : 20 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 8 and spinocerebellar ataxia 7, and has symptoms including ataxia and cerebellar ataxia. An important gene associated with Autosomal Dominant Cerebellar Ataxia is POLG (DNA Polymerase Gamma, Catalytic Subunit), and among its related pathways/superpathways are Spinocerebellar ataxia and Long-term depression. The drugs TA 0910 and Nootropic Agents have been mentioned in the context of this disorder. Affiliated tissues include cerebellum, eye and tongue, and related phenotypes are progressive cerebellar ataxia and abnormal pyramidal sign

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 : 73 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 609)
# Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia, autosomal recessive 8 33.5 CACNA1A ATXN7 AFG3L2
2 spinocerebellar ataxia 7 33.5 SCAANT1 ATXN8OS ATXN7 ATXN3 ATXN2 ATXN1
3 spinocerebellar ataxia, autosomal recessive 14 33.2 CACNA1A AFG3L2
4 autosomal dominant cerebellar ataxia type iii 33.0 TTBK2 CACNA1A
5 spinocerebellar ataxia 17 33.0 TBP PPP2R2B FGF14 CACNA1A ATXN8OS ATXN7
6 spinocerebellar ataxia 12 33.0 TBP PPP2R2B CACNA1A ATXN8OS ATXN7 ATXN3
7 spinocerebellar ataxia 6 32.9 TBP PRKCG PPP2R2B CACNA1A ATXN8OS ATXN7
8 spinocerebellar ataxia 10 32.9 PPP2R2B CACNA1A ATXN8OS ATXN7 ATXN3 ATXN2
9 spinocerebellar ataxia 15 32.9 TTBK2 PRKCG ITPR1 ATXN10 ATXN1 AFG3L2
10 machado-joseph disease 32.8 TBP PPP2R2B CACNA1A ATXN8OS ATXN7 ATXN3
11 spinocerebellar ataxia 8 32.8 SCAANT1 PPP2R2B ATXN8OS ATXN7 ATXN2 ATXN10
12 spinocerebellar ataxia 1 32.8 TBP PRKCG PPP2R2B CACNA1A ATXN8OS ATXN7
13 dentatorubral-pallidoluysian atrophy 32.8 TTBK2 TBP PRKCG PPP2R2B POLG ITPR1
14 spinocerebellar ataxia 21 32.8 TTBK2 FGF14 AFG3L2
15 spinocerebellar ataxia 2 32.7 ITPR1 CACNA1A ATXN8OS ATXN7 ATXN3 ATXN2
16 spinocerebellar ataxia 30 32.7 TTBK2 SCA30 PPP2R2B ITPR1 FGF14 CACNA1A
17 spinocerebellar ataxia 31 32.6 CACNA1A ATXN10
18 spinocerebellar ataxia 25 32.6 TTBK2 SCA25
19 spinocerebellar ataxia 18 32.6 SCA18 AFG3L2
20 friedreich ataxia 32.6 TBP PPP2R2B CACNA1A ATXN8OS ATXN3 ATXN2
21 cerebellar ataxia type 41 32.6 PRKCG ITPR1 ATXN1 AFG3L2
22 cerebellar ataxia type 9 32.6 PPP2R2B FGF14 ATXN7 ATXN10
23 cerebellar ataxia type 48 32.5 PRKCG ATXN1 AFG3L2
24 spinocerebellar ataxia 14 32.5 PRKCG CACNA1A
25 spinocerebellar ataxia 36 32.5 ATXN8OS ATXN2 ATXN10
26 spinocerebellar ataxia 11 32.5 TTBK2 ATXN10
27 spinocerebellar ataxia 37 32.3 ATXN8OS ATXN10
28 hereditary ataxia 31.8 TTBK2 TBP PRKCG PPP2R2B ITPR1 FGF14
29 kearns-sayre syndrome 31.5 POLG CACNA1A ATXN7 AFG3L2
30 restless legs syndrome 31.4 TBP CACNA1A ATXN7 ATXN3 ATXN2 ATXN1
31 dystonia 31.3 TBP PRKCG POLG LRRK2 CACNA1A ATXN7
32 olivopontocerebellar atrophy 31.3 CACNA1A ATXN7 ATXN2
33 huntington disease 31.2 TBP ITPR1 ATXN7 ATXN3 ATXN1
34 3-methylglutaconic aciduria, type iii 31.2 POLG LRRK2 ATXN7 AFG3L2
35 spinocerebellar atrophy 31.2 POLG LRRK2
36 spinocerebellar degeneration 31.1 ATXN3 ATXN2 ATXN1
37 dementia 31.1 LRRK2 CACNA1A ATXN3 ATXN2 ATXN1
38 cerebellar disease 31.0 TTBK2 TBP PRKCG PPP2R2B POLG ITPR1
39 episodic ataxia 31.0 PRKCG PPP2R2B ITPR1 FGF14 CACNA1A ATXN7
40 choreatic disease 31.0 TBP CACNA1A ATXN7 ATXN3 ATXN2 ATXN1
41 episodic ataxia, type 2 31.0 PRKCG ITPR1 CACNA1A ATXN7 ATXN1
42 parkinson disease, late-onset 30.9 TTBK2 TBP PPP2R2B POLG LRRK2 CACNA1A
43 movement disease 30.9 TBP LRRK2 CACNA1A ATXN3 ATXN2
44 early myoclonic encephalopathy 30.7 POLG CACNA1A AFG3L2
45 fragile x-associated tremor/ataxia syndrome 30.7 PPP2R2B ATXN8OS ATXN7 ATXN2 ATXN10
46 myotonic dystrophy 2 30.6 PPP2R2B ATXN8OS ATXN10
47 familial adult myoclonic epilepsy 30.6 CACNA1A ATXN8OS ATXN10
48 myotonic dystrophy 1 30.6 PPP2R2B ATXN8OS ATXN7 ATXN3 ATXN10
