SCA
MCID: ATS308
MIFTS: 58

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 54 15
Spinocerebellar Ataxia 12 77 54 38
Spinocerebellar Ataxias 56 45
Ataxia, Spinocerebellar 41 74
Adca 54
Sca 54

Classifications:



Summaries for Autosomal Dominant Cerebellar Ataxia

NIH Rare Diseases : 54 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 olivopontocerebellar atrophy, 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 Long-term depression and Ribosome biogenesis in eukaryotes. The drugs Clonidine and Estradiol have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and eye, and related phenotypes are nystagmus and ataxia

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

Wikipedia : 77 Spinocerebellar ataxia (SCA), also known as spinocerebellar atrophy or spinocerebellar degeneration, is... more...

Related Diseases for Autosomal Dominant Cerebellar Ataxia

Diseases in the Autosomal Dominant Cerebellar Ataxia family:

Autosomal Recessive Cerebellar Ataxia Congenital Cerebellar Ataxia Due to Rnu12 Mutation

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

(show top 50) (show all 272)
# Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia 7 33.7 ATXN2 ATXN7 SCAANT1
2 olivopontocerebellar atrophy 33.2 ATXN2 ATXN7
3 spinocerebellar ataxia 2 33.1 ATXN2 ATXN3 ATXN7 CACNA1A
4 spinocerebellar ataxia 6 33.0 ATXN3 ATXN7 CACNA1A
5 cerebellar degeneration 32.9 ATXN2 CACNA1A
6 friedreich ataxia 1 32.8 ATXN1 ATXN3 ATXN8OS CACNA1A
7 spinocerebellar ataxia 1 32.7 ATN1 ATXN1 ATXN3 ATXN7 ATXN8OS CACNA1A
8 machado-joseph disease 32.7 ATN1 ATXN1 ATXN2 ATXN3 ATXN7 CACNA1A
9 spinocerebellar ataxia 27 32.5 CACNA1A FGF14
10 spinocerebellar ataxia 31 32.5 ATXN3 ATXN7 CACNA1A
11 spinocerebellar ataxia 12 32.4 ATN1 ATXN1 ATXN2 ATXN3 ATXN7 ATXN8OS
12 spinocerebellar ataxia 17 32.4 ATN1 ATXN3 ATXN7 CACNA1A TBP
13 spinocerebellar ataxia 18 32.3 ATXN3 ATXN7 CACNA1A SCA18
14 spinocerebellar ataxia 8 32.3 ATXN10 ATXN8OS PPP2R2B
15 spinocerebellar ataxia 28 32.3 AFG3L2 FGF14 KCNC3 PRKCG TTBK2
16 spinocerebellar ataxia 36 32.2 ATXN10 ATXN2 PPP2R2B
17 dentatorubral-pallidoluysian atrophy 31.9 ATN1 ATXN2 ATXN3 ATXN7 CACNA1A PPP2R2B
18 aceruloplasminemia 31.5 AFG3L2 ATXN1 ATXN10 ATXN2 ATXN3 ATXN7
19 huntington disease 30.9 ATN1 ATXN1 ATXN3 TBP
20 parkinson disease, late-onset 30.4 ATXN2 ATXN3 ATXN8OS TBP
21 cerebellar disease 30.3 ATXN10 ATXN3 ATXN7 CACNA1A PPP2R2B PRKCG
22 hereditary ataxia 29.5 AFG3L2 ATN1 ATXN1 ATXN10 ATXN2 ATXN3
23 spinocerebellar ataxia, autosomal recessive 7 12.7
24 spinocerebellar ataxia, autosomal recessive 1 12.6
25 spinocerebellar ataxia 19 12.6
26 spinocerebellar ataxia, autosomal recessive 16 12.6
27 spinocerebellar ataxia 42 12.6
28 spinocerebellar ataxia, autosomal recessive 20 12.6
29 spinocerebellar ataxia type 1 with axonal neuropathy 12.6
30 spinocerebellar ataxia, autosomal recessive 23 12.6
31 spinocerebellar ataxia, autosomal recessive 4 12.5
32 anemia, sideroblastic, and spinocerebellar ataxia 12.5
33 spinocerebellar ataxia, autosomal recessive 21 12.5
34 spinocerebellar ataxia, autosomal recessive 2 12.5
35 spinocerebellar ataxia, autosomal recessive 8 12.5
36 spinocerebellar ataxia, autosomal recessive 10 12.5
37 spinocerebellar ataxia, autosomal recessive 12 12.5
38 spinocerebellar ataxia, autosomal recessive 11 12.5
39 spinocerebellar ataxia, autosomal recessive 13 12.5
40 spinocerebellar ataxia, autosomal recessive 14 12.5
41 spinocerebellar ataxia, autosomal recessive 15 12.5
42 spinocerebellar ataxia, autosomal recessive 17 12.5
43 spinocerebellar ataxia, x-linked 1 12.5
44 spinocerebellar ataxia, autosomal recessive 18 12.5
45 spinocerebellar ataxia 41 12.5
46 spinocerebellar ataxia 44 12.5
47 spinocerebellar ataxia 46 12.5
48 spinocerebellar ataxia, autosomal recessive 3 12.5
49 spinocerebellar ataxia 43 12.5
50 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 12.4

