MCID: ATS308
MIFTS: 46

Autosomal Dominant Cerebellar Ataxia

Categories: Rare diseases, Neuronal diseases, Genetic diseases, Eye diseases, Metabolic diseases, Blood diseases

Aliases & Classifications for Autosomal Dominant Cerebellar Ataxia

MalaCards integrated aliases for Autosomal Dominant Cerebellar Ataxia:

Name: Autosomal Dominant Cerebellar Ataxia 12 50 14
Spinocerebellar Ataxia 12 72 50
Spinocerebellar Ataxias 52 42
Ataxia, Spinocerebellar 69
Adca 50
Sca 50

Classifications:



Summaries for Autosomal Dominant Cerebellar Ataxia

NIH Rare Diseases : 50 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 cerebellar ataxia, deafness, and narcolepsy, autosomal dominant and spinocerebellar ataxia 13, and has symptoms including optic atrophy, nystagmus and dysarthria. An important gene associated with Autosomal Dominant Cerebellar Ataxia is CACNA1A (Calcium Voltage-Gated Channel Subunit Alpha1 A), and among its related pathways/superpathways are Akt Signaling and Chks in Checkpoint Regulation. The drugs Riluzole and Anticonvulsants have been mentioned in the context of this disorder. Affiliated tissues include testes and brain, and related phenotypes are behavior/neurological and growth/size/body region

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

Wikipedia : 72 Autosomal dominant cerebellar ataxia (ADCA) is a form of spinocerebellar ataxia inherited in an... more...

Related Diseases for Autosomal Dominant Cerebellar Ataxia

Diseases in the Cerebellar Ataxia family:

Autosomal Recessive Cerebellar Ataxia Autosomal Dominant Cerebellar Ataxia
Syne1-Related Autosomal Recessive Cerebellar Ataxia

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

(show top 50) (show all 56)
id Related Disease Score Top Affiliating Genes
1 cerebellar ataxia, deafness, and narcolepsy, autosomal dominant 11.9
2 spinocerebellar ataxia 13 11.7
3 spinocerebellar ataxia 7 11.6
4 spinocerebellar ataxia 1 11.3
5 machado-joseph disease 11.3
6 spinocerebellar ataxia 12 11.2
7 spinocerebellar ataxia 5 11.0
8 spinocerebellar ataxia 2 11.0
9 spinocerebellar ataxia 10 11.0
10 spinocerebellar ataxia 17 10.8
11 dentatorubro-pallidoluysian atrophy 10.8
12 spinocerebellar ataxia 8 10.8
13 harding ataxia 10.8
14 spinocerebellar ataxia 27 10.8
15 spinocerebellar ataxia 11 10.8
16 spinocerebellar ataxia 31 10.8
17 spinocerebellar ataxia 28 10.8
18 spinocerebellar ataxia 15 10.8
19 spinocerebellar ataxia 6 10.8
20 spinocerebellar ataxia 14 10.8
21 ataxia 10.8
22 cerebellar ataxia 10.8
23 syringohydromyelia 10.5 ATXN1 ATXN2 ATXN3
24 cystic echinococcosis 10.4 ATXN2 ATXN7
25 epileptic encephalopathy, early infantile, 42 10.4 ATXN3 ATXN7 CACNA1A
26 hypospadias 1, x-linked 10.3 ATXN1 ATXN3 ATXN7
27 oguchi disease-2 10.3 CACNA1A FGF14
28 celiac disease 13 10.3 ATXN2 ATXN3 ATXN7 CACNA1A
29 narcolepsy 10.2
30 hypogonadotropic hypogonadism 3 with or without anosmia 10.2 ATXN10 ATXN2 PPP2R2B
31 basilar impression, primary 10.1 ATXN1 ATXN3
32 retinitis 10.1
33 retinal degeneration 10.1
34 neuropathy 10.1
35 hyperalphalipoproteinemia 10.1 ATXN3 ATXN7 CACNA1A PLEKHG4
36 cerebral cavernous malformations 3 10.0 KCNC3 TTBK2
37 paraplegia 9.8
38 spasticity 9.8
39 thyroid dyshormonogenesis 6 9.8 PRKCG SPTBN2 TTBK2
40 auditory neuropathy, autosomal dominant, 1 9.8 ATXN10 ATXN8OS PPP2R2B
41 parkinson disease, late-onset 9.6 ATXN2 ATXN3 ATXN8OS TBP
42 spinocerebellar ataxia 29, congenital nonprogressive 9.6 ITPR1 KCNC3 SPTBN2
43 spastic ataxia 5, autosomal recessive 9.6 AFG3L2 FGF14 KCNC3 PRKCG TTBK2
44 melkersson-rosenthal syndrome 9.6 ITPR1 KCNC3 SPTBN2
45 mednik syndrome 9.6 ATXN3 ATXN7 CACNA1A PLEKHG4 SPTBN2
46 rigidity and multifocal seizure syndrome, lethal neonatal 9.4 ATN1 ATXN3 ATXN7 CACNA1A TBP
47 proteus syndrome, somatic 9.3 ATN1 ATXN1 ATXN2 ATXN3 ATXN7 CACNA1A
48 tremor, hereditary essential, 3 9.0 ATN1 ATXN1 ATXN3 ATXN7 ATXN8OS CACNA1A
49 lopes-maciel-rodan syndrome 8.9 ATN1 ATXN1 ATXN3 ITPR1 TBP
50 okt4 epitope deficiency 8.7 ATN1 ATXN1 ATXN2 ATXN3 ATXN7 CACNA1A