49 episodic ataxia, type 6 30.4 CACNA1A ATXN7
50 cerebellar ataxia, deafness, and narcolepsy, autosomal dominant 11.9

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 top 50) (show all 72)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 progressive cerebellar ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002073
2 abnormal pyramidal sign 58 31 frequent (33%) Frequent (79-30%) HP:0007256
3 gait disturbance 58 31 frequent (33%) Frequent (79-30%) HP:0001288
4 muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0001324
5 hyporeflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001265
6 polyneuropathy 58 31 frequent (33%) Frequent (79-30%) HP:0001271
7 hyperactive deep tendon reflexes 58 31 frequent (33%) Frequent (79-30%) HP:0006801
8 paraparesis 58 31 frequent (33%) Frequent (79-30%) HP:0002385
9 hand tremor 58 31 frequent (33%) Frequent (79-30%) HP:0002378
10 sensory axonal neuropathy 58 31 frequent (33%) Frequent (79-30%) HP:0003390
11 cns demyelination 58 31 frequent (33%) Frequent (79-30%) HP:0007305
12 long-tract signs 58 31 frequent (33%) Frequent (79-30%) HP:0002423
13 spasticity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001257
14 ptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000508
15 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
16 behavioral abnormality 58 31 occasional (7.5%) Occasional (29-5%) HP:0000708
17 sensorineural hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000407
18 skeletal muscle atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003202
19 hyperkeratosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000962
20 areflexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001284
21 proptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000520
22 intellectual disability, moderate 58 31 occasional (7.5%) Occasional (29-5%) HP:0002342
23 dysgraphia 58 31 occasional (7.5%) Occasional (29-5%) HP:0010526
24 pes cavus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001761
25 erythema 58 31 occasional (7.5%) Occasional (29-5%) HP:0010783
26 ophthalmoparesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000597
27 impaired vibratory sensation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002495
28 impaired proprioception 58 31 occasional (7.5%) Occasional (29-5%) HP:0010831
29 rigidity 58 31 occasional (7.5%) Occasional (29-5%) HP:0002063
30 choreoathetosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001266
31 horizontal supranuclear gaze palsy 58 31 occasional (7.5%) Occasional (29-5%) HP:0007817
32 macular degeneration 58 31 occasional (7.5%) Occasional (29-5%) HP:0000608
33 dementia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000726
34 pigmentary retinopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000580
35 visual loss 58 31 occasional (7.5%) Occasional (29-5%) HP:0000572
36 akinesia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002304
37 parkinsonism 58 31 occasional (7.5%) Occasional (29-5%) HP:0001300
38 orofacial dyskinesia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002310
39 pseudobulbar paralysis 58 31 occasional (7.5%) Occasional (29-5%) HP:0007024
40 sensorimotor neuropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0007141
41 eyelid myoclonias 58 31 occasional (7.5%) Occasional (29-5%) HP:0011168
42 slow saccadic eye movements 58 31 occasional (7.5%) Occasional (29-5%) HP:0000514
43 postural tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0002174
44 resting tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0002322
45 tongue fasciculations 58 31 occasional (7.5%) Occasional (29-5%) HP:0001308
46 tongue atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0012473
47 laryngeal dystonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0012049