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:

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

UMLS symptoms related to Autosomal Dominant Cerebellar Ataxia:


ataxia, cerebellar ataxia

MGI Mouse Phenotypes related to Autosomal Dominant Cerebellar Ataxia:

47
# 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 9.4 AFG3L2 ATN1 ATXN1 ATXN2 ATXN3 ATXN7

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 187)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Clonidine Approved Phase 4 4205-90-7 2803
2
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
3
Polyestradiol phosphate Approved Phase 4 28014-46-2
4
Mecasermin Approved, Investigational Phase 4 68562-41-4
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 62-31-7, 51-61-6 681
8
Amantadine Approved Phase 4 768-94-5 2130
9
Citalopram Approved Phase 4 59729-33-8 2771
10
Bupropion Approved Phase 4 34841-39-9, 34911-55-2 444
11 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable,Early Phase 1
12 Adrenergic Agonists Phase 4
13 Contraceptive Agents Phase 4
14 Hormones Phase 4,Phase 3,Phase 2,Not Applicable,Early Phase 1
15 arginine Phase 4
16 Autonomic Agents Phase 4,Phase 3,Not Applicable,Early Phase 1
17 Adrenergic alpha-2 Receptor Agonists Phase 4
18 Neurotransmitter Agents Phase 4,Phase 2,Phase 3
19 Sympatholytics Phase 4
20 Adrenergic alpha-Agonists Phase 4
21 Hormone Antagonists Phase 4,Phase 3,Phase 2,Not Applicable,Early Phase 1
22 Insulin, Globin Zinc Phase 4
23 Estradiol 17 beta-cypionate Phase 4
24 Estradiol 3-benzoate Phase 4
25 insulin Phase 4
26 Adrenergic Agents Phase 4
27 Analgesics Phase 4,Phase 1,Phase 2
28 Antihypertensive Agents Phase 4,Phase 2
29 Mitogens Phase 4
30 Estrogens Phase 4
31 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Not Applicable,Early Phase 1
32 Hypoglycemic Agents Phase 4,Phase 3
33 Dopamine Agents Phase 4
34 Antiviral Agents Phase 4,Phase 3,Phase 2,Not Applicable
35 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Not Applicable
36 Antiparkinson Agents Phase 4
37 Analgesics, Non-Narcotic Phase 4,Phase 1,Phase 2
38 Dopamine Uptake Inhibitors Phase 4
39 Muscarinic Antagonists Phase 4
40 Cytochrome P-450 CYP2D6 Inhibitors Phase 4
41 Cholinergic Agents Phase 4,Phase 2,Phase 3
42 Cholinergic Antagonists Phase 4
43 Antidepressive Agents, Second-Generation Phase 4
44 Psychotropic Drugs Phase 4,Phase 2,Phase 3,Phase 1
45 Serotonin Agents Phase 4
46 Serotonin Uptake Inhibitors Phase 4
47 Neurotransmitter Uptake Inhibitors Phase 4
48 Antidepressive Agents Phase 4,Phase 2,Phase 3,Phase 1
49 Cytochrome P-450 Enzyme Inhibitors Phase 4
50 Parasympatholytics Phase 4

