Autosomal Dominant Cerebellar Ataxia disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

SCA MCID: ATS308 MIFTS: 60	Autosomal Dominant Cerebellar Ataxia (SCA) Categories: Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs Expand all tables

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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:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the nervous system

Systemic atrophies primarily affecting the central nervous system

Hereditary ataxia

Other hereditary ataxias

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

SNOMED-CT via HPO ⁶⁸ 19373007 221360009 22325002 more

UMLS ⁷¹ C0087012

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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...

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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:

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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

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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

TA 0910

Phase 4

Lithium carbonate

Approved

Phase 2, Phase 3

554-13-2

Riluzole

Approved, Investigational

Phase 2, Phase 3

1744-22-5

5070

Glutamic acid

Approved, Nutraceutical

Phase 3

56-86-0

33032

Antidepressive Agents

Phase 2, Phase 3

Psychotropic Drugs

Phase 2, Phase 3

Thyrotropin-Releasing Hormone

Phase 3

Neurotransmitter Agents

Phase 2, Phase 3

Excitatory Amino Acid Antagonists

Phase 2, Phase 3

Neuroprotective Agents

Phase 2, Phase 3

Anticonvulsants

Phase 2, Phase 3

Protective Agents

Phase 2, Phase 3

Varenicline

Approved, Investigational

Phase 2

249296-44-4

5310966

Menthol

Approved

Phase 2

2216-51-5

16666

Prednisolone phosphate

Approved, Vet_approved

Phase 1, Phase 2

302-25-0

Mesna

Approved, Investigational

Phase 1, Phase 2

3375-50-6

598

Methylprednisolone

Approved, Vet_approved

Phase 1, Phase 2

83-43-2

6741

Methylprednisolone hemisuccinate

Approved

Phase 1, Phase 2

2921-57-5

Sargramostim

Approved, Investigational

Phase 1, Phase 2

83869-56-1, 123774-72-1

Cyclophosphamide

Approved, Investigational

Phase 1, Phase 2

50-18-0, 6055-19-2

2907

Lenograstim

Approved, Investigational

Phase 1, Phase 2

135968-09-1

rituximab

Approved

Phase 1, Phase 2

174722-31-7

10201696

Prednisolone acetate

Approved, Vet_approved

Phase 1, Phase 2

52-21-1

Prednisolone

Approved, Vet_approved

Phase 1, Phase 2

50-24-8

5755

4-Aminopyridine

Approved

Phase 1, Phase 2

504-24-5

1727

Prednisolone hemisuccinate

Experimental

Phase 1, Phase 2

2920-86-7

Rho(D) Immune Globulin

Phase 2

gamma-Globulins

Phase 2

Immunoglobulins, Intravenous

Phase 2

Pharmaceutical Solutions

Phase 2

Nicotinic Agonists

Phase 2

Cholinergic Agents

Phase 2

Calcium, Dietary

Phase 2

interferons

Phase 2

Antiviral Agents

Phase 2

Interferon-gamma

Phase 2

Anti-Infective Agents

Phase 2

Antibodies

Phase 1, Phase 2

Immunoglobulins

Phase 1, Phase 2

Immunologic Factors

Phase 1, Phase 2

Hormones

Phase 1, Phase 2

Gastrointestinal Agents

Phase 1, Phase 2

Antineoplastic Agents, Immunological

Phase 1, Phase 2

Methylprednisolone Acetate

Phase 1, Phase 2

Antineoplastic Agents, Hormonal

Phase 1, Phase 2

Immunosuppressive Agents

Phase 1, Phase 2

Antibodies, Monoclonal

Phase 1, Phase 2

Antiemetics

Phase 1, Phase 2

Alkylating Agents

Phase 1, Phase 2

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

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Genetic Tests for Autosomal Dominant Cerebellar Ataxia

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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