48 distal peripheral sensory neuropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0007067
49 hypermetric saccades 58 31 occasional (7.5%) Occasional (29-5%) HP:0007338
50 dense calcifications in the cerebellar dentate nucleus 58 31 occasional (7.5%) Occasional (29-5%) HP:0002461

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 9.93 AFG3L2 ATXN1 ATXN2 ATXN3 ATXN7 CACNA1A
2 muscle MP:0005369 9.5 AFG3L2 ATXN1 ATXN7 CACNA1A FGF14 ITPR1
3 nervous system MP:0003631 9.44 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 all 38)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 TA 0910 Phase 4
2 Nootropic Agents Phase 4
3
Riluzole Approved, Investigational Phase 2, Phase 3 1744-22-5 5070
4
Lithium carbonate Approved Phase 2, Phase 3 554-13-2
5
Glutamic acid Approved, Nutraceutical Phase 3 56-86-0 33032
6 Protective Agents Phase 2, Phase 3
7 Excitatory Amino Acid Antagonists Phase 2, Phase 3
8 Neuroprotective Agents Phase 2, Phase 3
9 Neurotransmitter Agents Phase 3
10 Anticonvulsants Phase 2, Phase 3
11 Antidepressive Agents Phase 2, Phase 3
12 Psychotropic Drugs Phase 2, Phase 3
13 Hormones Phase 3
14 Thyrotropin-Releasing Hormone Phase 3
15
Varenicline Approved, Investigational Phase 2 249296-44-4 5310966
16
Menthol Approved Phase 2 2216-51-5 16666
17 Immunoglobulins Phase 2
18 Immunologic Factors Phase 2
19 Antibodies Phase 2
20 Immunoglobulins, Intravenous Phase 2
21 Rho(D) Immune Globulin Phase 2
22 gamma-Globulins Phase 2
23 Nicotinic Agonists Phase 2
24 Cholinergic Agents Phase 2
25
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 1 303-98-0 5281915
26 Pharmaceutical Solutions Phase 1
27 Trace Elements Phase 1
28 Nutrients Phase 1
29 Vitamins Phase 1
30 Ubiquinone Phase 1
31 Micronutrients Phase 1
32
4-Aminopyridine Approved 504-24-5 1727
33
tannic acid Approved 1401-55-4
34
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
35
Dopamine Approved 62-31-7, 51-61-6 681
36 Potassium Channel Blockers
37 Omega 3 Fatty Acid
38 Dopamine agonists

Interventional clinical trials:

(show top 50) (show all 74)
# 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 Riluzole in Patients With Spinocerebellar Ataxia Type 7: a Randomized , Double-blind, Placebo-controlled Pilot Trial With a Lead in Phase Unknown status NCT03660917 Phase 2, Phase 3 Riluzole;Placebo
3 Multicenter, Randomized, Double Blind, Placebo Controlled Clinical Trial With Riluzole in Spinocerebellar Ataxia Type 2 Unknown status NCT03347344 Phase 3 Riluzole;Placebo
4 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
5 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
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 An Extension Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) Completed NCT01970111 Phase 3 KPS-0373, High dose;KPS-0373, Low dose
8 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
9 An Additional Phase III Confirmatory Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) Completed NCT02889302 Phase 3 KPS-0373;Placebo
10 An Open Pilot Trial of BHV-4157 in Adult Subjects With Cerebellar Ataxia Active, not recruiting NCT03408080 Phase 3 BHV-4157
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;Troriluzole
12 A Phase III, Long-Term, Randomized, Double-blind, Placebo-controlled Trial of Troriluzole in Adult Subjects With Spinocerebellar Ataxia. Active, not recruiting NCT03701399 Phase 3 troriluzole;Placebos
13 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
14 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
15 Safety and Efficacy of Intravenous Immune Globulin in Treating Spinocerebellar Ataxia Completed NCT01350440 Phase 2
16 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
