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

GARD: ¹⁹ 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. ADCAs include the autosomal dominant spinocerebellar ataxias (SCAs), all of the episodic ataxias (EAs) and the one dominant type of spastic ataxia (SPAX1). Genetic changes 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.

MalaCards based summary: Autosomal Dominant Cerebellar Ataxia, also known as spinocerebellar ataxia, is related to spinocerebellar ataxia 7 and spinocerebellar ataxia, autosomal recessive 4, 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 Akt Signaling and MAPK signaling pathway. The drugs Nootropic Agents and TA 0910 have been mentioned in the context of this disorder. Affiliated tissues include cerebellum, cortex and brain, and related phenotypes are progressive cerebellar ataxia and abnormal pyramidal sign

Orphanet: ⁵⁸ A clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1). In ACDA type 4, a cerebellar syndrome is associated with epilepsy.

Disease Ontology: ¹¹ A cerebellar ataxia that has material basis in autosomal dominant inheritance.

Wikipedia ⁷⁵ Autosomal dominant cerebellar ataxia: Autosomal dominant cerebellar ataxia (ADCA) is a form of spinocerebellar ataxia inherited in an... more...

Pierre marie cerebellar ataxia: Pierre Marie (9 September 1853 - 13 April 1940) was a French neurologist and political journalist close... more...

Spinocerebellar ataxia: 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 717)

#	Related Disease	Score	Top Affiliating Genes
1	spinocerebellar ataxia 7	33.6	SCAANT1 ATXN8OS ATXN7 ATXN3 ATXN2 ATXN1
2	spinocerebellar ataxia, autosomal recessive 4	33.5	PPP2R2B KCNC3 CACNA1A ATXN7
3	spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	33.5	CACNA1A ATXN7 ATXN1
4	spinocerebellar ataxia, autosomal recessive 8	33.4	PPP2R2B POLG CACNA1A ATXN7
5	spinocerebellar ataxia, autosomal recessive 17	33.4	PRKCG KIF26B KCNC3 CACNA1A AFG3L2
6	spinocerebellar ataxia 13	33.3	TTBK2 PRKCG KCNC3 FGF14
7	spinocerebellar ataxia, x-linked 1	33.3	TTBK2 KCNC3 FGF14 AFG3L2
8	spinocerebellar ataxia, autosomal recessive 14	33.2	CACNA1A AFG3L2
9	spinocerebellar ataxia 17	33.2	TBP PPP2R2B FGF14 CACNA1A ATXN8OS ATXN7
10	spinocerebellar ataxia 12	33.2	TBP PPP2R2B CACNA1A ATXN8OS ATXN7 ATXN3
11	spinocerebellar ataxia 6	33.2	TBP PRKCG PPP2R2B KCNC3 CACNA1A ATXN8OS
12	spinocerebellar ataxia 1	33.1	TBP PRKCG PPP2R2B KCNC3 CACNA1A ATXN7
13	machado-joseph disease	33.1	TBP PRKCG PPP2R2B POLG LRRK2 KCNC3
14	sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	33.1	POLG ATXN10 AFG3L2
15	spinocerebellar ataxia 10	33.1	PPP2R2B ATXN8OS ATXN7 ATXN3 ATXN2 ATXN10
16	spinocerebellar ataxia 14	33.1	PRKCG CACNA1A ATXN7 ATXN2 ATXN1
17	dentatorubral-pallidoluysian atrophy	33.1	TTBK2 TBP PRKCG PPP2R2B KCNC3 FGF14
18	spinocerebellar ataxia 8	33.1	SCAANT1 PPP2R2B CACNA1A ATXN8OS ATXN7 ATXN3
19	spinocerebellar ataxia 40	33.0	TTBK2 TBP PPP2R2B KCNC3 FGF14 CACNA1A
20	spinocerebellar ataxia 2	33.0	CACNA1A ATXN8OS ATXN7 ATXN3 ATXN2 ATXN10
21	friedreich ataxia	33.0	TBP PRKCG PPP2R2B POLG KCNC3 CACNA1A
22	spinocerebellar ataxia 15	33.0	PRKCG KCNC3 ATXN2 AFG3L2
23	spinocerebellar ataxia 31	33.0	CACNA1A ATXN8OS ATXN10
24	spinocerebellar ataxia 18	32.9	SCA18 CACNA1A ATXN1 AFG3L2
25	spinocerebellar ataxia 4	32.9	ATXN7 ATXN2 ATXN1
26	spinocerebellar ataxia 27	32.9	FGF14 CACNA1A
27	spinocerebellar ataxia type 19/22	32.8	KCNC3 FGF14
28	spinocerebellar ataxia 30	32.8	TTBK2 SCA30
29	spinocerebellar ataxia 36	32.8	PPP2R2B ATXN8OS ATXN2 ATXN10
30	spinocerebellar ataxia 35	32.8	TTBK2 ATXN10 AFG3L2
31	spinocerebellar ataxia 21	32.7	ATXN10 AFG3L2
32	cerebellar ataxia type 48	32.7	TBP PRKCG CACNA1A ATXN7 ATXN3 ATXN1
33	spinocerebellar ataxia 37	32.6	ATXN8OS ATXN10
34	cerebellar ataxia type 43	32.6	TTBK2 PRKCG KCNC3 FGF14 AFG3L2
35	cerebellar ataxia type 42	32.5	PRKCG ATXN7
36	cerebellar ataxia type 41	32.5	TTBK2 KCNC3
37	cerebellar ataxia type 47	32.4	KCNC3 ATXN1
38	hereditary ataxia	32.4	TTBK2 TBP PRKCG PPP2R2B POLG KCNC3
39	aceruloplasminemia	32.2	PRKCG CACNA1A AFG3L2
40	mitochondrial complex iii deficiency, nuclear type 2	32.0	POLG ATXN7
41	amyotrophic lateral sclerosis 1	31.9	TBP LRRK2 CACNA1A ATXN7 ATXN3 ATXN2
42	cerebellar disease	31.6	TTBK2 TBP PRKCG PPP2R2B POLG LRRK2
43	restless legs syndrome	31.5	TBP CACNA1A ATXN7 ATXN3 ATXN2 ATXN1
44	kearns-sayre syndrome	31.5	POLG CACNA1A ATXN7 AFG3L2
45	spinal and bulbar muscular atrophy, x-linked 1	31.4	TBP PPP2R2B KCNC3 CACNA1A ATXN7 ATXN3
46	spastic ataxia	31.4	TTBK2 PRKCG PPP2R2B POLG KCNC3 FGF14
47	olivopontocerebellar atrophy	31.4	TBP PPP2R2B CACNA1A ATXN7 ATXN2 ATXN10
48	dystonia	31.3	PRKCG POLG LRRK2 CACNA1A ATXN7 ATXN3
49	primary cerebellar degeneration	31.3	CACNA1A ATXN3 ATXN2 ATXN1
50	3-methylglutaconic aciduria, type iii	31.2	POLG LRRK2 ATXN7 AFG3L2