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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	Braga Neto P...Barsottini OG	27050855	2016
2	Late Diagnosis of Wilson Disease, Initially Presenting as Cerebellar Atrophy Mimicking Spinocerebellar Ataxia, by Multigene Panel Testing. ⁶¹	Kim MK...Kwon MJ	32539308	2020
3	Cortical network dysfunction revealed by magnetoencephalography in carriers of spinocerebellar ataxia 1 or 2 mutation. ⁶¹	Visani E...Canafoglia L	32408088	2020
4	Long-term follow-up in infantile-onset SCAR18: A case report. ⁶¹	Iodice A...Fusco C	32387255	2020
5	ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy. ⁶¹	Caporali L...Taroni F	32219868	2020
6	Inclusion body myositis in patients with spinocerebellar ataxia types 3 and 6. ⁶¹	Rietveld A...Raaphorst J	32576615	2020
7	Frequency and distribution of polyQ disease intermediate-length repeat alleles in healthy Italian population. ⁶¹	Mongelli A...Nanetti L	31940111	2020
8	The Pathophysiology and Clinical Manifestations of Spinocerebellar Ataxia Type 6. ⁶¹	Rentiya Z...Bae J	32125675	2020
9	Evolution of the vestibular function during head impulses in spinocerebellar ataxia type 6. ⁶¹	Lee SU...Yang X	32067125	2020
10	Deciphering the natural history of SCA7 in children. ⁶¹	Bah MG...Mignot C	32558018	2020
11	The TMEM240 Protein, Mutated in SCA21, Is Expressed in Purkinje Cells and Synaptic Terminals. ⁶¹	Homa M...Sablonniere B	32002801	2020
12	A Variation in FGF14 Is Associated with Downbeat Nystagmus in a Genome-Wide Association Study. ⁶¹	Strupp M...Rujescu D	32157568	2020
13	Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy. ⁶¹	Charif M...Lenaers G	32548275	2020
14	Founder Effects of Spinocerebellar Ataxias in the American Continents and the Caribbean. ⁶¹	Rodriguez-Labrada R...PanAmerican Hereditary Ataxia Network	32086717	2020
15	Trehalose in Machado-Joseph Disease: Safety, Tolerability, and Efficacy. ⁶¹	Zaltzman R...Gordon CR	32514820	2020
16	Neuromelanin imaging analyses of the substantia nigra in patients with Machado-Joseph disease. ⁶¹	Nakata Y...Kawata A	32556403	2020
17	A 5-Year Longitudinal Clinical and Magnetic Resonance Imaging Study in Spinocerebellar Ataxia Type 3. ⁶¹	Piccinin CC...Franca MC	32515873	2020
18	Spinocerebellar Ataxia Type 3: A Case Report and Literature Review. ⁶¹	McCord MR...Mao Q	32346735	2020
19	Neurofilaments in spinocerebellar ataxia type 3: blood biomarkers at the preataxic and ataxic stage in humans and mice. ⁶¹	Wilke C...Synofzik M	32510847	2020
20	Features of speech and swallowing dysfunction in pre-ataxic spinocerebellar ataxia type 2. ⁶¹	Vogel AP...Synofzik M	32527970	2020
21	EMG Rectification Is Detrimental for Identifying Abnormalities in Corticomuscular and Intermuscular Coherence in Spinocerebellar Ataxia Type 2. ⁶¹	Ruiz-Gonzalez Y...Ziemann U	32500511	2020
22	Novel GDAP2 pathogenic variants cause autosomal recessive spinocerebellar ataxia-27 (SCAR27) in a Chinese family. ⁶¹	Dong HL...Wu ZY	32437512	2020
23	Ameliorating effect of rovatirelin on the ataxia in rolling mouse Nagoya. ⁶¹	Ijiro T...Kiguchi S	32534077	2020
24	Endoplasmic Reticulum Associated Degradation of Spinocerebellar Ataxia-Related CD10 Cysteine Mutant. ⁶¹	Kanuka M...Tamura T	32545905	2020
25	Efficacy of tDCS for bipolar depression in a patient with spinocerebellar ataxia: A case report. ⁶¹	Granon B...Amad A	32365262	2020