17 Randomized, Placebo-controlled Trial to Test Safety, Tolerability and Efficacy of Lithium Carbonate in Spinocerebellar Ataxia 2 Completed NCT00998634 Phase 2 LITHIUM CARBONATE
18 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
19 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)
20 An Open-label, Phase II Study of KPS-0373 in Patients With SCD Completed NCT00863538 Phase 2 KPS-0373
21 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
22 A Clinical Research on the Safety/Efficacy of Umbilical Cord Mesenchymal Stem Cells Therapy for Patients With Spinocerebellar Ataxia Not yet recruiting NCT03378414 Phase 2
23 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
24 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
25 An Open-label Trial of Intravenous Immune Globulin (IVIG)in Treating Spinocerebellar Ataxias Unknown status NCT02287064 Phase 1 Intravenous Immune Globulin (IVIG)
26 Pilot Study of Tolerability of Lithium Therapy in Patients With Spinocerebellar Ataxia Type I (SCA1) Completed NCT00683943 Phase 1 Lithium Carbonate
27 Safety and Tolerability of Coenzyme Q10 in Adult-Onset Sporadic Spinocerebellar Ataxia Completed NCT00957216 Phase 1 Placebo (sugar pill);Coenzyme Q10
28 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
29 Natural History, Genetic Bases and Phenotype-genotype Correlations in Autosomal Dominant Spinocerebellar Degenerations Unknown status NCT00136630
30 Slowing Down Disease Progression in Premanifest SCA: a Piloting Interventional Exergame Trial Unknown status NCT02867969
31 Machado-Joseph Disease in Israel: Clinical Phenotype and Genotype of a Jew Yemenite Subpopulation Unknown status NCT02175290
32 Identification of Biomarkers in Patients With Autosomal Dominant Cerebellar Ataxia Completed NCT01470729
33 Therapeutic Effect of Dalfampridine on Gait Incoordination in Spinocerebellar Ataxias- A Randomized, Double-blinded, Placebo-controlled, Crossover Clinical Trial Completed NCT01811706 Dalfampridine;Placebo
34 Utility Of Home Based Gait Monitoring, Performance Scores And Functional Visual Assessment In Spinocerebellar Ataxias (SCA) Completed NCT00654251
35 Integrative Medicine and Tai-chi in Clinical Status of Spinocerebellar Ataxia Completed NCT03687190 conventional medicine
36 Clinical Effects of Oral Trehalose In Patients With Spinocerebellar Ataxia 3: A Pilot Study Completed NCT04426149
37 Pathogenic Mechanism of Spinocerebellar Ataxia Type 10 (SCA10) Completed NCT00004306
38 Translating Molecular Pathology Into a Therapeutic Strategy in SCA38, a Newly Identified Form of Spinocerebellar Ataxia Completed NCT03109626
39 Neuromuscular Electrical Stimulation on Median Nerve Facilitates Low Motor Cortex Excitability in Human With Spinocerebellar Ataxia Completed NCT02103075
40 Characterization of the Parkinsonism and Other Non-ataxia Spectrum and Striatal Dopaminergic Degeneration in Spinocerebellar Ataxia Type 6 Completed NCT01934998
41 Dysmetria in Motor Function in SCA: Mechanisms and Rehabilitation Completed NCT02488031
42 Transcranial Magnetic Stimulation (TMS) in Spino-Cerebellar Ataxia Completed NCT01975909
43 Preliminary Study of the Scale To Assess Ataxia and Neurologic Dysfunction (STAND) Completed NCT02179333
44 Coordination Training With Complete Body Video Games in Children and Adults With Degenerative Ataxias Completed NCT02874911
45 The Effect of Whole Body Vibration Training on Neuromuscular Property in Individuals With Ataxia Completed NCT01983631
46 Rehabilitative Trial With Cerebello-Spinal tDCS for the Treatment of Neurodegenerative Ataxia Completed NCT03120013
47 Effects of Aerobic Exercise on Degenerative Cerebellar Disease Completed NCT03745248