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 ³⁰ (show top 50) (show all 74)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	progressive cerebellar ataxia ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0002073
2	abnormal pyramidal sign ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0007256
3	gait disturbance ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0001288
4	muscle weakness ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0001324
5	hyporeflexia ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0001265
6	polyneuropathy ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0001271
7	hyperactive deep tendon reflexes ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0006801
8	paraparesis ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0002385
9	hand tremor ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0002378
10	sensory axonal neuropathy ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0003390
11	cns demyelination ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0007305
12	long-tract signs ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0002423
13	spasticity ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0001257
14	ptosis ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000508
15	nystagmus ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000639
16	behavioral abnormality ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000708
17	sensorineural hearing impairment ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000407
18	skeletal muscle atrophy ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0003202
19	hyperkeratosis ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000962
20	areflexia ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0001284
21	proptosis ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000520
22	intellectual disability, moderate ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0002342
23	dysgraphia ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0010526
24	pes cavus ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0001761
25	erythema ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0010783
26	ophthalmoparesis ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000597
27	impaired vibratory sensation ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0002495
28	rigidity ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0002063
29	choreoathetosis ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0001266
30	horizontal supranuclear gaze palsy ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0007817
31	macular degeneration ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000608
32	dementia ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000726
33	pigmentary retinopathy ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000580
34	visual loss ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000572
35	akinesia ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0002304
36	parkinsonism ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0001300
37	pseudobulbar paralysis ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0007024
38	sensorimotor neuropathy ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0007141
39	resting tremor ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0002322
40	slow saccadic eye movements ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000514
41	postural tremor ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0002174
42	tongue fasciculations ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0001308
43	tongue atrophy ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0012473
44	orofacial dyskinesia ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0002310
45	laryngeal dystonia ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0012049
46	distal peripheral sensory neuropathy ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0007067
47	hypermetric saccades ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0007338
48	dense calcifications in the cerebellar dentate nucleus ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0002461
49	palatal tremor ³⁰	Occasional (7.5%)		HP:0010530
50	focal seizure with eyelid myoclonia ³⁰	Occasional (7.5%)		HP:0011168

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	nervous system	MP:0003631	9.97	AFG3L2 ATXN1 ATXN2 ATXN3 ATXN7 CACNA1A
2	muscle	MP:0005369	9.5	AFG3L2 ATXN1 ATXN7 CACNA1A FGF14 KCNC3
3	behavior/neurological	MP:0005386	9.44	AFG3L2 ATXN1 ATXN2 ATXN3 ATXN7 CACNA1A

Sources

Drugs & Therapeutics for Autosomal Dominant Cerebellar Ataxia

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

(show all 41)