Interventional clinical trials:

(show top 50) (show all 136)
# 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 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 An Additional Confirmatory Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) Completed NCT02889302 Phase 3 KPS-0373;Placebo
8 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
9 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
10 An Extension Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) Completed NCT01970111 Phase 3 KPS-0373, High dose;KPS-0373, Low dose
11 Efficacy of Riluzole in Hereditary Cerebellar Ataxia Completed NCT01104649 Phase 2, Phase 3 riluzole;Placebo comparator
12 Conjugate Pneumococcal Vaccine in Ataxia Telangiectasia (AT) Completed NCT00656409 Phase 3 Conjugated pneumococcal vaccine (Prevenar)
13 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
14 Safety, Tolerability and Efficacy of ACTIMMUNE® Dose Escalation in Friedreich's Ataxia Study Completed NCT02593773 Phase 3 Interferon γ-1b
15 Safety, Tolerability and Efficacy of ACTIMMUNE® Dose Escalation in Friedreich's Ataxia Completed NCT02415127 Phase 3 Interferon γ-1b;Placebo
16 Patient Reported Outcomes in Friedreich's Ataxia Patients After Withdrawal From Treatment With Idebenone (PROTI) Completed NCT01303406 Phase 3 Idebenone;Placebo
17 Long-Term Safety and Tolerability of Idebenone in Friedreich's Ataxia Patients (MICONOS Extension) Completed NCT00993967 Phase 3 idebenone
18 A Study of Efficacy, Safety and Tolerability of Idebenone in the Treatment of Friedreich's Ataxia (FRDA) Patients Completed NCT00905268 Phase 3 idebenone;Placebo
19 Effect of Pioglitazone Administered to Patients With Friedreich's Ataxia: Proof of Concept Completed NCT00811681 Phase 3 pioglitazone;Placebo
20 Study to Assess the Safety and Tolerability of Idebenone in the Treatment of Friedreich's Ataxia Patients Completed NCT00697073 Phase 3 Idebenone
21 Study to Assess the Efficacy, Safety and Tolerability of Idebenone in the Treatment of Friedreich's Ataxia Completed NCT00537680 Phase 3 Idebenone;Idebenone;Placebo
22 Troriluzole in Adult Subjects With Spinocerebellar Ataxia Recruiting NCT03701399 Phase 3 troriluzole;Placebos
23 Clinical Trial With Riluzole in Spinocerebellar Ataxia Type 2 (ATRIL) Recruiting NCT03347344 Phase 3 Riluzole;Placebo
24 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 Recruiting NCT03563053 Phase 3
25 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
26 Trial in Adult Subjects With Spinocerebellar Ataxia Active, not recruiting NCT02960893 Phase 2, Phase 3 BHV-4157;Placebo Comparator
27 An Open Pilot Trial of BHV-4157 Active, not recruiting NCT03408080 Phase 3 BHV-4157