48 Cerebello-Spinal tDCS as Rehabilitative Intervention in Neurodegenerative Ataxias: a Randomized, Double-blind, Sham-controlled Trial Followed by an Open-label Phase Completed NCT04153110
49 Effect of Repetitive Transcranial Magnetic Stimulation With Intensive Physical Therapy in Cerebellar Ataxia: A Pilot Study Completed NCT04595578
50 The Investigation of the Pre-movement Facilitation of Agonist-antagonist Muscles and the Effect of the Feedforward Rehabilitation in Individuals With Hypermetria Completed NCT01983670

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
Cerebellum, Eye, Tongue, Cortex, Skeletal Muscle, Spinal Cord, Brain

Publications for Autosomal Dominant Cerebellar Ataxia

Articles related to Autosomal Dominant Cerebellar Ataxia:

(show top 50) (show all 4123)
# Title Authors PMID Year
1
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. 6
28492532 2017
2
Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood. 6
24091540 2013
3
Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum. 6
21880868 2011
4
Purification and functional characterization of human mitochondrial DNA polymerase gamma harboring disease mutations. 6
20176107 2010
5
A variable neurodegenerative phenotype with polymerase gamma mutation. 6
19762913 2009
6
R964C mutation of DNA polymerase gamma imparts increased stavudine toxicity by decreasing nucleoside analog discrimination and impairing polymerase activity. 6
19364868 2009
7
Molecular and clinical genetics of mitochondrial diseases due to POLG mutations. 6
18546365 2008
8
Analysis of Lrrk2 R1628P as a risk factor for Parkinson's disease. 6
18412265 2008
9
LRRK2 Parkinson Disease 6
20301387 2006
10
Current concepts in the treatment of hereditary ataxias. 20
27050855 2016
11
Localized cerebral energy failure in DNA polymerase gamma-associated encephalopathy syndromes. 54 61
20400524 2010
12
Evidence against haploinsuffiency of human ataxin 10 as a cause of spinocerebellar ataxia type 10. 54 61
19936807 2010
13
High frequency of Machado-Joseph disease identified in southeastern Chinese kindreds with spinocerebellar ataxia. 54 61
20334689 2010
14
SCA17 repeat expansion: mildly expanded CAG/CAA repeat alleles in neurological disorders and the functional implications. 54 61
20004653 2010
15
TDP1 serine 81 promotes interaction with DNA ligase IIIalpha and facilitates cell survival following DNA damage. 61 54
20009512 2010
16
[Studies on the CAG repeat expansion in patients with hereditary spinocerebellar ataxia from Chinese Han]. 54 61
19953482 2009
17
Alu-mediated acquisition of unstable ATTCT pentanucleotide repeats in the human ATXN10 gene. 54 61
19651850 2009
18
Mutation analysis of the TATA box-binding protein (TBP) gene in Chinese Han patients with spinocerebellar ataxia. 54 61
19581089 2009
19
Protein kinase C gamma, a protein causative for dominant ataxia, negatively regulates nuclear import of recessive-ataxia-related aprataxin. 61 54
19561170 2009
20
Neuropsychological performance in patients with POLG1 mutations and the syndrome of mitochondrial spinocerebellar ataxia and epilepsy. 54 61
19435586 2009
21
Hypergonadotropic hypogonadism in spinocerebellar ataxia type 2: a case report. 54 61
19473475 2009
22
Expansion of CAG repeats in the spinocerebellar ataxia type 1 (SCA1) gene in idiopathic oligozoospermia patients. 54 61
19597981 2009
23
Utilizing linkage disequilibrium information from Indian Genome Variation Database for mapping mutations: SCA12 case study. 61 54
19417544 2009
24
Expansion of the phenotypic spectrum of SCA14 caused by the Gly128Asp mutation in PRKCG. 61 54
18986758 2009
25
FGF14 regulates the intrinsic excitability of cerebellar Purkinje neurons. 54 61
18930825 2009
26
[Molecular and genetic analysis of spinocerebellar ataxia type 10 (SCA10)]. 61 54
19198092 2008
27