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

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.97 ATXN2 ATXN3 ATXN7 CACNA1A FGF14 ITPR1
2 growth/size/body region MP:0005378 9.73 AFG3L2 ATN1 ATXN1 ATXN2 ATXN7 CACNA1A
3 nervous system MP:0003631 9.47 AFG3L2 ATN1 ATXN1 ATXN2 ATXN3 ATXN7

Drugs & Therapeutics for Autosomal Dominant Cerebellar Ataxia

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

(show all 13)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Riluzole Approved, Investigational Phase 2, Phase 3 1744-22-5 5070
2 Anticonvulsants Phase 2, Phase 3
3 Excitatory Amino Acid Antagonists Phase 2, Phase 3
4 Excitatory Amino Acids Phase 2, Phase 3
5 Neuroprotective Agents Phase 2, Phase 3
6 Neurotransmitter Agents Phase 2, Phase 3
7 Protective Agents Phase 2, Phase 3
8 Antidepressive Agents Phase 2, Phase 3
9 Antimanic Agents Phase 2, Phase 3
10 Central Nervous System Depressants Phase 2, Phase 3
11 Lithium carbonate Phase 2, Phase 3 554-13-2
12 Psychotropic Drugs Phase 2, Phase 3
13 Tranquilizing Agents Phase 2, Phase 3

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Efficacy of Riluzole in Hereditary Cerebellar Ataxia Completed NCT01104649 Phase 2, Phase 3 riluzole;Placebo comparator
2 Safety and Efficacy of Lithium Carbonate in Patients With Spinocerebellar Ataxia Type 3 Completed NCT01096082 Phase 2, Phase 3 Lithium Carbonate;Placebo
3 A New Method to Treat Hereditary Cerebellar Ataxia - Umbilical Cord Mesenchymal Stem Cells Transplantation Unknown status NCT01489267 Phase 2
4 Natural History, Genetic Bases and Phenotype-genotype Correlations in Autosomal Dominant Spinocerebellar Degenerations Unknown status NCT00136630 Phase 1
5 Biomarkers in Autosomal Dominant Cerebellar Ataxia Completed NCT01470729
6 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
7 Genetics of Mendelian Forms of Young Onset Alzheimer Disease Active, not recruiting NCT01622894
8 Characterization of the Profile of Dysarthria in Huntington's Disease, Using the Clinical Evaluation Battery of Dysarthria Withdrawn NCT03142217

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:

39
Testes, Brain

Publications for Autosomal Dominant Cerebellar Ataxia

Articles related to Autosomal Dominant Cerebellar Ataxia:

(show top 50) (show all 81)
id Title Authors Year
1
Identification of a methylation profile for DNMT1-associated autosomal dominant cerebellar ataxia, deafness, and narcolepsy. ( 27602171 )
2016
2
Autosomal Dominant Cerebellar Ataxia, Deafness, and Narcolepsy (ADCA-DN) Associated With Progressive Cognitive and Behavioral Deterioration. ( 27869457 )
2016
3
A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia. ( 26456284 )
2015
4
Polysomnographic and neurometabolic features may mark preclinical autosomal dominant cerebellar ataxia, deafness, and narcolepsy due to a mutation in the DNA (cytosine-5-)-methyltransferase gene, DNMT1. ( 24709307 )
2014
5
Autosomal dominant cerebellar ataxia with slow ocular saccades, neuropathy and orthostatism: a novel entity? ( 24787759 )
2014
6
IGF-1 in autosomal dominant cerebellar ataxia - open-label trial. ( 26331037 )
2014
7
Autosomal dominant cerebellar ataxia type III: a review of the phenotypic and genotypic characteristics. ( 23331413 )
2013
8
Factors influencing disease progression in autosomal dominant cerebellar ataxia and spastic paraplegia. ( 22491195 )
2012
9
Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy. ( 22328086 )
2012
10
SCA14 in Norway, two families with autosomal dominant cerebellar ataxia and a novel mutation in the PRKCG gene. ( 21434874 )
2012
11
Autosomal dominant cerebellar ataxia type I: a review of the phenotypic and genotypic characteristics. ( 21619691 )
2011
12
Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond. ( 20723845 )
2010
13
Mapping of autosomal dominant cerebellar ataxia without the pathogenic PPP2R2B mutation to the locus for spinocerebellar ataxia 12. ( 20937954 )
2010
14
The chromosome 16q-linked autosomal dominant cerebellar ataxia (16q-ADCA*): A newly identified degenerative ataxia in Japan showing peculiar morphological changes of the Purkinje cell. ( 20667009 )
2010
15
Missense mutations in the AFG3L2 proteolytic domain account for approximately 1.5% of European autosomal dominant cerebellar ataxias. ( 20725928 )
2010
16
Autosomal dominant cerebellar ataxia: frequency analysis and clinical characterization of 45 families from Portugal. ( 19659750 )
2010
17
Prevalence of autosomal dominant cerebellar ataxia in Aomori, the northernmost prefecture of Honshu, Japan. ( 21088341 )
2010
18
Chromosome 16q22.1-linked autosomal dominant cerebellar ataxia: an autopsy case report with some new observations on cerebellar pathology. ( 18627481 )
2009
19
Peripheral neuropathy in chromosome16q22.1 linked autosomal dominant cerebellar ataxia. ( 21686672 )
2009
20
[Copy number variation of trinucleotide repeat in dynamic mutation sites of autosomal dominant cerebellar ataxias related genes]. ( 19953483 )
2009
21
Severity and progression rate of cerebellar ataxia in 16q-linked autosomal dominant cerebellar ataxia (16q-ADCA) in the endemic Nagano Area of Japan. ( 18855094 )
2009
22
The effect of piracetam on ataxia: clinical observations in a group of autosomal dominant cerebellar ataxia patients. ( 18315783 )
2008
23
Spinocerebellar ataxia type 28: a novel autosomal dominant cerebellar ataxia characterized by slow progression and ophthalmoparesis. ( 18769991 )
2008
24
Redefining the disease locus of 16q22.1-linked autosomal dominant cerebellar ataxia. ( 17611710 )
2007
25
Clinical and genetic epidemiological study of 16q22.1-linked autosomal dominant cerebellar ataxia in western Japan. ( 17661799 )
2007
26
16q-linked autosomal dominant cerebellar ataxia in a Korean family. ( 17539927 )
2007
27
Peripheral neuropathy in chromosome16q22.1 linked autosomal dominant cerebellar ataxia. ( 17702787 )
2007
28
SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2. ( 16251216 )
2006
29