28 Riluzole in Patients With Spinocerebellar Ataxia Type 7 Not yet recruiting NCT03660917 Phase 2, Phase 3 Riluzole;Placebo
29 Pilot Study of Varenicline (Chantix®) in the Treatment of Friedreich's Ataxia Terminated NCT00803868 Phase 2, Phase 3 varenicline;placebo
30 Efficacy and Safety Study of Stemchymal® in Polyglutamine Spinocerebellar Ataxia Unknown status NCT02540655 Phase 2
31 A New Method to Treat Hereditary Cerebellar Ataxia - Umbilical Cord Mesenchymal Stem Cells Transplantation Unknown status NCT01489267 Phase 2
32 Safety and Efficacy of Umbilical Cord Mesenchymal Stem Cell Therapy for Patients With Hereditary Ataxia Unknown status NCT01360164 Phase 1, Phase 2
33 Effect of Nicotinamide in Friedreich's Ataxia Unknown status NCT01589809 Phase 2 nicotinamide
34 Study to Determine the Safety and Tolerability of Varenicline (Chantix®) in Treating Spinocerebellar Ataxia Type 3 Completed NCT00992771 Phase 2 varenicline;placebo
35 Safety and Efficacy of Intravenous Immune Globulin in Treating Spinocerebellar Ataxia Completed NCT01350440 Phase 2
36 Safety and Tolerability of Lithium in Spinocerebellar Ataxia 2 (SCA2) Completed NCT00998634 Phase 2 LITHIUM CARBONATE
37 A Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) Completed NCT01004016 Phase 2 KPS-0373;Placebo
38 Phase II Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) Completed NCT00863538 Phase 2 KPS-0373
39 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
40 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
41 High-Dose Intravenous Immunoglobulin to Treat Cerebellar Degeneration Completed NCT00034242 Phase 2 high-dose intravenous immunoglobulin (IVIG)
42 The Influence of Deep TMS on Cerebellar Signs in Patients With Machado Joseph Disease Completed NCT02039206 Phase 2
43 Effect of Riluzole as a Symptomatic Approach in Patients With Chronic Cerebellar Ataxia Completed NCT00202397 Phase 2 Riluzole
44 Open Trail of γIFN for Friedreich Ataxia Completed NCT03888664 Phase 2 gamma interferon
45 Efficacy, Tolerability, and Pharmacokinetics of Multiple Doses of Oral TAK-831 in Adults With Friedreich Ataxia Completed NCT03214588 Phase 2 TAK-831;TAK-831 Placebo
46 (+) Epicatechin to Treat Friedreich's Ataxia Completed NCT02660112 Phase 2 (+)-Epicatechin
47 A First in Human Study of RT001 in Patients With Friedreich's Ataxia Completed NCT02445794 Phase 1, Phase 2 RT001;RT001 comparator
48 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
49 Interferon Gamma-1b in Friedreich Ataxia (FRDA) Completed NCT01965327 Phase 2 Interferon Gamma-1b
50 EPI-743 in Friedreich's Ataxia Point Mutations Completed NCT01962363 Phase 2 EPI-743