Screening for premutation in the FMR1 gene in male patients suspected of spinocerebellar ataxia. 61 54
19235102 2008
28
SCA8 mRNA expression suggests an antisense regulation of KLHL1 and correlates to SCA8 pathology. 61 54
18708037 2008
29
PKC gamma mutations in spinocerebellar ataxia type 14 affect C1 domain accessibility and kinase activity leading to aberrant MAPK signaling. 54 61
18577575 2008
30
Tyrosyl-DNA phosphodiesterase as a target for anticancer therapy. 61 54
18473723 2008
31
Searching for mutation in the JPH3, ATN1 and TBP genes in Polish patients suspected of Huntington's disease and without mutation in the IT15 gene. 61 54
18651325 2008
32
Trinucleotide expansions in the SCA7 gene in a large family with spinocerebellar ataxia and craniocervical dystonia. 54 61
18325672 2008
33
[Molecular and genetic analysis of spinocerebellar ataxia type 10 (SCA10)]. 54 61
18386626 2008
34
Premutations in the FMR1 gene are uncommon in men undergoing genetic testing for spinocerebellar ataxia. 54 61
18363164 2008
35
Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11. 54 61
18037885 2007
36
Unstable spinocerebellar ataxia type 10 (ATTCT*(AGAAT) repeats are associated with aberrant replication at the ATX10 locus and replication origin-dependent expansion at an ectopic site in human cells. 61 54
17846122 2007
37
Protection from ataxia-linked apoptosis by gap junction inhibitors. 54 61
17822669 2007
38
Spinocerebellar ataxia type 17 (SCA17): oculomotor phenotype and clinical characterization of 15 Italian patients. 54 61
17934876 2007
39
TDP1 facilitates repair of ionizing radiation-induced DNA single-strand breaks. 54 61
17600775 2007
40
The neurodegenerative disease protein ataxin-1 antagonizes the neuronal survival function of myocyte enhancer factor-2. 54 61
17646162 2007
41
Another mutation in cysteine 131 in protein kinase C gamma as a cause of spinocerebellar ataxia type 14. 54 61
17562946 2007
42
Anticipation and intergenerational repeat instability in spinocerebellar ataxia type 17. 54 61
17474109 2007
43
PRKCG mutation (SCA-14) causing a Ramsay Hunt phenotype. 61 54
17343273 2007
44
DNA single-strand break repair and spinocerebellar ataxia with axonal neuropathy-1. 54 61
17045754 2007
45
Mechanisms of ataxin-3 misfolding and fibril formation: kinetic analysis of a disease-associated polyglutamine protein. 61 54
17362987 2007
46
Case of spinocerebellar ataxia type 17 (SCA17) associated with only 41 repeats of the TATA-binding protein (TBP) gene. 61 54
17149738 2007
47
Hereditary ataxia SCAN1 cells are defective for the repair of transcription-dependent topoisomerase I cleavage complexes. 61 54
16935573 2006
48
Structure validation of the Josephin domain of ataxin-3: conclusive evidence for an open conformation. 54 61
17096206 2006
49
Regulation of retrotranslocation by p97-associated deubiquitinating enzyme ataxin-3. 61 54
17000876 2006
50
CHIP protects from the neurotoxicity of expanded and wild-type ataxin-1 and promotes their ubiquitination and degradation. 54 61
16831871 2006

Variations for Autosomal Dominant Cerebellar Ataxia

ClinVar genetic disease variations for Autosomal Dominant Cerebellar Ataxia:

6 (show top 50) (show all 514)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LRRK2 NM_198578.4(LRRK2):c.4883G>C (p.Arg1628Pro) SNV Pathogenic 39198 rs33949390 GRCh37: 12:40713845-40713845
GRCh38: 12:40320043-40320043
2 POLG NM_001126131.2(POLG):c.2890C>T (p.Arg964Cys) SNV Pathogenic 206537 rs201477273 GRCh37: 15:89864088-89864088
GRCh38: 15:89320857-89320857
3 DYNC1H1 NM_001376.5(DYNC1H1):c.10833G>C (p.Arg3611=) SNV Uncertain significance 510280 rs35143882 GRCh37: 14:102502904-102502904
GRCh38: 14:102036567-102036567
