SCA
MCID: ATS308
MIFTS: 57

Autosomal Dominant Cerebellar Ataxia (SCA)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Autosomal Dominant Cerebellar Ataxia

MalaCards integrated aliases for Autosomal Dominant Cerebellar Ataxia:

Name: Autosomal Dominant Cerebellar Ataxia 12 53 15
Spinocerebellar Ataxia 12 76 53 37
Spinocerebellar Ataxias 55 44
Ataxia, Spinocerebellar 40 73
Adca 53
Sca 53

Classifications:



Summaries for Autosomal Dominant Cerebellar Ataxia

NIH Rare Diseases : 53 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 36 and spinocerebellar ataxia 7, and has symptoms including ataxia and cerebellar ataxia. An important gene associated with Autosomal Dominant Cerebellar Ataxia is ATXN8OS (ATXN8 Opposite Strand LncRNA), and among its related pathways/superpathways are Long-term depression and Ribosome biogenesis in eukaryotes. Affiliated tissues include brain, testes and eye, and related phenotypes are nystagmus and ataxia

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

Wikipedia : 76 Spinocerebellar ataxia (SCA), also known as spinocerebellar atrophy or spinocerebellar degeneration, is... more...

Related Diseases for Autosomal Dominant Cerebellar Ataxia

Diseases in the Autosomal Dominant Cerebellar Ataxia family:

Autosomal Recessive Cerebellar Ataxia Syne1-Related Autosomal Recessive Cerebellar Ataxia
Congenital Cerebellar Ataxia Due to Rnu12 Mutation

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

(show top 50) (show all 254)
# Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia 36 34.4 ATXN10 ATXN2 PPP2R2B
2 spinocerebellar ataxia 7 33.5 ATXN2 ATXN7 SCAANT1
3 olivopontocerebellar atrophy 33.1 ATXN2 ATXN7
4 spinocerebellar ataxia 2 32.7 ATXN2 ATXN3 ATXN7 CACNA1A
5 friedreich ataxia 1 32.6 ATXN1 ATXN2 ATXN3 ATXN8OS CACNA1A
6 cerebellar degeneration 32.6 ATXN2 CACNA1A
7 machado-joseph disease 32.6 ATN1 ATXN1 ATXN2 ATXN3 ATXN7 CACNA1A
8 spinocerebellar ataxia 6 32.6 ATXN3 ATXN7 CACNA1A
9 spinocerebellar ataxia 1 32.5 ATN1 ATXN1 ATXN3 ATXN7 ATXN8OS CACNA1A
10 spinocerebellar ataxia 12 32.4 ATN1 ATXN1 ATXN2 ATXN3 ATXN7 ATXN8OS
11 spinocerebellar ataxia 31 32.2 ATXN3 ATXN7 CACNA1A
12 spinocerebellar ataxia 27 32.2 CACNA1A FGF14
13 spinocerebellar ataxia 17 32.1 ATN1 ATXN3 ATXN7 CACNA1A TBP
14 spinocerebellar ataxia 28 32.0 AFG3L2 FGF14 KCNC3 PRKCG
15 spinocerebellar ataxia 18 31.9 ATXN3 ATXN7 CACNA1A SCA18
16 spinocerebellar ataxia 8 31.9 ATXN10 ATXN8OS PPP2R2B
17 dentatorubral-pallidoluysian atrophy 31.8 ATN1 ATXN2 ATXN3 ATXN7 CACNA1A PPP2R2B
18 aceruloplasminemia 31.6 AFG3L2 ATXN1 ATXN10 ATXN2 ATXN3 ATXN7
19 huntington disease 30.5 ATN1 ATXN1 ATXN3 TBP
20 parkinson disease, late-onset 30.3 ATXN2 ATXN3 ATXN8OS TBP
21 cerebellar disease 30.2 ATXN10 ATXN3 ATXN7 CACNA1A PPP2R2B PRKCG
22 hereditary ataxia 29.8 AFG3L2 ATN1 ATXN1 ATXN10 ATXN2 ATXN3
23 spinocerebellar ataxia, autosomal recessive 7 12.6
24 spinocerebellar ataxia 37 12.6
25 spinocerebellar ataxia 38 12.6
26 spinocerebellar ataxia 35 12.6
27 spinocerebellar ataxia 19 12.6
28 spinocerebellar ataxia 4 12.6
29 spinocerebellar ataxia, autosomal recessive 16 12.6
30 spinocerebellar ataxia, autosomal recessive 1 12.6
31 spinocerebellar ataxia, autosomal recessive 20 12.6
32 spinocerebellar ataxia type 1 with axonal neuropathy 12.6
33 spinocerebellar ataxia 42 12.6
34 spinocerebellar ataxia, autosomal recessive 23 12.5
35 anemia, sideroblastic, and spinocerebellar ataxia 12.5
36 spinocerebellar ataxia, autosomal recessive 21 12.5
37 spinocerebellar ataxia, autosomal recessive 2 12.5
38 spinocerebellar ataxia, autosomal recessive 8 12.5
39 spinocerebellar ataxia, autosomal recessive 10 12.5
40 spinocerebellar ataxia, autosomal recessive 12 12.5
41 spinocerebellar ataxia, autosomal recessive 11 12.5
42 spinocerebellar ataxia, autosomal recessive 13 12.5
43 spinocerebellar ataxia, autosomal recessive 14 12.5
44 spinocerebellar ataxia, autosomal recessive 15 12.5
45 spinocerebellar ataxia 40 12.5
46 spinocerebellar ataxia, autosomal recessive 17 12.5
47 spinocerebellar ataxia, x-linked 1 12.4
48 spinocerebellar ataxia, autosomal recessive 18 12.4
49 spinocerebellar ataxia 44 12.4
50 spinocerebellar ataxia 46 12.4