Search NIH Clinical Center for Autosomal Dominant Cerebellar Ataxia

Cochrane evidence based reviews: spinocerebellar ataxias

Genetic Tests for Autosomal Dominant Cerebellar Ataxia

Anatomical Context for Autosomal Dominant Cerebellar Ataxia

MalaCards organs/tissues related to Autosomal Dominant Cerebellar Ataxia:

42
Brain, Testes, Eye, Cerebellum, Cortex, Liver, Spinal Cord

Publications for Autosomal Dominant Cerebellar Ataxia

Articles related to Autosomal Dominant Cerebellar Ataxia:

(show top 50) (show all 1777)
# Title Authors Year
1
DNMT1-complex disorder caused by a novel mutation associated with an overlapping phenotype of autosomal-dominant cerebellar ataxia, deafness, and narcolepsy (ADCA-DN) and hereditary sensory neuropathy with dementia and hearing loss (HSN1E). ( 30911858 )
2019
2
Intensive Outpatient Treatment of Depression in a Spinocerebellar Ataxia Type 1 Patient. ( 30886755 )
2019
3
Familial Spinocerebellar Ataxia Type 2 Parkinsonism Presenting as Intractable Oromandibular Dystonia. ( 30809419 )
2019
4
Different patterns of movement-related cortical oscillations in patients with myoclonus and in patients with spinocerebellar ataxia. ( 30889419 )
2019
5
Spinocerebellar ataxia type 31 associated with REM sleep behavior disorder: a case report. ( 30634945 )
2019
6
Cell Death Mechanisms in a Mouse Model of Retinal Degeneration in Spinocerebellar Ataxia 7. ( 30625334 )
2019
7
Corrigendum to "Cell Death Mechanisms in a Mouse Model of Retinal Degeneration in Spinocerebellar Ataxia 7" [Neuroscience 400C (2019) 72-84]. ( 30825441 )
2019
8
Macular degeneration as a common cause of visual loss in spinocerebellar ataxia type 1 (SCA1) patients. ( 30729852 )
2019
9
Self-assembling vascular endothelial growth factor nanoparticles improve function in spinocerebellar ataxia type 1. ( 30649233 )
2019
10
(CAG)n loci as genetic modifiers of age at onset in patients with spinocerebellar ataxia type 1 from mainland China. ( 30891880 )
2019
11
Ophthalmological and Neurologic Manifestations in Pre-clinical and Clinical Phases of Spinocerebellar Ataxia Type 7. ( 30637674 )
2019
12
Metabolic and Organelle Morphology Defects in Mice and Human Patients Define Spinocerebellar Ataxia Type 7 as a Mitochondrial Disease. ( 30699348 )
2019
13
Effects of Physical Rehabilitation in Patients with Spinocerebellar Ataxia Type 7. ( 30701400 )
2019
14
Wide Profiling of Circulating MicroRNAs in Spinocerebellar Ataxia Type 7. ( 30721448 )
2019
15
Insights into cognitive decline in spinocerebellar Ataxia type 2: a P300 event-related brain potential study. ( 30873287 )
2019
16
Infantile-onset spinocerebellar ataxia type 5 associated with a novel SPTBN2 mutation: A case report. ( 30898343 )
2019
17
99mTc-TRODAT-1 SPECT Showing Dopaminergic Deficiency in a Patient with Spinocerebellar Ataxia Type 10 and Parkinsonism. ( 30746424 )
2019
18
Modeling neurodegenerative Spinocerebellar Ataxia type 13 in zebrafish using a Purkinje neuron specific tunable co-expression system. ( 30862666 )
2019
19
Occurrence of Stridor During Sleep in a Patient With Spinocerebellar Ataxia Type 17. ( 30621838 )
2019
20
Shaoyao Gancao Tang (SG-Tang), a formulated Chinese medicine, reduces aggregation and exerts neuroprotection in spinocerebellar ataxia type 17 (SCA17) cell and mouse models. ( 30760647 )
2019
21
Why do so many genetic insults lead to Purkinje Cell degeneration and spinocerebellar ataxia? ( 29421540 )
2019
22
Far-infrared Radiation Improves Motor Dysfunction and Neuropathology in Spinocerebellar Ataxia Type 3 Mice. ( 29725949 )
2019
23
Age at onset prediction in spinocerebellar ataxia type 3 changes according to population of origin. ( 30125433 )
2019
24