4 SPTBN2 NM_006946.3(SPTBN2):c.6797C>T (p.Ala2266Val) SNV Uncertain significance 305526 rs145891813 GRCh37: 11:66454564-66454564
GRCh38: 11:66687093-66687093
5 SPTBN2 NM_006946.3(SPTBN2):c.2064C>T (p.Gly688=) SNV Uncertain significance 305577 rs376219874 GRCh37: 11:66472683-66472683
GRCh38: 11:66705212-66705212
6 DYNC1H1 NM_001376.5(DYNC1H1):c.9531G>A (p.Leu3177=) SNV Uncertain significance 508671 rs531438720 GRCh37: 14:102495938-102495938
GRCh38: 14:102029601-102029601
7 DYNC1H1 NM_001376.5(DYNC1H1):c.4959C>T (p.His1653=) SNV Uncertain significance 668173 rs773425996 GRCh37: 14:102470930-102470930
GRCh38: 14:102004593-102004593
8 DYNC1H1 NM_001376.5(DYNC1H1):c.10896C>A (p.Pro3632=) SNV Uncertain significance 389365 rs200903643 GRCh37: 14:102502967-102502967
GRCh38: 14:102036630-102036630
9 DYNC1H1 NM_001376.5(DYNC1H1):c.2376C>T (p.Cys792=) SNV Uncertain significance 516911 rs35092963 GRCh37: 14:102452938-102452938
GRCh38: 14:101986601-101986601
10 DYNC1H1 NM_001376.5(DYNC1H1):c.7127A>G (p.Asn2376Ser) SNV Uncertain significance 246515 rs775274723 GRCh37: 14:102481554-102481554
GRCh38: 14:102015217-102015217
11 DYNC1H1 NM_001376.5(DYNC1H1):c.12102+6G>A SNV Uncertain significance 128923 rs377669980 GRCh37: 14:102508077-102508077
GRCh38: 14:102041740-102041740
12 DYNC1H1 NM_001376.5(DYNC1H1):c.5050G>A (p.Val1684Ile) SNV Uncertain significance 312629 rs781664182 GRCh37: 14:102471099-102471099
GRCh38: 14:102004762-102004762
13 DYNC1H1 NM_001376.5(DYNC1H1):c.9155A>G (p.Lys3052Arg) SNV Uncertain significance 863131 GRCh37: 14:102494062-102494062
GRCh38: 14:102027725-102027725
14 ITPR1 NM_002222.6(ITPR1):c.3801C>T (p.Phe1267=) SNV Uncertain significance 752223 rs567943387 GRCh37: 3:4732872-4732872
GRCh38: 3:4691188-4691188
15 ITPR1 NM_002222.6(ITPR1):c.6160G>T (p.Ala2054Ser) SNV Uncertain significance 503524 rs373973399 GRCh37: 3:4821291-4821291
GRCh38: 3:4779607-4779607
16 DYNC1H1 NM_001376.5(DYNC1H1):c.11460+4G>A SNV Uncertain significance 312652 rs201518717 GRCh37: 14:102505595-102505595
GRCh38: 14:102039258-102039258
17 DYNC1H1 NM_001376.5(DYNC1H1):c.9178C>T (p.Arg3060Cys) SNV Uncertain significance 246376 rs773658296 GRCh37: 14:102494085-102494085
GRCh38: 14:102027748-102027748
18 DYNC1H1 NM_001376.5(DYNC1H1):c.7193G>A (p.Arg2398His) SNV Uncertain significance 574494 rs912429154 GRCh37: 14:102481620-102481620
GRCh38: 14:102015283-102015283
19 DYNC1H1 NM_001376.5(DYNC1H1):c.13157A>G (p.Asn4386Ser) SNV Uncertain significance 539755 rs201575292 GRCh37: 14:102514304-102514304
GRCh38: 14:102047967-102047967
20 ITPR1 NM_002222.6(ITPR1):c.5502T>C (p.Asp1834=) SNV Uncertain significance 447593 rs371661663 GRCh37: 3:4808360-4808360
GRCh38: 3:4766676-4766676
21 ITPR1 NM_001378452.1(ITPR1):c.5725+15G>A SNV Uncertain significance 901334 GRCh37: 3:4808409-4808409
GRCh38: 3:4766725-4766725
22 ITPR1 NM_001378452.1(ITPR1):c.5875G>A (p.Asp1959Asn) SNV Uncertain significance 901335 GRCh37: 3:4810344-4810344
GRCh38: 3:4768660-4768660
23 ITPR1 NM_001378452.1(ITPR1):c.1413-15G>A SNV Uncertain significance 901620 GRCh37: 3:4704734-4704734
GRCh38: 3:4663050-4663050
24 ITPR1 NM_001378452.1(ITPR1):c.*243G>A SNV Uncertain significance 901622 GRCh37: 3:4888152-4888152
GRCh38: 3:4846468-4846468
25 ITPR1 NM_001378452.1(ITPR1):c.*472T>G SNV Uncertain significance 901623 GRCh37: 3:4888381-4888381
GRCh38: 3:4846697-4846697
26 ITPR1 NM_001378452.1(ITPR1):c.*580T>G SNV Uncertain significance 901624 GRCh37: 3:4888489-4888489
GRCh38: 3:4846805-4846805
27 ITPR1 NM_001378452.1(ITPR1):c.*592T>G SNV Uncertain significance 901625 GRCh37: 3:4888501-4888501
GRCh38: 3:4846817-4846817
28 ITPR1 NM_001378452.1(ITPR1):c.2686T>G (p.Leu896Val) SNV Uncertain significance 901748 GRCh37: 3:4716839-4716839
GRCh38: 3:4675155-4675155