#

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

1

Nootropic Agents

Phase 4

2

TA 0910

Phase 4

3

Riluzole

Approved, Investigational

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

Neurotransmitter Agents

Phase 3

7

Neuroprotective Agents

Phase 3

8

Excitatory Amino Acid Antagonists

Phase 3

9

Anticonvulsants

Phase 3

10

Protective Agents

Phase 3

11

Psychotropic Drugs

Phase 2, Phase 3

12

Antidepressive Agents

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, Experimental

Phase 2

1490-04-6, 2216-51-5, 15356-60-2

1254 16666 165675

17

Nicotinic Agonists

Phase 2

18

Cholinergic Agents

Phase 2

19

Immunoglobulins, Intravenous

Phase 2

20

Immunoglobulins

Phase 2

21

Antibodies

Phase 2

22

gamma-Globulins

Phase 2

23

Rho(D) Immune Globulin

Phase 2

24

Immunologic Factors

Phase 2

25

Ubidecarenone

Approved, Investigational, Nutraceutical

Phase 1

303-98-0

5281915

26

Pharmaceutical Solutions

Phase 1

27

Vitamins

Phase 1

28

Trace Elements

Phase 1

29

Ubiquinone

Phase 1

30

Micronutrients

Phase 1

31

Dopamine

Approved

62-31-7, 51-61-6

681

32

Benzocaine

Approved, Investigational

1994-09-7, 94-09-7

2337

33

Tannic acid

Approved

1401-55-4

16129878 16129778

34

Dalfampridine

Approved

504-24-5

1727

35

Triamcinolone

Approved, Vet_approved

124-94-7

31307

36

Dopamine agonists

37

Omega 3 Fatty Acid

38

Potassium Channel Blockers

39

Triamcinolone hexacetonide

40

Triamcinolone diacetate

41

Triamcinolone Acetonide

6436

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	Unknown status	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	Completed	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 Long-Term Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD)	Completed	NCT01970124	Phase 3	KPS-0373, High dose;KPS-0373, Low dose
6	An Extension Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD)	Completed	NCT01970111	Phase 3	KPS-0373, High dose;KPS-0373, Low dose
7	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
8	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
9	An Additional Phase III Confirmatory Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD)	Completed	NCT02889302	Phase 3	KPS-0373;Placebo
10	A Double-blind, Randomized, Placebo Controlled, Trial to Assess Safety and Efficacy of SLS-005 (Trehalose Injection, 90.5 mg/mL for Intravenous Infusion) for the Treatment of Adults With Spinocerebellar Ataxia	Recruiting	NCT05490563	Phase 2, Phase 3	SLS-005;Placebo
11	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
12	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
13	An Open Pilot Trial of BHV-4157 in Adult Subjects With Cerebellar Ataxia	Active, not recruiting	NCT03408080	Phase 3	BHV-4157
14	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
15	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	Completed	NCT02540655	Phase 2
16	Randomized, Placebo-controlled Trial to Test Safety, Tolerability and Efficacy of Lithium Carbonate in Spinocerebellar Ataxia 2	Completed	NCT00998634	Phase 2	LITHIUM CARBONATE
17	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
18	Safety and Efficacy of Intravenous Immune Globulin in Treating Spinocerebellar Ataxia	Completed	NCT01350440	Phase 2
19	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
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	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)
23	Chinese Medicine WT for Elevating IGF-1 of Patients With Spinocerebellar Ataxia Type 3 - Pilot Study	Recruiting	NCT05038306	Phase 2	Chinese medicine WT
24	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
25	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)	Withdrawn	NCT04301284	Phase 2	CAD-1883;Placebos
26	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
27	An Open-label Trial of Intravenous Immune Globulin (IVIG)in Treating Spinocerebellar Ataxias	Unknown status	NCT02287064	Phase 1	Intravenous Immune Globulin (IVIG)
28	Pilot Study of Tolerability of Lithium Therapy in Patients With Spinocerebellar Ataxia Type I (SCA1)	Completed	NCT00683943	Phase 1	Lithium Carbonate
29	Safety and Tolerability of Coenzyme Q10 in Adult-Onset Sporadic Spinocerebellar Ataxia	Completed	NCT00957216	Phase 1	Placebo (sugar pill);Coenzyme Q10
30	A Phase 1, Blinded, Randomized, Placebo-controlled Study to Investigate the Safety, Tolerability, and Pharmacokinetics of Multiple Ascending Doses of BIIB132 Administered Intrathecally to Adults With Spinocerebellar Ataxia 3	Recruiting	NCT05160558	Phase 1	BIIB132;BIIB132-Matching Placebo
31	Natural History of Oculomotor Neurophysiology in Ataxic and Pre-ataxic Carriers of Machado-Joseph Disease/Spinocerebellar Ataxia Type 3 (SCA3/MJD)	Unknown status	NCT04229823
32	Biomarkers and Genetic Modifiers in a Study of Pre-ataxic and Ataxic SCA3/MJD Carriers (BIGPRO Study) - Astrocytes	Unknown status	NCT04419974
33	Slowing Down Disease Progression in Premanifest SCA: a Piloting Interventional Exergame Trial	Unknown status	NCT02867969
34	Machado-Joseph Disease in Israel: Clinical Phenotype and Genotype of a Jew Yemenite Subpopulation	Unknown status	NCT02175290
35	Identification of Biomarkers in Patients With Autosomal Dominant Cerebellar Ataxia	Completed	NCT01470729
36	Cerebello-Spinal tDCS as Rehabilitative Intervention in Neurodegenerative Ataxias: a Randomized, Double-blind, Sham-controlled Trial Followed by an Open-label Phase	Completed	NCT04153110
37	Rehabilitative Trial With Cerebello-Spinal tDCS for the Treatment of Neurodegenerative Ataxia	Completed	NCT03120013
38	Characterization of the Parkinsonism and Other Non-ataxia Spectrum and Striatal Dopaminergic Degeneration in Spinocerebellar Ataxia Type 6	Completed	NCT01934998
39	Neuromuscular Electrical Stimulation on Median Nerve Facilitates Low Motor Cortex Excitability in Human With Spinocerebellar Ataxia	Completed	NCT02103075
40	Integrative Medicine and Tai-chi in Clinical Status of Spinocerebellar Ataxia	Completed	NCT03687190		conventional medicine
41	Translating Molecular Pathology Into a Therapeutic Strategy in SCA38, a Newly Identified Form of Spinocerebellar Ataxia	Completed	NCT03109626
42	Clinical Effects of Oral Trehalose In Patients With Spinocerebellar Ataxia 3: A Pilot Study	Completed	NCT04426149
43	Pathogenic Mechanism of Spinocerebellar Ataxia Type 10 (SCA10)	Completed	NCT00004306
44	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)	Completed	NCT01037777
45	A Prospective, Randomized, Controlled Trial for the Efficacy of Repetitive Transcranial Magnetic Stimulation in Spinocerebellar Ataxia Type 3	Completed	NCT05502432
46	The Effect of Whole Body Vibration Training on Neuromuscular Property in Individuals With Ataxia	Completed	NCT01983631
47	Transcranial Magnetic Stimulation (TMS) in Spino-Cerebellar Ataxia	Completed	NCT01975909
48	Utility Of Home Based Gait Monitoring, Performance Scores And Functional Visual Assessment In Spinocerebellar Ataxias (SCA)	Completed	NCT00654251
49	Dysmetria in Motor Function in SCA: Mechanisms and Rehabilitation	Completed	NCT02488031
50	Preliminary Study of the Scale To Assess Ataxia and Neurologic Dysfunction (STAND)	Completed	NCT02179333

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

Organs/tissues related to Autosomal Dominant Cerebellar Ataxia:

MalaCards : Cerebellum, Cortex, Brain, Retina, Skeletal Muscle, Tongue, Eye

Sources

Publications for Autosomal Dominant Cerebellar Ataxia

Articles related to Autosomal Dominant Cerebellar Ataxia:

(show top 50) (show all 5440)