16q-linked autosomal dominant cerebellar ataxia: a clinical and genetic study. ( 16780885 )
2006
30
Clinical features of chromosome 16q22.1 linked autosomal dominant cerebellar ataxia in Japanese. ( 17030774 )
2006
31
A -16C>T substitution in the 5' UTR of the puratrophin-1 gene is prevalent in autosomal dominant cerebellar ataxia in Nagano. ( 16614795 )
2006
32
On autosomal dominant cerebellar ataxia (ADCA) other than polyglutamine diseases, with special reference to chromosome 16q22.1-linked ADCA. ( 16961073 )
2006
33
An autosomal dominant cerebellar ataxia linked to chromosome 16q22.1 is associated with a single-nucleotide substitution in the 5' untranslated region of the gene encoding a protein with spectrin repeat and Rho guanine-nucleotide exchange-factor domains. ( 16001362 )
2005
34
Regional features of autosomal-dominant cerebellar ataxia in Nagano: clinical and molecular genetic analysis of 86 families. ( 15480876 )
2004
35
Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis. ( 15099544 )
2004
36
Mapping of the SCA23 locus involved in autosomal dominant cerebellar ataxia to chromosome region 20p13-12.3. ( 15306549 )
2004
37
Fine mapping of 16q-linked autosomal dominant cerebellar ataxia type III in Japanese families. ( 15455264 )
2004
38
Autosomal dominant cerebellar ataxia: SCA2 is the most frequent mutation in eastern India. ( 14966163 )
2004
39
Identification of a novel SCA14 mutation in a Dutch autosomal dominant cerebellar ataxia family. ( 14694043 )
2003
40
Physical map and haplotype analysis of 16q-linked autosomal dominant cerebellar ataxia (ADCA) type III in Japan. ( 12624721 )
2003
41
Autosomal dominant cerebellar ataxia type 1 in a Sudanese family. ( 23978915 )
2002
42
Identification of a novel SCA locus ( SCA19) in a Dutch autosomal dominant cerebellar ataxia family on chromosome region 1p21-q21. ( 12384780 )
2002
43
Prevalence and ethnic differences of autosomal-dominant cerebellar ataxia in Singapore. ( 12485197 )
2002
44
Presymptomatic testing in Huntington's disease and autosomal dominant cerebellar ataxias. ( 12427879 )
2002
45
Ocular motility in genetically defined autosomal dominant cerebellar ataxia. ( 11992880 )
2002
46
Spinocerebellar ataxia type 7: a distinctive form of autosomal dominant cerebellar ataxia with retinopathy and marked genetic anticipation. ( 11168877 )
2001
47
Clinical and genetic analysis of a four-generation family with a distinct autosomal dominant cerebellar ataxia. ( 11284128 )
2001
48
CAG repeat expansion in the TATA box-binding protein gene causes autosomal dominant cerebellar ataxia. ( 11571212 )
2001
49
A linkage disequilibrium at the candidate gene locus for 16q-linked autosomal dominant cerebellar ataxia type III in Japan. ( 11322654 )
2001
50
SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein. ( 11448935 )
2001

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 GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.7 ATXN1 ATXN10 ATXN2 ATXN3 ATXN7 FGF14
2
Show member pathways
12.16 ATXN1 ATXN10 ATXN2 ATXN3 ATXN7
3 11.55 CACNA1A ITPR1 PRKCG
4 11.38 CACNA1A ITPR1 KCNC3 PPP2R2B PRKCG
5 11.21 CACNA1A ITPR1 PRKCG

GO Terms for Autosomal Dominant Cerebellar Ataxia

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

id Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.8 ATN1 ATXN1 ATXN10 ATXN2 ATXN3 ATXN7
2 perinuclear region of cytoplasm GO:0048471 9.65 ATN1 ATXN10 ATXN2 ITPR1 PRKCG
3 dendrite GO:0030425 9.62 ATXN10 CACNA1A KCNC3 PRKCG
4 nuclear inclusion body GO:0042405 9.16 ATXN1 ATXN3
5 nuclear matrix GO:0016363 8.92 ATN1 ATXN1 ATXN3 ATXN7

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

id 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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....