29 ITPR1 NM_001378452.1(ITPR1):c.2808C>T (p.Gly936=) SNV Uncertain significance 901749 GRCh37: 3:4718326-4718326
GRCh38: 3:4676642-4676642
30 ITPR1 NM_001378452.1(ITPR1):c.2929G>A (p.Val977Ile) SNV Uncertain significance 901750 GRCh37: 3:4718447-4718447
GRCh38: 3:4676763-4676763
31 ITPR1 NM_001378452.1(ITPR1):c.3944A>G (p.Asn1315Ser) SNV Uncertain significance 901819 GRCh37: 3:4732943-4732943
GRCh38: 3:4691259-4691259
32 ITPR1 NM_001378452.1(ITPR1):c.4225C>T (p.Leu1409=) SNV Uncertain significance 901820 GRCh37: 3:4735369-4735369
GRCh38: 3:4693685-4693685
33 ITPR1 NM_001378452.1(ITPR1):c.5970A>T (p.Arg1990=) SNV Uncertain significance 901887 GRCh37: 3:4810439-4810439
GRCh38: 3:4768755-4768755
34 ITPR1 NM_001378452.1(ITPR1):c.5974C>T (p.Leu1992=) SNV Uncertain significance 901888 GRCh37: 3:4810443-4810443
GRCh38: 3:4768759-4768759
35 ITPR1 NM_001378452.1(ITPR1):c.-63C>T SNV Uncertain significance 902258 GRCh37: 3:4536144-4536144
GRCh38: 3:4494460-4494460
36 ITPR1 NM_001378452.1(ITPR1):c.1412+6C>T SNV Uncertain significance 902541 GRCh37: 3:4703932-4703932
GRCh38: 3:4662248-4662248
37 ITPR1 NM_001378452.1(ITPR1):c.3162-9C>T SNV Uncertain significance 902654 GRCh37: 3:4725061-4725061
GRCh38: 3:4683377-4683377
38 ITPR1 NM_001378452.1(ITPR1):c.4785C>T (p.Arg1595=) SNV Uncertain significance 902724 GRCh37: 3:4747978-4747978
GRCh38: 3:4706294-4706294
39 ITPR1 NM_001378452.1(ITPR1):c.5001G>A (p.Lys1667=) SNV Uncertain significance 902725 GRCh37: 3:4753450-4753450
GRCh38: 3:4711766-4711766
40 ITPR1 NM_001378452.1(ITPR1):c.6383A>T (p.Glu2128Val) SNV Uncertain significance 902786 GRCh37: 3:4821325-4821325
GRCh38: 3:4779641-4779641
41 ITPR1 NM_001378452.1(ITPR1):c.6579C>A (p.Ala2193=) SNV Uncertain significance 902787 GRCh37: 3:4825568-4825568
GRCh38: 3:4783884-4783884
42 ITPR1 NM_001378452.1(ITPR1):c.6817G>A (p.Val2273Met) SNV Uncertain significance 902788 GRCh37: 3:4836757-4836757
GRCh38: 3:4795073-4795073
43 ITPR1 NM_001378452.1(ITPR1):c.48T>A (p.Ser16=) SNV Uncertain significance 903129 GRCh37: 3:4558223-4558223
GRCh38: 3:4516539-4516539
44 ITPR1 NM_001378452.1(ITPR1):c.1028G>A (p.Arg343Lys) SNV Uncertain significance 903190 GRCh37: 3:4699839-4699839
GRCh38: 3:4658155-4658155
45 ITPR1 NM_001378452.1(ITPR1):c.1260C>G (p.Thr420=) SNV Uncertain significance 903329 GRCh37: 3:4703774-4703774
GRCh38: 3:4662090-4662090
46 ITPR1 NM_001378452.1(ITPR1):c.*816C>T SNV Uncertain significance 903572 GRCh37: 3:4888725-4888725
GRCh38: 3:4847041-4847041
47 ITPR1 NM_001378452.1(ITPR1):c.*879T>C SNV Uncertain significance 903573 GRCh37: 3:4888788-4888788
GRCh38: 3:4847104-4847104
48 ITPR1 NM_001378452.1(ITPR1):c.*942G>T SNV Uncertain significance 903574 GRCh37: 3:4888851-4888851
GRCh38: 3:4847167-4847167
49 ITPR1 NM_001378452.1(ITPR1):c.1697A>G (p.Asp566Gly) SNV Uncertain significance 903635 GRCh37: 3:4706964-4706964
GRCh38: 3:4665280-4665280
50 SPTBN2 NM_006946.3(SPTBN2):c.6735C>T (p.Asn2245=) SNV Uncertain significance 305529 rs750664912 GRCh37: 11:66454626-66454626
GRCh38: 11:66687155-66687155

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
13.09 TBP PRKCG LRRK2 ITPR1 ATXN3 ATXN2
2
Show member pathways
12.9 PRKCG PPP2R2B FGF14 ATXN7 ATXN3 ATXN2
3
Show member pathways
12.04 POLG ATXN7 ATXN3 ATXN2 ATXN10 ATXN1
4 11.98 PRKCG PPP2R2B ITPR1 CACNA1A
5 11.64 PRKCG ITPR1 CACNA1A
6 11.52 TBP PRKCG ITPR1 FGF14 CACNA1A ATXN8OS
7 11.21 PRKCG ITPR1 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 9.33 ATXN7 ATXN3 ATXN1
2 presynaptic cytosol GO:0099523 8.96 PRKCG LRRK2
3 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 exploration behavior GO:0035640 8.62 LRRK2 ATXN3

Sources for Autosomal Dominant Cerebellar Ataxia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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