26	TGM6 L517W is not a pathogenic variant for spinocerebellar ataxia type 35. ⁶¹	Chen Y...Wang K	32426513	2020
27	Minidumbbell structures formed by ATTCT pentanucleotide repeats in spinocerebellar ataxia type 10. ⁶¹	Guo P...Lam SL	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	Eidhof I...van de Warrenburg BP	32428197	2020
29	Dopaminergic function in spinocerebellar ataxia type 6 patients with and without parkinsonism. ⁶¹	Horimoto Y...Kabasawa H	32440919	2020
30	Generation of induced pluripotent stem cell line (CSUXHi002-A) from a patient with spinocerebellar ataxia type 1. ⁶¹	He L...Jiang H	32335388	2020
31	Nuclear inclusions of pathogenic ataxin-1 induce oxidative stress and perturb the protein synthesis machinery. ⁶¹	Laidou S...Petrakis S	32145456	2020
32	Impairment of Global Lower Limb Muscle Coactivation During Walking in Cerebellar Ataxias. ⁶¹	Fiori L...Serrao M	32410093	2020
33	Synthetic α-Tocopherol, Compared with Natural α-Tocopherol, Downregulates Myelin Genes in Cerebella of Adolescent Ttpa-null Mice. ⁶¹	Ranard KM...Erdman JW	31883016	2020
34	Mechanisms of Regulation and Diverse Activities of Tau-Tubulin Kinase (TTBK) Isoforms. ⁶¹	Bao C...Dillon GM	32424773	2020
35	Lactulose and Melibiose Inhibit α-Synuclein Aggregation and Up-Regulate Autophagy to Reduce Neuronal Vulnerability. ⁶¹	Chen CM...Chang KH	32429337	2020
36	Volumetric MRI Changes in Spinocerebellar Ataxia (SCA3 and SCA10) Patients. ⁶¹	Arruda WO...Teive HAG	32367276	2020
37	Profiling of mitochondrial genomes in SCA3/MJD patients from mainland China. ⁶¹	Yuan H...Jiang H	32087274	2020
38	Generation of human iPS cell line IBCHi002-A from spinocerebellar ataxia type 3/Machado-Joseph disease patient's fibroblasts. ⁶¹	Ciolak A...Fiszer A	32361312	2020
39	The discriminative capacity of CSF β-amyloid 42 and Tau in neurodegenerative diseases in the Chinese population. ⁶¹	Ye LQ...Wu ZY	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	Stendel C...Pessia M	32471306	2020
41	The effects of statins on microglial cells to protect against neurodegenerative disorders: A mechanistic review. ⁶¹	Bagheri H...Sahebkar A	31846136	2020
42	Hexanucleotide Repeat Expansions in c9FTD/ALS and SCA36 Confer Selective Patterns of Neurodegeneration In Vivo. ⁶¹	Todd TW...Petrucelli L	32375043	2020
43	Chimeric Peptide Species Contribute to Divergent Dipeptide Repeat Pathology in c9ALS/FTD and SCA36. ⁶¹	McEachin ZT...Bassell GJ	32375063	2020
44	Rapid Diagnosis of Spinocerebellar Ataxia 36 in a three-Generation Family Using Short-Read Whole-Genome Sequencing Data. ⁶¹	Rafehi H...Bahlo M	32407596	2020
45	Ancient founder mutation in RUBCN: a second unrelated family confirms Salih ataxia (SCAR15). ⁶¹	Seidahmed MZ...Kaya N	32450808	2020
46	Cancer frequency in patients with spinocerebellar ataxia type 10. ⁶¹	Schultz DB...Teive HAG	32497992	2020
47	Teaching NeuroImages: Retinopathy in spinocerebellar ataxia type 3. ⁶¹	Nascimento FA...Teive HAG	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	Stoean C...Joya G	32471077	2020
49	Testosterone Levels Are Decreased and Associated with Disease Duration in Male Spinocerebellar Ataxia Type 2 Patients. ⁶¹	Almaguer-Mederos LE...Rodriguez-Estupinan A	32440846	2020
50	Clinical and Genetic Characterization of Autosomal Recessive Spinocerebellar Ataxia Type 16 (SCAR16) in Taiwan. ⁶¹	Chiu HH...Soong BW	32367277	2020

