MCID: ATS308
MIFTS: 47

Autosomal Dominant Cerebellar Ataxia

Categories: Rare diseases, Neuronal diseases

Aliases & Classifications for Autosomal Dominant Cerebellar Ataxia

MalaCards integrated aliases for Autosomal Dominant Cerebellar Ataxia:

Name: Autosomal Dominant Cerebellar Ataxia 12 49 14
Spinocerebellar Ataxia 12 72 49 36
Spinocerebellar Ataxias 51 41
Ataxia, Spinocerebellar 69
Adca 49
Sca 49

Classifications:



Summaries for Autosomal Dominant Cerebellar Ataxia

NIH Rare Diseases : 49 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. Last updated: 7/10/2016

MalaCards based summary : Autosomal Dominant Cerebellar Ataxia, also known as spinocerebellar ataxia, is related to spinocerebellar ataxia 2 and spinocerebellar ataxia 6, and has symptoms including external ophthalmoplegia, nystagmus and optic atrophy. An important gene associated with Autosomal Dominant Cerebellar Ataxia is SCA32 (Spinocerebellar Ataxia 32), and among its related pathways/superpathways are Long-term depression and Ribosome biogenesis in eukaryotes. Affiliated tissues include testes and brain, and related phenotypes are behavior/neurological and nervous system

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

Related Diseases for Autosomal Dominant Cerebellar Ataxia

Diseases in the Autosomal Dominant Cerebellar Ataxia family:

Autosomal Recessive Cerebellar Ataxia

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

(show all 42)
# Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia 2 32.8 ATXN2 ATXN3 ATXN7 CACNA1A
2 spinocerebellar ataxia 6 32.7 ATXN3 ATXN7 CACNA1A
3 machado-joseph disease 32.5 ATN1 ATXN1 ATXN2 ATXN3 ATXN7 CACNA1A
4 spinocerebellar ataxia 1 32.4 ATN1 ATXN1 ATXN3 ATXN7 ATXN8OS CACNA1A
5 spinocerebellar ataxia 27 32.1 CACNA1A FGF14
6 spinocerebellar ataxia 31 32.1 ATXN3 ATXN7 CACNA1A
7 spinocerebellar ataxia 28 31.9 AFG3L2 FGF14 KCNC3 PRKCG TTBK2
8 spinocerebellar ataxia 8 31.9 ATXN10 ATXN8OS PPP2R2B
9 spinocerebellar ataxia 17 31.9 ATN1 ATXN3 ATXN7 CACNA1A TBP
10 spinocerebellar ataxia 12 31.8 ATN1 ATXN1 ATXN2 ATXN3 ATXN7 ATXN8OS
11 dentatorubral-pallidoluysian atrophy 31.6 ATN1 ATXN1 ATXN2 ATXN3 ATXN7 CACNA1A
12 aceruloplasminemia 31.4 ATXN10 ATXN2 ATXN3 ATXN7 CACNA1A KCNC3
13 cerebellar ataxia, deafness, and narcolepsy, autosomal dominant 12.1
14 spinocerebellar ataxia 7 11.9
15 spinocerebellar ataxia 13 11.8
16 spinocerebellar ataxia 5 11.1
17 spinocerebellar ataxia 10 11.1
18 spinocerebellar ataxia 11 10.9
19 spinocerebellar ataxia 14 10.9
20 spinocerebellar ataxia 15 10.9
21 harding ataxia 10.9
22 ataxia and polyneuropathy, adult-onset 10.8
23 ataxia-oculomotor apraxia 3 10.8
24 spinocerebellar degeneration 10.6 ATXN1 ATXN2 ATXN3
25 spinal and bulbar muscular atrophy, x-linked 1 10.5 ATXN1 ATXN3 ATXN7
26 spinocerebellar ataxia 36 10.5 ATXN10 ATXN2 PPP2R2B
27 encephalopathy, familial, with neuroserpin inclusion bodies 10.4 KCNC3 TTBK2
28 neuronal intranuclear inclusion disease 10.4 ATXN1 ATXN3
29 spinocerebellar ataxia 18 10.4 ATXN3 ATXN7 CACNA1A SCA18
30 cerebellar degeneration 10.4 ATXN2 CACNA1A
31 cerebellar disease 10.3 ATXN10 ATXN3 ATXN7 CACNA1A PPP2R2B PRKCG
32 huntington disease 10.3 ATN1 ATXN1 ATXN3 TBP
33 friedreich ataxia 1 10.3 ATXN1 ATXN2 ATXN3 ATXN8OS CACNA1A
34 branchiootic syndrome 1 10.2
35 narcolepsy 10.2
36 olivopontocerebellar atrophy 10.2 ATXN2 ATXN7
37 retinitis 10.1
38 retinal degeneration 10.1
39 neuropathy 10.1
40 hereditary ataxia 10.1 AFG3L2 ATN1 ATXN1 ATXN2 ATXN3 ATXN7
41 paraplegia 9.9
42 spasticity 9.9

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



Diseases related to Autosomal Dominant Cerebellar Ataxia

Symptoms & Phenotypes for Autosomal Dominant Cerebellar Ataxia

Human phenotypes related to Autosomal Dominant Cerebellar Ataxia:

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

UMLS symptoms related to Autosomal Dominant Cerebellar Ataxia:


cerebellar ataxia, ataxia

MGI Mouse Phenotypes related to Autosomal Dominant Cerebellar Ataxia:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.7 AFG3L2 ATN1 ATXN1 ATXN2 ATXN3 ATXN7
2 nervous system MP:0003631 9.4 AFG3L2 ATN1 ATXN1 ATXN2 ATXN3 ATXN7

Drugs & Therapeutics for Autosomal Dominant Cerebellar Ataxia

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Biomarkers in Autosomal Dominant Cerebellar Ataxia Completed NCT01470729
2 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Autosomal Dominant Cerebellar Ataxia

Cochrane evidence based reviews: spinocerebellar ataxias

Genetic Tests for Autosomal Dominant Cerebellar Ataxia

Anatomical Context for Autosomal Dominant Cerebellar Ataxia

MalaCards organs/tissues related to Autosomal Dominant Cerebellar Ataxia:

38
Testes, Brain

Publications for Autosomal Dominant Cerebellar Ataxia

Articles related to Autosomal Dominant Cerebellar Ataxia:

(show top 50) (show all 1208)
# Title Authors Year
1
Case Report: A patient with spinocerebellar ataxia type 31 and sporadic Creutzfeldt-Jakob disease. ( 29411683 )
2018
2
The Neuropathology of Spinocerebellar Ataxia Type 3/Machado-Joseph Disease. ( 29427106 )
2018
3
Spinocerebellar Ataxia Type 31 with Blepharospasm. ( 29434122 )
2018
4
Towards the Identification of Molecular Biomarkers of Spinocerebellar Ataxia Type 3 (SCA3)/Machado-Joseph Disease (MJD). ( 29427111 )
2018
5
Spinocerebellar Ataxia 27: A Review and Characterization of an Evolving Phenotype. ( 29416937 )
2018
6
Elevated Global DNA Methylation Is Not Exclusive to Amyotrophic Lateral Sclerosis and Is Also Observed in Spinocerebellar Ataxia Types 1 and 2. ( 29428949 )
2018
7
Gene dosage effect in spinocerebellar ataxia type 6 homozygotes: A clinical and neuropathological study. ( 28131213 )
2017
8
Inheritance patterns of ATCCT repeat interruptions in spinocerebellar ataxia type 10 (SCA10) expansions. ( 28423040 )
2017
9
Heterotopic Purkinje Cells: a Comparative Postmortem Study of Essential Tremor and Spinocerebellar Ataxias 1, 2, 3, and 6. ( 28791574 )
2017
10
Spinocerebellar Ataxia 27: Clinical Phenotype of Twin Sisters with FGF14 Deletion. ( 28192817 )
2017
11
Peripheral Oxidative Stress Biomarkers in Spinocerebellar Ataxia Type 3/Machado-Joseph Disease. ( 28979235 )
2017
12
Synergistic Toxicity of Polyglutamine-Expanded TATA-Binding Protein in Glia and Neuronal Cells: Therapeutic Implications for Spinocerebellar Ataxia 17. ( 28821675 )
2017
13
A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia. ( 28686858 )
2017
14
Bicistronic CACNA1A Gene Expression in Neurons Derived from Spinocerebellar Ataxia Type 6 Patient Induced Pluripotent Stem Cells. ( 28946818 )
2017
15
Knockdown and replacement therapy mediated by artificial mirtrons in spinocerebellar ataxia 7. ( 28575281 )
2017
16
Impaired Cerebellum to Primary Motor Cortex Associative Plasticity in Parkinson's Disease and Spinocerebellar Ataxia Type 3. ( 28900413 )
2017
17
Co-existence of spastic paraplegia-30 with novel KIF1A mutation and spinocerebellar ataxia 31 with intronic expansion of BEAN and TK2 in a family. ( 28017198 )
2017
18
First report of a Japanese family with spinocerebellar ataxia type 10: The second report from Asia after a report from China. ( 28542277 )
2017
19
Autosomal recessive spinocerebellar ataxia 20: Report of a new patient and review of literature. ( 27913285 )
2017
20
CAG repeat length does not associate with the rate of cerebellar degeneration in spinocerebellar ataxia type 3. ( 27942452 )
2017
21
Buccal Cell Micronucleus Frequency Is Significantly Elevated in Patients with Spinocerebellar Ataxia Type 2. ( 28923333 )
2017
22
Association of glutathione S-transferase omega polymorphism and spinocerebellar ataxia type 2. ( 28017238 )
2017
23
Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44. ( 28886343 )
2017
24
Antisense Oligonucleotide-Mediated Removal of the Polyglutamine Repeat in Spinocerebellar Ataxia Type 3 Mice. ( 28918024 )
2017
25
Increased biological activity of protein Kinase C gamma is not required in Spinocerebellar ataxia 14. ( 28738819 )
2017
26
Antisense Oligonucleotides Reduce RNA Foci in Spinocerebellar Ataxia 36 Patient iPSCs. ( 28918022 )
2017
27
Distinguishing spinocerebellar ataxia with pure cerebellar manifestation from multiple system atrophy (MSA-C) through saccade profiles. ( 27866117 )
2017
28
Interaction of the polyglutamine protein ataxin-3 with Rad23 regulates toxicity in Drosophila models of Spinocerebellar Ataxia Type 3. ( 28158474 )
2017
29
The Multiple Faces of Spinocerebellar Ataxia type 2. ( 28904990 )
2017
30
Clinical behaviour of spinocerebellar ataxia type 12 and intermediate length abnormal CAG repeats in PPP2R2B. ( 27864267 )
2017
31
Neural correlates of ataxia severity in spinocerebellar ataxia type 3/Machado-Joseph disease. ( 28593048 )
2017
32
Treatment with Caffeic Acid and Resveratrol Alleviates Oxidative Stress Induced Neurotoxicity in Cell and Drosophila Models of Spinocerebellar Ataxia Type3. ( 28912527 )
2017
33
Prevalence of spinocerebellar ataxia 36 in a US population. ( 28761930 )
2017
34
A human I^-III-spectrin spinocerebellar ataxia type 5 mutation causes high-affinity F-actin binding. ( 26883385 )
2016
35
Choreoathetosis, Dystonia, and Myoclonus in 3 Siblings With Autosomal Recessive Spinocerebellar Ataxia Type 16. ( 27182963 )
2016
36
The RNA binding KH domain of Spoonbill depletes pathogenic non-coding spinocerebellar ataxia 8 transcripts and suppresses neurodegeneration in Drosophila. ( 27302466 )
2016
37
Design of a bioactive small molecule that targets r(AUUCU) repeats in spinocerebellar ataxia 10. ( 27248057 )
2016
38
Ataxin-3 phosphorylation decreases neuronal defects in spinocerebellar ataxia type 3 models. ( 26880203 )
2016
39
ATXN2-AS, a gene antisense to ATXN2, is associated with spinocerebellar ataxia type 2 and amyotrophic lateral sclerosis. ( 27531668 )
2016
40
Spinocerebellar ataxia 15: A phenotypic review and expansion. ( 27908616 )
2016
41
Ataxin-1 regulates the cerebellar bioenergetics proteome through the GSK3I^-mTOR pathway which is altered in Spinocerebellar ataxia type 1 (SCA1). ( 27466200 )
2016
42
[Spinocerebellar ataxia: eight cases from one pedigree]. ( 27577232 )
2016
43
Spinocerebellar ataxia type 3/Machado-Joseph disease starting before adolescence. ( 26780339 )
2016
44
Brain Metabolic Changes of Cervical Dystonia with Spinocerebellar Ataxia Type 1 after Botulinum Toxin Therapy. ( 27432104 )
2016
45
Dystonia in ATP2B3-associated X-linked spinocerebellar ataxia. ( 27653636 )
2016
46
Autosomal Dominant Cerebellar Ataxia, Deafness, and Narcolepsy (ADCA-DN) Associated With Progressive Cognitive and Behavioral Deterioration. ( 27869457 )
2016
47
MR Imaging in Spinocerebellar Ataxias: A Systematic Review. ( 27173364 )
2016
48
RNA-binding disturbances as a continuum from spinocerebellar ataxia type 2 to Parkinson disease. ( 27663142 )
2016
49
Identification of a methylation profile for DNMT1-associated autosomal dominant cerebellar ataxia, deafness, and narcolepsy. ( 27602171 )
2016
50
A Novel Missense Mutation in the Spectrin Beta Nonerythrocytic 2 Gene Likely Associated with Spinocerebellar Ataxia Type 5. ( 27748352 )
2016