#	Title	Authors	PMID	Year
1	Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. ⁵	Nykamp K...Topper S	28492532	2017
2	Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood. ⁵	Ohba C...Saitsu H	24091540	2013
3	Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum. ⁵	Tang S...Wong LJ	21880868	2011
4	Purification and functional characterization of human mitochondrial DNA polymerase gamma harboring disease mutations. ⁵	Kasiviswanathan R...Copeland WC	20176107	2010
5	A variable neurodegenerative phenotype with polymerase gamma mutation. ⁵	Stricker S...Meisel A	19762913	2009
6	R964C mutation of DNA polymerase gamma imparts increased stavudine toxicity by decreasing nucleoside analog discrimination and impairing polymerase activity. ⁵	Bailey CM...Anderson KS	19364868	2009
7	Molecular and clinical genetics of mitochondrial diseases due to POLG mutations. ⁵	Wong LJ...Copeland WC	18546365	2008
8	Analysis of Lrrk2 R1628P as a risk factor for Parkinson's disease. ⁵	Ross OA...Wu RM	18412265	2008
9	LRRK2 Parkinson Disease ⁵	Saunders-Pullman R...Elango S	20301387	2006
10	Localized cerebral energy failure in DNA polymerase gamma-associated encephalopathy syndromes. ⁵³ ⁶²	Tzoulis C...Bindoff LA	20400524	2010
11	Evidence against haploinsuffiency of human ataxin 10 as a cause of spinocerebellar ataxia type 10. ⁵³ ⁶²	Keren B...Heron D	19936807	2010
12	SCA17 repeat expansion: mildly expanded CAG/CAA repeat alleles in neurological disorders and the functional implications. ⁵³ ⁶²	Chen CM...Wu YR	20004653	2010
13	High frequency of Machado-Joseph disease identified in southeastern Chinese kindreds with spinocerebellar ataxia. ⁵³ ⁶²	Gan SR...Wu ZY	20334689	2010
14	TDP1 serine 81 promotes interaction with DNA ligase IIIalpha and facilitates cell survival following DNA damage. ⁵³ ⁶²	Chiang SC...El-Khamisy SF	20009512	2010
15	[Studies on the CAG repeat expansion in patients with hereditary spinocerebellar ataxia from Chinese Han]. ⁵³ ⁶²	Wang J...Tang B	19953482	2009
16	Alu-mediated acquisition of unstable ATTCT pentanucleotide repeats in the human ATXN10 gene. ⁵³ ⁶²	Kurosaki T...Ueda S	19651850	2009
17	Protein kinase C gamma, a protein causative for dominant ataxia, negatively regulates nuclear import of recessive-ataxia-related aprataxin. ⁵³ ⁶²	Asai H...Ueno S	19561170	2009
18	Mutation analysis of the TATA box-binding protein (TBP) gene in Chinese Han patients with spinocerebellar ataxia. ⁵³ ⁶²	Xu Q...Tang BS	19581089	2009
19	Neuropsychological performance in patients with POLG1 mutations and the syndrome of mitochondrial spinocerebellar ataxia and epilepsy. ⁵³ ⁶²	Gramstad A...Engelsen BA	19435586	2009
20	Hypergonadotropic hypogonadism in spinocerebellar ataxia type 2: a case report. ⁵³ ⁶²	Kwon DY...Park MH	19473475	2009
21	Expansion of CAG repeats in the spinocerebellar ataxia type 1 (SCA1) gene in idiopathic oligozoospermia patients. ⁵³ ⁶²	Lai YC...Li SY	19597981	2009
22	Utilizing linkage disequilibrium information from Indian Genome Variation Database for mapping mutations: SCA12 case study. ⁵³ ⁶²	Bahl S...Mukerji M	19417544	2009
23	Expansion of the phenotypic spectrum of SCA14 caused by the Gly128Asp mutation in PRKCG. ⁵³ ⁶²	Miura S...Taniwaki T	18986758	2009
24	FGF14 regulates the intrinsic excitability of cerebellar Purkinje neurons. ⁵³ ⁶²	Shakkottai VG...Yamada KA	18930825	2009
25	Screening for premutation in the FMR1 gene in male patients suspected of spinocerebellar ataxia. ⁵³ ⁶²	Rajkiewicz M...Zaremba J	19235102	2008
26	[Molecular and genetic analysis of spinocerebellar ataxia type 10 (SCA10)]. ⁵³ ⁶²	Matsuura T	19198092	2008
27	SCA8 mRNA expression suggests an antisense regulation of KLHL1 and correlates to SCA8 pathology. ⁵³ ⁶²	Chen WL...Hsieh-Li HM	18708037	2008
28	PKC gamma mutations in spinocerebellar ataxia type 14 affect C1 domain accessibility and kinase activity leading to aberrant MAPK signaling. ⁵³ ⁶²	Verbeek DS...Reits EA	18577575	2008
29	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. ⁵³ ⁶²	Sulek-Piatkowska A...Zaremba J	18651325	2008
30	Tyrosyl-DNA phosphodiesterase as a target for anticancer therapy. ⁵³ ⁶²	Dexheimer TS...Pommier Y	18473723	2008
31	Trinucleotide expansions in the SCA7 gene in a large family with spinocerebellar ataxia and craniocervical dystonia. ⁵³ ⁶²	Lin Y...Jin ZB	18325672	2008
32	[Molecular and genetic analysis of spinocerebellar ataxia type 10 (SCA10)]. ⁵³ ⁶²	Matsuura T	18386626	2008
33	Premutations in the FMR1 gene are uncommon in men undergoing genetic testing for spinocerebellar ataxia. ⁵³ ⁶²	Adams SA...Lindor NM	18363164	2008
34	Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11. ⁵³ ⁶²	Houlden H...Wood NW	18037885	2007
35	Spinocerebellar ataxia type 17 (SCA17): oculomotor phenotype and clinical characterization of 15 Italian patients. ⁵³ ⁶²	Mariotti C...Di Donato S	17934876	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. ⁵³ ⁶²	Liu G...Leffak M	17846122	2007
37	The ubiquitin proteasome system in Huntington's disease and the spinocerebellar ataxias. ⁵³ ⁶²	Davies JE...Rubinsztein DC	18047739	2007
38	Protection from ataxia-linked apoptosis by gap junction inhibitors. ⁵³ ⁶²	Lin D...Takemoto DJ	17822669	2007
39	The neurodegenerative disease protein ataxin-1 antagonizes the neuronal survival function of myocyte enhancer factor-2. ⁵³ ⁶²	Bolger TA...Yao TP	17646162	2007
40	TDP1 facilitates repair of ionizing radiation-induced DNA single-strand breaks. ⁵³ ⁶²	El-Khamisy SF...Caldecott KW	17600775	2007
41	Another mutation in cysteine 131 in protein kinase C gamma as a cause of spinocerebellar ataxia type 14. ⁵³ ⁶²	Klebe S...Durr A	17562946	2007
42	Anticipation and intergenerational repeat instability in spinocerebellar ataxia type 17. ⁵³ ⁶²	Rasmussen A...Bidichandani SI	17474109	2007
43	PRKCG mutation (SCA-14) causing a Ramsay Hunt phenotype. ⁵³ ⁶²	Visser JE...van de Warrenburg BP	17343273	2007
44	DNA single-strand break repair and spinocerebellar ataxia with axonal neuropathy-1. ⁵³ ⁶²	el-Khamisy SF...Caldecott KW	17045754	2007
45	Mechanisms of ataxin-3 misfolding and fibril formation: kinetic analysis of a disease-associated polyglutamine protein. ⁵³ ⁶²	Ellisdon AM...Bottomley SP	17362987	2007
46	Case of spinocerebellar ataxia type 17 (SCA17) associated with only 41 repeats of the TATA-binding protein (TBP) gene. ⁵³ ⁶²	Nanda A...Metzer WS	17149738	2007
47	Hereditary ataxia SCAN1 cells are defective for the repair of transcription-dependent topoisomerase I cleavage complexes. ⁵³ ⁶²	Miao ZH...Pommier Y	16935573	2006
48	Structure validation of the Josephin domain of ataxin-3: conclusive evidence for an open conformation. ⁵³ ⁶²	Nicastro G...Pastore A	17096206	2006
49	Regulation of retrotranslocation by p97-associated deubiquitinating enzyme ataxin-3. ⁵³ ⁶²	Wang Q...Ye Y	17000876	2006
50	Identification of a new family of spinocerebellar ataxia type 14 in the Japanese spinocerebellar ataxia population by the screening of PRKCG exon 4. ⁵³ ⁶²	Hiramoto K...Sakai N	16763984	2006