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



Diseases related to Autosomal Dominant Cerebellar Ataxia

Symptoms & Phenotypes for Autosomal Dominant Cerebellar Ataxia

Human phenotypes related to Autosomal Dominant Cerebellar Ataxia:

32 (show all 17)
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 hallmark (90%) HP:0000639
2 ataxia 32 hallmark (90%) HP:0001251
3 spasticity 32 frequent (33%) HP:0001257
4 dysarthria 32 frequent (33%) HP:0001260
5 gait disturbance 32 hallmark (90%) HP:0001288
6 behavioral abnormality 32 frequent (33%) HP:0000708
7 type ii diabetes mellitus 32 occasional (7.5%) HP:0005978
8 optic atrophy 32 hallmark (90%) HP:0000648
9 abnormality of retinal pigmentation 32 hallmark (90%) HP:0007703
10 emphysema 32 frequent (33%) HP:0002097
11 reduced tendon reflexes 32 frequent (33%) HP:0001315
12 vocal cord paralysis 32 frequent (33%) HP:0001605
13 impaired pain sensation 32 frequent (33%) HP:0007328
14 cerebellar atrophy 32 hallmark (90%) HP:0001272
15 external ophthalmoplegia 32 occasional (7.5%) HP:0000544
16 distal amyotrophy 32 occasional (7.5%) HP:0003693
17 tonic pupil 32 hallmark (90%) HP:0012074

UMLS symptoms related to Autosomal Dominant Cerebellar Ataxia:


ataxia, cerebellar ataxia

MGI Mouse Phenotypes related to Autosomal Dominant Cerebellar Ataxia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.7 AFG3L2 ATN1 ATXN1 ATXN2 ATXN3 ATXN7
2 nervous system MP:0003631 9.36 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:

41
Brain, Testes, Eye, Cerebellum, Cortex, Kidney, Temporal Lobe

Publications for Autosomal Dominant Cerebellar Ataxia

Articles related to Autosomal Dominant Cerebellar Ataxia:

(show top 50) (show all 1640)
# Title Authors Year
1
Why do so many genetic insults lead to Purkinje Cell degeneration and spinocerebellar ataxia? ( 29421540 )
2019
2
Age at onset prediction in spinocerebellar ataxia type 3 changes according to population of origin. ( 30125433 )
2019
3
Reduced Purkinje cell size is compatible with near normal morphology and function of the cerebellar cortex in a mouse model of spinocerebellar ataxia. ( 30312605 )
2019
4
Pharmacological enhancement of retinoid-related orphan receptor α function mitigates spinocerebellar ataxia type 3 pathology. ( 30343032 )
2019
5
SNX14 mutations affect endoplasmic reticulum-associated neutral lipid metabolism in autosomal recessive spinocerebellar ataxia 20. ( 29635513 )
2018
6
Spinocerebellar ataxia 17: full phenotype in a 41 CAG/CAA repeats carrier. ( 29564144 )
2018
7
Case Report: A patient with spinocerebellar ataxia type 31 and sporadic Creutzfeldt-Jakob disease. ( 29411683 )
2018
8
Elevated Global DNA Methylation Is Not Exclusive to Amyotrophic Lateral Sclerosis and Is Also Observed in Spinocerebellar Ataxia Types 1 and 2. ( 29428949 )
2018
9
Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy. ( 29718187 )
2018
10
Spinocerebellar Ataxia-21 in a Turkish Child. ( 29720801 )
2018
11
The Neuropathology of Spinocerebellar Ataxia Type 3/Machado-Joseph Disease. ( 29427106 )
2018
12
Spinocerebellar Ataxia Type 31 with Blepharospasm. ( 29434122 )
2018
13
Simulation Based Investigation of Deleterious nsSNPs in ATXN2 Gene and Its Structural Consequence Toward Spinocerebellar Ataxia. ( 28612427 )
2018
14
<i>CAPN1</i> mutations broadening the hereditary spastic paraplegia/spinocerebellar ataxia phenotype. ( 29678961 )
2018
15
Novel Features and Abnormal Pattern of Cerebral Glucose Metabolism in Spinocerebellar Ataxia 19. ( 29527639 )
2018
16
Towards the Identification of Molecular Biomarkers of Spinocerebellar Ataxia Type 3 (SCA3)/Machado-Joseph Disease (MJD). ( 29427111 )
2018
17
Spinocerebellar Ataxia 27: A Review and Characterization of an Evolving Phenotype. ( 29416937 )
2018
18
Dystonia in Patients with Spinocerebellar Ataxia 3 - Machado-Joseph disease: An Underestimated Diagnosis? ( 30008965 )
2018
19
Genotype-phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14. ( 29603387 )
2018
20
Machado-Joseph disease/spinocerebellar ataxia type 3: lessons from disease pathogenesis and clues into therapy. ( 29959858 )
2018
21
Genetic risk factors for modulation of age at onset in Machado-Joseph disease/spinocerebellar ataxia type 3: a systematic review and meta-analysis. ( 30337442 )
2018
22
Mitochondrial DNA haplogroups and age at onset of Machado-Joseph disease/Spinocerebellar ataxia type 3: a study in patients from multiple populations. ( 30414314 )
2018
23
Spinocerebellar ataxia type 2 presenting with rapidly progressing muscle weakness and muscular atrophy. ( 29461011 )
2018
24
Diagnostic Challenges Posed by Preceding Peripheral Neuropathy in Very Late-onset Spinocerebellar Ataxia Type 3. ( 30146593 )
2018
25
Clinical application of next generation sequencing in hereditary spinocerebellar ataxia: increasing the diagnostic yield and broadening the ataxia-spasticity spectrum. A retrospective analysis. ( 29209898 )
2018
26
Identification of Abnormal 51 CTA/CTG Expansion as Probably the Shortest Pathogenic Allele for Spinocerebellar Ataxia-8 in China. ( 29943235 )
2018
27
Spinocerebellar ataxia 27 with a novel nonsense variant (Lys177X) in FGF14. ( 30017992 )
2018
28
Non-ataxic manifestations of Spinocerebellar ataxia-2, their determinants and predictors. ( 30196130 )
2018
29
Aberrant IP3 receptor activities revealed by comprehensive analysis of pathological mutations causing spinocerebellar ataxia 29. ( 30429331 )