Variations for Autosomal Dominant Cerebellar Ataxia

Expression for Autosomal Dominant Cerebellar Ataxia

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

Pathways for Autosomal Dominant Cerebellar Ataxia

Pathways related to Autosomal Dominant Cerebellar Ataxia according to KEGG:

36
# Name Kegg Source Accession
1 Long-term depression hsa04730
2 Ribosome biogenesis in eukaryotes hsa03008

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.7 ATXN1 ATXN10 ATXN2 ATXN3 ATXN7 FGF14
2 11.81 CACNA1A KCNC3 PPP2R2B PRKCG
3
Show member pathways
11.63 ATXN1 ATXN10 ATXN2 ATXN3 ATXN7

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 dendrite GO:0030425 9.46 ATXN10 CACNA1A KCNC3 PRKCG
2 nuclear inclusion body GO:0042405 8.96 ATXN1 ATXN3
3 nuclear matrix GO:0016363 8.92 ATN1 ATXN1 ATXN3 ATXN7

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

# Name GO ID Score Top Affiliating Genes
1 response to pain GO:0048265 8.96 CACNA1A PRKCG
2 microtubule cytoskeleton organization GO:0000226 8.8 ATXN3 ATXN7 TTBK2

Sources for Autosomal Dominant Cerebellar Ataxia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
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29 HGMD
30 HMDB
31 HPO
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33 ICD10 via Orphanet
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35 IUPHAR
36 KEGG
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41 MeSH
42 MESH via Orphanet
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58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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