Sources

Genes for Autosomal Dominant Cerebellar Ataxia

Genes related to Autosomal Dominant Cerebellar Ataxia (3 elite genes):

(show top 50) (show all 96)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	ATXN8OS	ATXN8 Opposite Strand LncRNA	RNA Gene	157.93	Experimental evidence ³⁸ DISEASES inferred ¹⁵	27338628
2	SCAANT1	SCA7/ATXN7 Antisense RNA 1	RNA Gene	156.67	Experimental evidence ³⁸ DISEASES inferred ¹⁵	27338628
3	SCA18	Spinocerebellar Ataxia 18 (Sensory With Neurogenic Muscular Atrophy)	Genetic Locus	50	MalaCards inferred ⁴⁰
4	SCA25	Spinocerebellar Ataxia 25	Genetic Locus	50	MalaCards inferred ⁴⁰
5	SCA30	Spinocerebellar Ataxia 30	Genetic Locus	50	MalaCards inferred ⁴⁰
6	CACNA1A	Calcium Voltage-Gated Channel Subunit Alpha1 A	Protein Coding	26.3	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications (show sections)
7	PPP2R2B	Protein Phosphatase 2 Regulatory Subunit Bbeta	Protein Coding	24.96	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications (show sections)
8	TBP	TATA-Box Binding Protein	Protein Coding	24.67	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications (show sections)
9	PRKCG	Protein Kinase C Gamma	Protein Coding	24.62	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications (show sections)
10	AFG3L2	AFG3 Like Matrix AAA Peptidase Subunit 2	Protein Coding	24.61	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications (show sections)
11	KCNC3	Potassium Voltage-Gated Channel Subfamily C Member 3	Protein Coding	24.52	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications (show sections)
12	FGF14	Fibroblast Growth Factor 14	Protein Coding	24.1	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications (show sections)
13	TTBK2	Tau Tubulin Kinase 2	Protein Coding	23.88	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications (show sections)
14	ATXN7	Ataxin 7	Protein Coding	18.79	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
15	ATXN1	Ataxin 1	Protein Coding	18.52	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
16	ATXN3	Ataxin 3	Protein Coding	18.35	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
17	ATXN2	Ataxin 2	Protein Coding	17.75	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
18	ATXN10	Ataxin 10	Protein Coding	16.69	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders (show sections)
19	SPTBN2	Spectrin Beta, Non-Erythrocytic 2	Protein Coding	16.37	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders (show sections)
20	PLEKHG4	Pleckstrin Homology And RhoGEF Domain Containing G4	Protein Coding	15.78	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
21	ITPR1	Inositol 1,4,5-Trisphosphate Receptor Type 1	Protein Coding	15.58	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders (show sections)
22	ATN1	Atrophin 1	Protein Coding	14.58	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
23	PDYN	Prodynorphin	Protein Coding	14.15	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
24	KCND3	Potassium Voltage-Gated Channel Subfamily D Member 3	Protein Coding	14.15	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
25	CACNA1G	Calcium Voltage-Gated Channel Subunit Alpha1 G	Protein Coding	12.82	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
26	DNMT1	DNA Methyltransferase 1	Protein Coding	12.69	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
27	CACNA1C	Calcium Voltage-Gated Channel Subunit Alpha1 C	Protein Coding	11.93	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
28	PLA2G1B	Phospholipase A2 Group IB	Protein Coding	10.31	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
29	ERCC6	ERCC Excision Repair 6, Chromatin Remodeling Factor	Protein Coding	9.99	DISEASES inferred ¹⁵ ¹⁵
30	H2AC18	H2A Clustered Histone 18	Protein Coding	9.75	DISEASES inferred ¹⁵ ¹⁵
31	SERPINA3	Serpin Family A Member 3	Protein Coding	9.67	DISEASES inferred ¹⁵ ¹⁵
32	MIR9-1	MicroRNA 9-1	RNA Gene	9.42	DISEASES inferred ¹⁵ ¹⁵
33	HTT	Huntingtin	Protein Coding	8.5	DISEASES inferred ¹⁵
34	TDP1	Tyrosyl-DNA Phosphodiesterase 1	Protein Coding	8.23	DISEASES inferred ¹⁵
35	FXN	Frataxin	Protein Coding	7.94	DISEASES inferred ¹⁵
36	APTX	Aprataxin	Protein Coding	7.84	DISEASES inferred ¹⁵
37	COPS5	COP9 Signalosome Subunit 5	Protein Coding	7.75	DISEASES inferred ¹⁵
38	ATXN8	Ataxin 8	Protein Coding	7.74	GeneCards inferred via : Disorders (show sections)
39	NOP56	NOP56 Ribonucleoprotein	Protein Coding	7.72	DISEASES inferred ¹⁵
40	C9orf72	C9orf72-SMCR8 Complex Subunit	Protein Coding	7.69	DISEASES inferred ¹⁵
41	MBNL1	Muscleblind Like Splicing Regulator 1	Protein Coding	7.62	DISEASES inferred ¹⁵
42	LOC108660406	Ataxin 7 Repeat Instability Region	Biological Region	7.52	GeneCards inferred via : Publications (show sections)
43	SNCA	Synuclein Alpha	Protein Coding	7.44	DISEASES inferred ¹⁵
44	LOC108663993	Ataxin 1 Repeat Instability Region	Biological Region	7.41	GeneCards inferred via : Publications (show sections)
45	MIR24-1	MicroRNA 24-1	RNA Gene	7.4	DISEASES inferred ¹⁵ ¹⁵
46	CRYAA	Crystallin Alpha A	Protein Coding	7.34	DISEASES inferred ¹⁵ ¹⁵
47	DMPK	DM1 Protein Kinase	Protein Coding	7.33	DISEASES inferred ¹⁵
48	AR	Androgen Receptor	Protein Coding	7.3	DISEASES inferred ¹⁵
49	TWNK	Twinkle MtDNA Helicase	Protein Coding	7.3	DISEASES inferred ¹⁵
50	PNKP	Polynucleotide Kinase 3'-Phosphatase	Protein Coding	7.2	DISEASES inferred ¹⁵