Sources

Genes for Autosomal Dominant Cerebellar Ataxia

Genes related to Autosomal Dominant Cerebellar Ataxia (5 elite genes):

(show top 50) (show all 134)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	POLG	DNA Polymerase Gamma, Catalytic Subunit	Protein Coding	413.68	Pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³	20176107 19364868 19762913 (more) 24091540 18546365 21880868 28492532 19435586 20400524
2	LRRK2	Leucine Rich Repeat Kinase 2	Protein Coding	406.51	Pathogenic ⁵ DISEASES inferred ¹⁴	20301387 18412265
3	KIF26B	Kinesin Family Member 26B	Protein Coding	404.16	Pathogenic ⁵ DISEASES inferred ¹⁴
4	SCA18	Spinocerebellar Ataxia 18 (Sensory With Neurogenic Muscular Atrophy)	Genetic Locus	50	MalaCards inferred ³⁹
5	SCA30	Spinocerebellar Ataxia 30	Genetic Locus	50	MalaCards inferred ³⁹
6	ATXN8OS	ATXN8 Opposite Strand LncRNA	RNA Gene	168.65	Experimental evidence ³⁷ DISEASES inferred ¹⁴ Novoseek inferred ⁵³	27338628 18708037 16184604
7	SCAANT1	SCA7/ATXN7 Antisense RNA 1	RNA Gene	156.21	Experimental evidence ³⁷ DISEASES inferred ¹⁴	27338628
8	ATXN7	Ataxin 7	Protein Coding	38.73	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications Gene name (show sections)	18325672 19953482 10369884 (more) 10453742
9	CACNA1A	Calcium Voltage-Gated Channel Subunit Alpha1 A	Protein Coding	37.22	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications (show sections)	16876337 16325861 19953482 (more) 10369884 10453742 8988170 15775664
10	PPP2R2B	Protein Phosphatase 2 Regulatory Subunit Bbeta	Protein Coding	36.54	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications (show sections)	16138911 19417544 19953482
11	TBP	TATA-Box Binding Protein	Protein Coding	35.55	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications (show sections)	19581089 15521976 17149738 (more) 15365789 12891385 15989694 11563629 17934876 11448935 14756671 20004653 14967767 18651325 12758065 17474109
12	PRKCG	Protein Kinase C Gamma	Protein Coding	35.52	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications (show sections)	18577575 16763984 15313841 (more) 17562946 16828200 19561170 17343273 18986758 17024314 14676051 16291902 17822669 15618281
13	FGF14	Fibroblast Growth Factor 14	Protein Coding	33.98	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications (show sections)	16211615 18930825
14	ATXN3	Ataxin 3	Protein Coding	28.89	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	15140190 7655453 15316156 (more) 16791428 11563629 11133357 10453742 17096206 9852144 10369884 17000876 20334689 8931575 17362987
15	ATXN1	Ataxin 1	Protein Coding	28.29	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	7925830 10374379 9801928 (more) 19597981 15893665 10369884 10453742 17646162 8619528 9225982 12651867 15750336 16277991 16831871
16	ATXN10	Ataxin 10	Protein Coding	27.61	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders (show sections)	15201271 15505178 17846122 (more) 18386626 19198092 11017075 19936807 15970586 19651850
17	AFG3L2	AFG3 Like Matrix AAA Peptidase Subunit 2	Protein Coding	24.87	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
18	KCNC3	Potassium Voltage-Gated Channel Subfamily C Member 3	Protein Coding	24.57	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
19	TTBK2	Tau Tubulin Kinase 2	Protein Coding	23.68	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
20	ATXN2	Ataxin 2	Protein Coding	20.23	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	9339681 10090679 11563629 (more) 9339711 9710044 10369884 10453742 19473475
21	ATN1	Atrophin 1	Protein Coding	18.75	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	10453742 15148151 18651325
22	TDP1	Tyrosyl-DNA Phosphodiesterase 1	Protein Coding	18.71	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	16141202 16793421 17600775 (more) 20009512 15333697 15647511 18473723 16935573 15920477 15744309 17045754
23	FXN	Frataxin	Protein Coding	17.31	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	9339708
24	SPTBN2	Spectrin Beta, Non-Erythrocytic 2	Protein Coding	15.88	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
25	HTT	Huntingtin	Protein Coding	15.25	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	7774118
26	ITPR1	Inositol 1,4,5-Trisphosphate Receptor Type 1	Protein Coding	15.09	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
27	TTPA	Alpha Tocopherol Transfer Protein	Protein Coding	14.56	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	10082886 16491383
28	KCNA1	Potassium Voltage-Gated Channel Subfamily A Member 1	Protein Coding	14.12	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	7762567
29	FMR1	Fragile X Messenger Ribonucleoprotein 1	Protein Coding	13.75	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	18363164 19235102
30	SNCA	Synuclein Alpha	Protein Coding	11.5	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	15262735 11296364 11511401
31	PRNP	Prion Protein	Protein Coding	10.82	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	11914409
32	CHERP	Calcium Homeostasis Endoplasmic Reticulum Protein	Protein Coding	10.53	Novoseek inferred ⁵³	15198995 16791428 11511401 (more) 16831871
33	H2AC18	H2A Clustered Histone 18	Protein Coding	9.78	DISEASES inferred ¹⁴ ¹⁴
34	ERCC6	ERCC Excision Repair 6, Chromatin Remodeling Factor	Protein Coding	9.09	DISEASES inferred ¹⁴ ¹⁴
35	MAPT	Microtubule Associated Protein Tau	Protein Coding	8.76	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	15262735 18037885
36	MIR9-1	MicroRNA 9-1	RNA Gene	8.58	DISEASES inferred ¹⁴ ¹⁴
37	MIR3191	MicroRNA 3191	RNA Gene	8.49	DISEASES inferred ¹⁴ ¹⁴
38	RPS27A	Ribosomal Protein S27a	Protein Coding	8.38	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	18047739 17096206
39	LOC108660406	Ataxin 7 Repeat Instability Region	Functional Element	8.11	GeneCards inferred via : Publications (show sections)
40	GLO1	Glyoxalase I	Protein Coding	7.95	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	1675045
41	PLEKHG4	Pleckstrin Homology And RhoGEF Domain Containing G4	Protein Coding	7.88	DISEASES inferred ¹⁴
42	LOC108663996	TATA-Box Binding Protein Repeat Instability Region	Functional Element	7.76	GeneCards inferred via : Publications (show sections)
43	C9orf72	C9orf72-SMCR8 Complex Subunit	Protein Coding	7.73	DISEASES inferred ¹⁴
44	COPS5	COP9 Signalosome Subunit 5	Protein Coding	7.65	DISEASES inferred ¹⁴
45	APTX	Aprataxin	Protein Coding	7.64	DISEASES inferred ¹⁴
46	NOP56	NOP56 Ribonucleoprotein	Protein Coding	7.62	DISEASES inferred ¹⁴
47	MIR132	MicroRNA 132	RNA Gene	7.59	DISEASES inferred ¹⁴ ¹⁴
48	ATXN8	Ataxin 8	Protein Coding	7.48	GeneCards inferred via : Disorders (show sections)
49	LOC108663985	Calcium Voltage-Gated Channel Subunit Alpha1 A Repeat Instability Region	Functional Element	7.42	GeneCards inferred via : Publications (show sections)
50	CRYAA	Crystallin Alpha A	Protein Coding	7.32	DISEASES inferred ¹⁴ ¹⁴

Sources

Variations for Autosomal Dominant Cerebellar Ataxia

ClinVar genetic disease variations for Autosomal Dominant Cerebellar Ataxia:

⁵ (show top 50) (show all 528)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	KIF26B	NM_018012.4(KIF26B):c.5710G>A (p.Asp1904Asn)	SNV	Pathogenic	446270	rs749953234	GRCh37: 1:245851995-245851995 GRCh38: 1:245688693-245688693
2	LRRK2	NM_198578.4(LRRK2):c.4883G>C (p.Arg1628Pro)	SNV	Pathogenic	39198	rs33949390	GRCh37: 12:40713845-40713845 GRCh38: 12:40320043-40320043
3	POLG	NM_002693.3(POLG):c.2890C>T (p.Arg964Cys)	SNV	Pathogenic	206537	rs201477273	GRCh37: 15:89864088-89864088 GRCh38: 15:89320857-89320857
4	DYNC1H1	NM_001376.5(DYNC1H1):c.7193G>A (p.Arg2398His)	SNV	Uncertain Significance	574494	rs912429154	GRCh37: 14:102481620-102481620 GRCh38: 14:102015283-102015283
5	ITPR1	NM_002222.6(ITPR1):c.*1481delG	DEL	Uncertain Significance	345926	rs886058656	GRCh37: 3:4889390-4889390 GRCh38: 3:4847706-4847706
6	DYNC1H1	NM_001376.5(DYNC1H1):c.11366T>C (p.Ile3789Thr)	SNV	Uncertain Significance	880799	rs775444653	GRCh37: 14:102505497-102505497 GRCh38: 14:102039160-102039160
7	DYNC1H1	NM_001376.5(DYNC1H1):c.13157A>G (p.Asn4386Ser)	SNV	Uncertain Significance	539755	rs201575292	GRCh37: 14:102514304-102514304 GRCh38: 14:102047967-102047967
8	DYNC1H1	NM_001376.5(DYNC1H1):c.579C>T (p.Leu193=)	SNV	Uncertain Significance	881313	rs1184080545	GRCh37: 14:102446116-102446116 GRCh38: 14:101979779-101979779
9	DYNC1H1	NM_001376.5(DYNC1H1):c.2670G>T (p.Leu890=)	SNV	Uncertain Significance	512339	rs142961295	GRCh37: 14:102453921-102453921 GRCh38: 14:101987584-101987584
10	PDYN-AS1, PDYN	NM_024411.4(PDYN):c.-358G>A	SNV	Uncertain Significance	337845	rs745377265	GRCh37: 20:1974835-1974835 GRCh38: 20:1994189-1994189
11	ITPR1	NM_002222.6(ITPR1):c.*1531G>A	SNV	Uncertain Significance	345928	rs9817206	GRCh37: 3:4889440-4889440 GRCh38: 3:4847756-4847756
12	PDYN-AS1, PDYN	NM_024411.4(PDYN):c.-402C>G	SNV	Uncertain Significance	337848	rs775379753	GRCh37: 20:1974879-1974879 GRCh38: 20:1994233-1994233
13	DYNC1H1	NM_001376.5(DYNC1H1):c.5971G>A (p.Asp1991Asn)	SNV	Uncertain Significance	239001	rs151001016	GRCh37: 14:102474668-102474668 GRCh38: 14:102008331-102008331
14	DYNC1H1	NM_001376.5(DYNC1H1):c.6030G>A (p.Pro2010=)	SNV	Uncertain Significance	696864	rs202004938	GRCh37: 14:102476232-102476232 GRCh38: 14:102009895-102009895
15	DYNC1H1	NM_001376.4(DYNC1H1):c.-122C>T	SNV	Uncertain Significance	881715	rs566619022	GRCh37: 14:102430907-102430907 GRCh38: 14:101964570-101964570
16	DYNC1H1	NM_001376.5(DYNC1H1):c.12453A>T (p.Pro4151=)	SNV	Uncertain Significance	585807	rs200375220	GRCh37: 14:102509025-102509025 GRCh38: 14:102042688-102042688
17	DYNC1H1	NM_001376.5(DYNC1H1):c.13682C>T (p.Thr4561Met)	SNV	Uncertain Significance	882555	rs1376784009	GRCh37: 14:102516217-102516217 GRCh38: 14:102049880-102049880
18	DYNC1H1	NM_001376.5(DYNC1H1):c.9155A>G (p.Lys3052Arg)	SNV	Uncertain Significance	863131	rs774806132	GRCh37: 14:102494062-102494062 GRCh38: 14:102027725-102027725
19	DYNC1H1	NM_001376.5(DYNC1H1):c.10833G>C (p.Arg3611=)	SNV	Uncertain Significance	510280	rs35143882	GRCh37: 14:102502904-102502904 GRCh38: 14:102036567-102036567
20	DYNC1H1	NM_001376.5(DYNC1H1):c.10896C>A (p.Pro3632=)	SNV	Uncertain Significance	389365	rs200903643	GRCh37: 14:102502967-102502967 GRCh38: 14:102036630-102036630
21	DYNC1H1	NM_001376.5(DYNC1H1):c.390C>T (p.Pro130=)	SNV	Uncertain Significance	883657	rs2273439	GRCh37: 14:102445701-102445701 GRCh38: 14:101979364-101979364
22	DYNC1H1	NM_001376.5(DYNC1H1):c.2328G>A (p.Pro776=)	SNV	Uncertain Significance	734937	rs144921184	GRCh37: 14:102452890-102452890 GRCh38: 14:101986553-101986553
23	DYNC1H1	NM_001376.5(DYNC1H1):c.2352C>T (p.Ser784=)	SNV	Uncertain Significance	883710	rs149028205	GRCh37: 14:102452914-102452914 GRCh38: 14:101986577-101986577
24	DYNC1H1	NM_001376.5(DYNC1H1):c.2376C>T (p.Cys792=)	SNV	Uncertain Significance	516911	rs35092963	GRCh37: 14:102452938-102452938 GRCh38: 14:101986601-101986601
25	DYNC1H1	NM_001376.5(DYNC1H1):c.5427A>G (p.Glu1809=)	SNV	Uncertain Significance	883819	rs2048183675	GRCh37: 14:102471567-102471567 GRCh38: 14:102005230-102005230
