SCA12
MCID: SPN293
MIFTS: 37

Spinocerebellar Ataxia 12 (SCA12)

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Spinocerebellar Ataxia 12

MalaCards integrated aliases for Spinocerebellar Ataxia 12:

Name: Spinocerebellar Ataxia 12 57 53 74 29 13 6 72
Sca12 57 53 59 74 55
Spinocerebellar Ataxia Type 12 12 53 59 15
Ataxia, Spinocerebellar, Type 12 40

Characteristics:

Orphanet epidemiological data:

59
spinocerebellar ataxia type 12
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
age at onset 8 to 55 years (mean 40 years)
normal cag repeat length is 7 to 32 triplets
pathogenic cag repeat length is 51 to 78 triplets


HPO:

32
spinocerebellar ataxia 12:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0050962
MeSH 44 D020754
ICD10 via Orphanet 34 G11.2
UMLS via Orphanet 73 C1858501
Orphanet 59 ORPHA98762
MedGen 42 C1858501
UMLS 72 C1858501

Summaries for Spinocerebellar Ataxia 12

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 98762DefinitionSpinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported.EpidemiologyPrevalence is unknown. Approximately 40 families have been reported.Clinical descriptionThe age of symptomatic onset ranges from 8 to 55 years with most patients presenting in the 4th decade.EtiologyLike SCA8 the pathogenesis of SCA12 seems to be related to a toxic effect at the RNA level as it is caused by a CAG expansion at the 5' end of the PPP2R2B gene on chromosome 5q31-5q32.PrognosisPrognosis is essentially good. In many cases progression of the illness is slow and in general life expectancy is not affected.Visit the Orphanet disease page for more resources.

MalaCards based summary : Spinocerebellar Ataxia 12, also known as sca12, is related to spinocerebellar ataxia 8 and spinocerebellar ataxia 17, and has symptoms including dysdiadochokinesis and head tremor. An important gene associated with Spinocerebellar Ataxia 12 is PPP2R2B (Protein Phosphatase 2 Regulatory Subunit Bbeta), and among its related pathways/superpathways is Dopamine-DARPP32 Feedback onto cAMP Pathway. Affiliated tissues include cerebellum, eye and spinal cord, and related phenotypes are hyperreflexia and cerebellar atrophy

Disease Ontology : 12 An autosomal dominant cerebellar ataxia that is characterized by minor ataxia and intention tremor, has material basis in CAG expansion of the PPP2R2B gene.

UniProtKB/Swiss-Prot : 74 Spinocerebellar ataxia 12: Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA12 is an autosomal dominant cerebellar ataxia (ADCA).

More information from OMIM: 604326 PS164400

Related Diseases for Spinocerebellar Ataxia 12

Diseases in the Spinocerebellar Ataxia 2 family:

Spinocerebellar Ataxia 31 Spinocerebellar Ataxia 29
Spinocerebellar Ataxia 34 Spinocerebellar Ataxia 1
Spinocerebellar Ataxia 7 Spinocerebellar Ataxia 6
Spinocerebellar Ataxia, Autosomal Recessive 2 Spinocerebellar Ataxia, Autosomal Recessive 3
Spinocerebellar Ataxia 4 Spinocerebellar Ataxia 5
Spinocerebellar Ataxia 10 Spinocerebellar Ataxia 12
Spinocerebellar Ataxia 11 Spinocerebellar Ataxia 13
Spinocerebellar Ataxia 14 Spinocerebellar Ataxia 15
Spinocerebellar Ataxia 17 Spinocerebellar Ataxia, Autosomal Recessive 4
Spinocerebellar Ataxia 19 Spinocerebellar Ataxia 21
Spinocerebellar Ataxia 18 Spinocerebellar Ataxia, Autosomal Recessive 6
Spinocerebellar Ataxia 20 Spinocerebellar Ataxia 25
Spinocerebellar Ataxia 8 Spinocerebellar Ataxia, Autosomal Recessive 7
Spinocerebellar Ataxia 26 Spinocerebellar Ataxia 27
Spinocerebellar Ataxia 23 Spinocerebellar Ataxia 28
Spinocerebellar Ataxia, Autosomal Recessive 8 Spinocerebellar Ataxia 9
Spinocerebellar Ataxia 30 Spinocerebellar Ataxia, Autosomal Recessive 10
Spinocerebellar Ataxia 35 Spinocerebellar Ataxia 32
Spinocerebellar Ataxia 36 Spinocerebellar Ataxia, Autosomal Recessive 11
Spinocerebellar Ataxia, Autosomal Recessive 12 Spinocerebellar Ataxia, Autosomal Recessive 13
Spinocerebellar Ataxia, Autosomal Recessive 14 Spinocerebellar Ataxia, Autosomal Recessive 15
Spinocerebellar Ataxia, Autosomal Recessive 16 Spinocerebellar Ataxia 37
Spinocerebellar Ataxia 38 Spinocerebellar Ataxia 40
Spinocerebellar Ataxia, Autosomal Recessive 17 Spinocerebellar Ataxia, Autosomal Recessive 18
Spinocerebellar Ataxia, Autosomal Recessive 20 Spinocerebellar Ataxia 41
Spinocerebellar Ataxia, Autosomal Recessive 21 Spinocerebellar Ataxia 42
Spinocerebellar Ataxia, Autosomal Recessive 22 Spinocerebellar Ataxia, Autosomal Recessive 23
Spinocerebellar Ataxia 43 Spinocerebellar Ataxia, Autosomal Recessive 24
Spinocerebellar Ataxia, Autosomal Recessive 25 Spinocerebellar Ataxia, Autosomal Recessive 26
Spinocerebellar Ataxia 44 Spinocerebellar Ataxia 45
Spinocerebellar Ataxia 46 Spinocerebellar Ataxia 47
Spinocerebellar Ataxia 48 Spinocerebellar Ataxia, Autosomal Recessive 27
Spinocerebellar Ataxia Type 19/22 Spinocerebellar Ataxia Autosomal Recessive 5