Reduced Purkinje cell size is compatible with near normal morphology and function of the cerebellar cortex in a mouse model of spinocerebellar ataxia. ( 30312605 )
2019
25
Pharmacological enhancement of retinoid-related orphan receptor α function mitigates spinocerebellar ataxia type 3 pathology. ( 30343032 )
2019
26
Targeting Ubiquitin Proteasome Pathway with Traditional Chinese Medicine for Treatment of Spinocerebellar Ataxia Type 3. ( 30612452 )
2019
27
Facial grimacing and clinical correlates in spinocerebellar ataxia type 3. ( 30616057 )
2019
28
The Role of microRNAs in Spinocerebellar Ataxia Type 3. ( 30664869 )
2019
29
A significant inflation in TGM6 genetic risk casts doubt in its causation in spinocerebellar ataxia type 35. ( 30670339 )
2019
30
Nerve ultrasound as a diagnostic tool for sensory neuronopathy in spinocerebellar ataxia syndrome. ( 30713001 )
2019
31
Assessment of Bone Mineral Density of Patients with Spinocerebellar Ataxia Type 3. ( 30732432 )
2019
32
Repetitive Transcranial Magnetic Stimulation in Spinocerebellar Ataxia: A Pilot Randomized Controlled Trial. ( 30809184 )
2019
33
Spinocerebellar ataxia: Functional analysis of the stomatognathic system. ( 30818308 )
2019
34
First report of a Mongolian family with spinocerebellar ataxia type I. ( 30826209 )
2019
35
Extra-Cerebellar Signs and Non-motor Features in Chinese Patients With Spinocerebellar Ataxia Type 3. ( 30833927 )
2019
36
Long-term efficacy of docosahexaenoic acid (DHA) for Spinocerebellar Ataxia 38 (SCA38) treatment: An open label extension study. ( 30862453 )
2019
37
SNX14 mutations affect endoplasmic reticulum-associated neutral lipid metabolism in autosomal recessive spinocerebellar ataxia 20. ( 29635513 )
2018
38
Spinocerebellar ataxia 17: full phenotype in a 41 CAG/CAA repeats carrier. ( 29564144 )
2018
39
Case Report: A patient with spinocerebellar ataxia type 31 and sporadic Creutzfeldt-Jakob disease. ( 29411683 )
2018
40
Elevated Global DNA Methylation Is Not Exclusive to Amyotrophic Lateral Sclerosis and Is Also Observed in Spinocerebellar Ataxia Types 1 and 2. ( 29428949 )
2018
41
Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy. ( 29718187 )
2018
42
Spinocerebellar Ataxia-21 in a Turkish Child. ( 29720801 )
2018
43
The Neuropathology of Spinocerebellar Ataxia Type 3/Machado-Joseph Disease. ( 29427106 )
2018
44
Spinocerebellar Ataxia Type 31 with Blepharospasm. ( 29434122 )
2018
45
Simulation Based Investigation of Deleterious nsSNPs in ATXN2 Gene and Its Structural Consequence Toward Spinocerebellar Ataxia. ( 28612427 )
2018
46
<i>CAPN1</i> mutations broadening the hereditary spastic paraplegia/spinocerebellar ataxia phenotype. ( 29678961 )
2018
47
Novel Features and Abnormal Pattern of Cerebral Glucose Metabolism in Spinocerebellar Ataxia 19. ( 29527639 )
2018
48
Towards the Identification of Molecular Biomarkers of Spinocerebellar Ataxia Type 3 (SCA3)/Machado-Joseph Disease (MJD). ( 29427111 )
2018
49
Spinocerebellar Ataxia 27: A Review and Characterization of an Evolving Phenotype. ( 29416937 )
2018
50
Machado-Joseph disease / Spinocerebellar ataxia type 3:lessons from disease pathogenesis and clues into therapy. ( 29959858 )
2018

Variations for Autosomal Dominant Cerebellar Ataxia

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:

38
# 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
Show member pathways
12.37 ATXN1 ATXN10 ATXN2 ATXN3 ATXN7 FGF14
2
Show member pathways
11.96 ATXN1 ATXN10 ATXN2 ATXN3 ATXN7
3 11.81 CACNA1A KCNC3 PPP2R2B PRKCG

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 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 8.96 CACNA1A PRKCG
2 microtubule cytoskeleton organization GO:0000226 8.8 ATXN3 ATXN7 TTBK2

Sources for Autosomal Dominant Cerebellar Ataxia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....