26	DYNC1H1	NM_001376.5(DYNC1H1):c.11873G>T (p.Gly3958Val)	SNV	Uncertain Significance	833984	rs150118849	GRCh37: 14:102506942-102506942 GRCh38: 14:102040605-102040605
27	ITPR1	NM_002222.6(ITPR1):c.*1311G>A	SNV	Uncertain Significance	901146	rs772889585	GRCh37: 3:4889220-4889220 GRCh38: 3:4847536-4847536
28	ITPR1	NM_002222.6(ITPR1):c.*1366C>T	SNV	Uncertain Significance	901148	rs146958900	GRCh37: 3:4889275-4889275 GRCh38: 3:4847591-4847591
29	ITPR1	NM_001378452.1(ITPR1):c.6579C>A (p.Ala2193=)	SNV	Uncertain Significance	902787	rs35343277	GRCh37: 3:4825568-4825568 GRCh38: 3:4783884-4783884
30	ITPR1	NM_001378452.1(ITPR1):c.8248A>G (p.Met2750Val)	SNV	Uncertain Significance	345895	rs201934670	GRCh37: 3:4887880-4887880 GRCh38: 3:4846196-4846196
31	SPTBN2	NM_006946.4(SPTBN2):c.6797C>T (p.Ala2266Val)	SNV	Uncertain Significance	305526	rs145891813	GRCh37: 11:66454564-66454564 GRCh38: 11:66687093-66687093
32	ITPR1	NM_001378452.1(ITPR1):c.789C>T (p.Phe263=)	SNV	Uncertain Significance	447603	rs369681244	GRCh37: 3:4687346-4687346 GRCh38: 3:4645662-4645662
33	ITPR1	NM_001378452.1(ITPR1):c.5691T>C (p.Asp1897=)	SNV	Uncertain Significance	447593	rs371661663	GRCh37: 3:4808360-4808360 GRCh38: 3:4766676-4766676
34	DYNC1H1	NM_001376.5(DYNC1H1):c.13350G>A (p.Thr4450=)	SNV	Uncertain Significance	880921	rs961375016	GRCh37: 14:102514984-102514984 GRCh38: 14:102048647-102048647
35	DYNC1H1	NM_001376.5(DYNC1H1):c.3033A>G (p.Glu1011=)	SNV	Uncertain Significance	882967	rs755543897	GRCh37: 14:102460538-102460538 GRCh38: 14:101994201-101994201
36	DYNC1H1	NM_001376.5(DYNC1H1):c.7431C>T (p.Pro2477=)	SNV	Uncertain Significance	882014	rs375687099	GRCh37: 14:102482381-102482381 GRCh38: 14:102016044-102016044
37	DYNC1H1	NM_001376.5(DYNC1H1):c.7077C>T (p.Cys2359=)	SNV	Uncertain Significance	883113	rs200885538	GRCh37: 14:102481504-102481504 GRCh38: 14:102015167-102015167
38	DYNC1H1	NM_001376.5(DYNC1H1):c.8177+12C>T	SNV	Uncertain Significance	880669	rs367551573	GRCh37: 14:102483853-102483853 GRCh38: 14:102017516-102017516
39	DYNC1H1	NM_001376.5(DYNC1H1):c.11056-10A>G	SNV	Uncertain Significance	761757	rs751676054	GRCh37: 14:102505025-102505025 GRCh38: 14:102038688-102038688
40	DYNC1H1	NM_001376.5(DYNC1H1):c.11898G>A (p.Pro3966=)	SNV	Uncertain Significance	882441	rs777166781	GRCh37: 14:102506967-102506967 GRCh38: 14:102040630-102040630
41	SPTBN2	NM_006946.4(SPTBN2):c.2685G>A (p.Glu895=)	SNV	Uncertain Significance	305571	rs758091474	GRCh37: 11:66469186-66469186 GRCh38: 11:66701715-66701715
42	SPTBN2	NM_006946.4(SPTBN2):c.6528T>C (p.Asn2176=)	SNV	Uncertain Significance	305534	rs371535973	GRCh37: 11:66455092-66455092 GRCh38: 11:66687621-66687621
43	DYNC1H1	NM_001376.5(DYNC1H1):c.1086A>G (p.Thr362=)	SNV	Uncertain Significance	881314	rs17540728	GRCh37: 14:102449480-102449480 GRCh38: 14:101983143-101983143
44	DYNC1H1	NM_001376.5(DYNC1H1):c.1158A>G (p.Arg386=)	SNV	Uncertain Significance	881763	rs567247522	GRCh37: 14:102449552-102449552 GRCh38: 14:101983215-101983215
45	DYNC1H1	NM_001376.5(DYNC1H1):c.1296A>G (p.Val432=)	SNV	Uncertain Significance	701851	rs767564445	GRCh37: 14:102449781-102449781 GRCh38: 14:101983444-101983444
46	DYNC1H1	NM_001376.5(DYNC1H1):c.1560T>C (p.Ile520=)	SNV	Uncertain Significance	389700	rs761916499	GRCh37: 14:102452122-102452122 GRCh38: 14:101985785-101985785
47	DYNC1H1	NM_001376.5(DYNC1H1):c.4959C>T (p.His1653=)	SNV	Uncertain Significance	668173	rs773425996	GRCh37: 14:102470930-102470930 GRCh38: 14:102004593-102004593
48	DYNC1H1	NM_001376.5(DYNC1H1):c.5049+15G>A	SNV	Uncertain Significance	881867	rs975753572	GRCh37: 14:102471035-102471035 GRCh38: 14:102004698-102004698
49	DYNC1H1	NM_001376.5(DYNC1H1):c.366T>C (p.Thr122=)	SNV	Uncertain Significance	312618	rs527943422	GRCh37: 14:102445677-102445677 GRCh38: 14:101979340-101979340
50	SPTBN2	NM_006946.4(SPTBN2):c.2445C>T (p.Pro815=)	SNV	Uncertain Significance	305574	rs766115824	GRCh37: 11:66472302-66472302 GRCh38: 11:66704831-66704831