2018
30
Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17. ( 30532692 )
2018
31
Levodopa-responsive truncal tremor in a patient with spinocerebellar ataxia type 3. ( 30097150 )
2018
32
Treatment of intractable resting tremor of spinocerebellar ataxia 42 with zonisamide. ( 30448718 )
2018
33
Spinocerebellar Ataxia Type 1: Molecular Mechanisms of Neurodegeneration and Preclinical Studies. ( 29427101 )
2018
34
ATXN1-CIC Complex Is the Primary Driver of Cerebellar Pathology in Spinocerebellar Ataxia Type 1 through a Gain-of-Function Mechanism. ( 29526553 )
2018
35
Mutant ataxin1 disrupts cerebellar development in spinocerebellar ataxia type 1. ( 29533923 )
2018
36
Generation of 3 spinocerebellar ataxia type 1 (SCA1) patient-derived induced pluripotent stem cell lines LUMCi002-A, B, and C and 2 unaffected sibling control induced pluripotent stem cell lines LUMCi003-A and B. ( 29656178 )
2018
37
Dendritic potassium channel dysfunction may contribute to dendrite degeneration in spinocerebellar ataxia type 1. ( 29847609 )
2018
38
PAK1 regulates ATXN1 levels providing an opportunity to modify its toxicity in spinocerebellar ataxia type 1. ( 29860311 )
2018
39
Inhibition of NF-κB signaling in IKKβF/F;LysM Cre mice causes motor deficits but does not alter pathogenesis of Spinocerebellar ataxia type 1. ( 29975753 )
2018
40
Astroglia contribute to the pathogenesis of spinocerebellar ataxia Type 1 (SCA1) in a biphasic, stage-of-disease specific manner. ( 30043530 )
2018
41
Purkinje cell COX deficiency and mtDNA depletion in an animal model of spinocerebellar ataxia type 1. ( 30113722 )
2018
42
Molecular pathway analysis towards understanding tissue vulnerability in spinocerebellar ataxia type 1. ( 30507379 )
2018
43
Ophthalmic features of spinocerebellar ataxia type 7. ( 28799562 )
2018
44
Lethal form of spinocerebellar ataxia type 7 with early onset in childhood. ( 29248324 )
2018
45
Molecular Mechanisms and Therapeutic Strategies in Spinocerebellar Ataxia Type 7. ( 29427104 )
2018
46
Oxidative Stress in Spinocerebellar Ataxia Type 7 Is Associated with Disease Severity. ( 29876803 )
2018
47
Motor and cognitive impairments in spinocerebellar ataxia type 7 and its correlations with cortical volumes. ( 30255962 )
2018
48
Antisense oligonucleotides targeting mutant Ataxin-7 restore visual function in a mouse model of spinocerebellar ataxia type 7. ( 30381411 )
2018
49
Structural cerebellar correlates of cognitive functions in spinocerebellar ataxia type 2. ( 29356974 )
2018
50
The progression rate of spinocerebellar ataxia type 2 changes with stage of disease. ( 29370806 )
2018

Variations for Autosomal Dominant Cerebellar Ataxia

Expression for Autosomal Dominant Cerebellar Ataxia

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

Pathways for Autosomal Dominant Cerebellar Ataxia

Pathways related to Autosomal Dominant Cerebellar Ataxia according to KEGG:

37
# Name Kegg Source Accession
1 Long-term depression hsa04730
2 Ribosome biogenesis in eukaryotes hsa03008

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

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

GO Terms for Autosomal Dominant Cerebellar Ataxia

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

# Name GO ID Score Top Affiliating Genes
1 nuclear inclusion body GO:0042405 8.96 ATXN1 ATXN3
2 nuclear matrix GO:0016363 8.92 ATN1 ATXN1 ATXN3 ATXN7

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

# Name GO ID Score Top Affiliating Genes
1 response to pain GO:0048265 8.62 CACNA1A PRKCG

Sources for Autosomal Dominant Cerebellar Ataxia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....