Sources

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>T	SNV	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>G	SNV	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>A	SNV	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>C	SNV	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>T	SNV	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>A	SNV	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

Sources

Expression for Autosomal Dominant Cerebellar Ataxia

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

Sources

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	Akt Signaling ⁶³ Show member pathways p38 Signaling ⁶³ Tec Kinases Signaling ⁶³	12.7	PRKCG PPP2R2B FGF14 ATXN7 ATXN3 ATXN2
2	Chks in Checkpoint Regulation ⁶³ Show member pathways DNA Repair Mechanisms ⁶³ Estrogen-mediated S-Phase Entry ⁶³ G2-M Phase Transition ⁶³ Parkinson's Disease Pathway ⁶³ SREBP Proteolysis ⁶³	12.16	ATXN7 ATXN3 ATXN2 ATXN10 ATXN1
3	Dopamine-DARPP32 Feedback onto cAMP Pathway ⁶³	11.92	PRKCG PPP2R2B KCNC3 CACNA1A
4	Spinocerebellar ataxia ³⁶	11.53	TBP SPTBN2 PRKCG KCNC3 FGF14 CACNA1A

Sources

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

Sources for Autosomal Dominant Cerebellar Ataxia

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Autosomal Dominant Cerebellar Ataxia (SCA)

Aliases & Classifications for Autosomal Dominant Cerebellar Ataxia

MalaCards integrated aliases for Autosomal Dominant Cerebellar Ataxia:

Characteristics:

Orphanet epidemiological data:

Classifications:

External Ids:

Summaries for Autosomal Dominant Cerebellar Ataxia

Related Diseases for Autosomal Dominant Cerebellar Ataxia

Diseases in the Autosomal Dominant Cerebellar Ataxia family:

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

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

Symptoms & Phenotypes for Autosomal Dominant Cerebellar Ataxia

Human phenotypes related to Autosomal Dominant Cerebellar Ataxia:

UMLS symptoms related to Autosomal Dominant Cerebellar Ataxia:

MGI Mouse Phenotypes related to Autosomal Dominant Cerebellar Ataxia:

Drugs & Therapeutics for Autosomal Dominant Cerebellar Ataxia

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

Interventional clinical trials:

Genetic Tests for Autosomal Dominant Cerebellar Ataxia

Anatomical Context for Autosomal Dominant Cerebellar Ataxia

MalaCards organs/tissues related to Autosomal Dominant Cerebellar Ataxia:

Publications for Autosomal Dominant Cerebellar Ataxia

Articles related to Autosomal Dominant Cerebellar Ataxia:

Genes for Autosomal Dominant Cerebellar Ataxia

Genes related to Autosomal Dominant Cerebellar Ataxia (3 elite genes):

Variations for Autosomal Dominant Cerebellar Ataxia

ClinVar genetic disease variations for Autosomal Dominant Cerebellar Ataxia:

Expression for Autosomal Dominant Cerebellar Ataxia

Pathways for Autosomal Dominant Cerebellar Ataxia

Pathways related to Autosomal Dominant Cerebellar Ataxia according to KEGG:

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

GO Terms for Autosomal Dominant Cerebellar Ataxia

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

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

Sources for Autosomal Dominant Cerebellar Ataxia