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 GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Akt Signaling ⁶⁴ Show member pathways p38 Signaling ⁶⁴ Tec Kinases Signaling ⁶⁴	12.37	PRKCG PPP2R2B FGF14 ATXN7 ATXN3 ATXN2
2	MAPK signaling pathway ⁷⁴	11.85	PRKCG LRRK2 FGF14 CACNA1A
3	Dopamine-DARPP32 Feedback onto cAMP Pathway ⁶⁴	11.61	PRKCG PPP2R2B KCNC3 CACNA1A
4	PKC-gamma calcium signaling pathway in ataxia ⁷⁴	10.58	PRKCG 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 inclusion body	GO:0042405	9.26	ATXN3 ATXN1
2	presynaptic cytosol	GO:0099523	8.92	PRKCG LRRK2

Sources

Sources for Autosomal Dominant Cerebellar Ataxia

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

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 NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

SCA MCID: ATS308 MIFTS: 64	Autosomal Dominant Cerebellar Ataxia (SCA) Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs Expand all tables

Autosomal Dominant Cerebellar Ataxia (SCA)

Aliases & Classifications for Autosomal Dominant Cerebellar Ataxia

MalaCards integrated aliases for Autosomal Dominant Cerebellar Ataxia:

Characteristics:

Inheritance:

Prevelance:

Age Of Onset:

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

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 (5 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 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:

Sources for Autosomal Dominant Cerebellar Ataxia