Diseases related to Spinocerebellar Ataxia 12 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 38)
# Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia 8 30.5 PPP2R2B ATXN8OS
2 spinocerebellar ataxia 17 29.6 CACNA1A ATXN3
3 machado-joseph disease 29.4 CACNA1A ATXN3
4 aceruloplasminemia 29.1 PPP2R2B CACNA1A ATXN3
5 friedreich ataxia 1 29.1 CACNA1A ATXN8OS ATXN3
6 dentatorubral-pallidoluysian atrophy 28.9 PPP2R2B CACNA1A ATXN3
7 autosomal dominant cerebellar ataxia 28.5 PPP2R2B CACNA1A ATXN8OS ATXN3
8 spinocerebellar ataxia, autosomal recessive 12 11.4
9 tremor 10.4
10 spinocerebellar ataxia 10 10.4
11 ataxia and polyneuropathy, adult-onset 10.3
12 spasmodic dysphonia 10.2
13 obsolete: laryngeal dyskinesia 10.2
14 huntington disease 10.1
15 multiple system atrophy 1 10.1
16 spasmodic dystonia 10.1
17 fragile x tremor/ataxia syndrome 10.1
18 spinocerebellar ataxia 36 10.1
19 chorea, childhood-onset, with psychomotor retardation 10.1
20 fragile x-associated tremor/ataxia syndrome 10.1
21 choreatic disease 10.1
22 dystonia 10.1
23 pathologic nystagmus 10.1
24 cerebellar degeneration 10.1
25 dysphagia 10.1
26 myoclonus 10.1
27 spinocerebellar degeneration 10.1
28 undetermined early-onset epileptic encephalopathy 9.8 WWOX CACNA1A
29 spinocerebellar ataxia 18 9.6 CACNA1A ATXN3
30 primary cerebellar degeneration 9.6 CACNA1A ATXN3
31 spinocerebellar ataxia 6 9.6 CACNA1A ATXN3
32 spinocerebellar ataxia 2 9.5 CACNA1A ATXN3
33 spinocerebellar ataxia 31 9.4 CACNA1A ATXN3
34 autosomal genetic disease 9.3 CACNA1A ATXN3
35 cerebellar disease 9.2 PPP2R2B CACNA1A ATXN3
36 hereditary ataxia 9.2 PPP2R2B CACNA1A ATXN3
37 spinocerebellar ataxia 1 9.2 CACNA1A ATXN8OS ATXN3
38 nervous system disease 9.1 CACNA1A ATXN3

Graphical network of the top 20 diseases related to Spinocerebellar Ataxia 12:



Diseases related to Spinocerebellar Ataxia 12

Symptoms & Phenotypes for Spinocerebellar Ataxia 12

Human phenotypes related to Spinocerebellar Ataxia 12:

59 32 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperreflexia 59 32 frequent (33%) Frequent (79-30%) HP:0001347
2 cerebellar atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0001272
3 cerebral atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0002059
4 parkinsonism 59 32 frequent (33%) Frequent (79-30%) HP:0001300
5 limb dysmetria 59 32 frequent (33%) Frequent (79-30%) HP:0002406
6 tremor by anatomical site 59 32 frequent (33%) Frequent (79-30%) HP:0030188
7 abnormal pyramidal sign 59 32 occasional (7.5%) Occasional (29-5%) HP:0007256
8 behavioral abnormality 59 32 occasional (7.5%) Occasional (29-5%) HP:0000708
9 intention tremor 59 32 occasional (7.5%) Occasional (29-5%) HP:0002080
10 poor fine motor coordination 59 32 occasional (7.5%) Occasional (29-5%) HP:0007010
11 dementia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000726
12 postural tremor 59 32 occasional (7.5%) Occasional (29-5%) HP:0002174
13 bradykinesia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002067
14 hypokinesia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002375
15 sensorimotor neuropathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0007141
16 unsteady gait 59 32 occasional (7.5%) Occasional (29-5%) HP:0002317
17 action tremor 59 32 Frequent (79-30%) HP:0002345
18 abnormality of eye movement 32 HP:0000496
19 depressivity 32 HP:0000716
20 ataxia 59 Frequent (79-30%)
21 dysarthria 32 HP:0001260
22 gait disturbance 59 Occasional (29-5%)
23 cognitive impairment 59 Occasional (29-5%)
24 anxiety 32 HP:0000739
25 dysmetria 32 HP:0001310
26 cerebral cortical atrophy 32 HP:0002120
27 dysdiadochokinesis 32 HP:0002075
28 progressive cerebellar ataxia 32 HP:0002073
29 abnormal cerebellum morphology 59 Frequent (79-30%)
30 head tremor 32 HP:0002346
31 delusions 32 HP:0000746
32 axial dystonia 32 HP:0002530
33 facial myokymia 32 HP:0000317

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
dysarthria
hyperreflexia
dysmetria
dementia
dysdiadochokinesis
more
Head And Neck Face:
facial myokymia

Neurologic Peripheral Nervous System:
subclinical sensory or sensorimotor neuropathy

Neurologic Behavioral Psychiatric Manifestations:
anxiety
delusions
depression

Head And Neck Eyes:
ocular movement abnormalities

Clinical features from OMIM:

604326

UMLS symptoms related to Spinocerebellar Ataxia 12:


dysdiadochokinesis, head tremor

Drugs & Therapeutics for Spinocerebellar Ataxia 12

Search Clinical Trials , NIH Clinical Center for Spinocerebellar Ataxia 12

Genetic Tests for Spinocerebellar Ataxia 12

Genetic tests related to Spinocerebellar Ataxia 12:

# Genetic test Affiliating Genes
1 Spinocerebellar Ataxia 12 29 PPP2R2B

Anatomical Context for Spinocerebellar Ataxia 12

MalaCards organs/tissues related to Spinocerebellar Ataxia 12:

41
Cerebellum, Eye, Spinal Cord, Testes

Publications for Spinocerebellar Ataxia 12

Articles related to Spinocerebellar Ataxia 12:

(show top 50) (show all 95)
# Title Authors PMID Year
1
Evidence of a common founder for SCA12 in the Indian population. 9 38 8 71
16138911 2005
2
SCA12 is a rare locus for autosomal dominant cerebellar ataxia: a study of an Indian family. 9 38 8 71
11198281 2001
3
Expansion of a novel CAG trinucleotide repeat in the 5' region of PPP2R2B is associated with SCA12. 38 8 71
10581021 1999
4
Molecular and clinical correlation in five Indian families with spinocerebellar ataxia 12. 9 38 8
11761478 2001
5
The CAG repeat in SCA12 functions as a cis element to up-regulate PPP2R2B expression. 38 71
20533062 2010
6
Spinocerebellar Ataxia Type 12 38 71
20301381 2004
7
The SCA12 mutation as a rare cause of spinocerebellar ataxia. 38 8
11708992 2001
8
EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. 71
20050888 2010
9
SCA-12: Tremor with cerebellar and cortical atrophy is associated with a CAG repeat expansion. 8
11171892 2001
10
Hereditary Ataxia Overview 71
20301317 1998
11
Autosomal dominant cerebellar ataxia: phenotypic differences in genetically defined subtypes? 71
9403486 1997
12
Direct detection of novel expanded trinucleotide repeats in the human genome. 8
8348150 1993
13
[Studies on the CAG repeat expansion in patients with hereditary spinocerebellar ataxia from Chinese Han]. 9 38
19953482 2009
14
Utilizing linkage disequilibrium information from Indian Genome Variation Database for mapping mutations: SCA12 case study. 9 38
19417544 2009
15
The spinocerebellar ataxia 12 gene product and protein phosphatase 2A regulatory subunit Bbeta2 antagonizes neuronal survival by promoting mitochondrial fission. 9 38
18940801 2008
16
Screening for premutation in the FMR1 gene in male patients suspected of spinocerebellar ataxia. 9 38
19235102 2008
17
Identification of the porcine homologous of human disease causing trinucleotide repeat sequences. 9 38
17516099 2007
18
Multiplex families with multiple system atrophy. 9 38
17420317 2007
19
Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families. 9 38
15148151 2004
20
Polymorphism of trinucleotide repeats in non-translated regions of SCA8 and SCA12 genes: allele distribution in a Polish control group. 9 38
14960773 2004
21
Analysis of SCA8 and SCA12 loci in 134 Italian ataxic patients negative for SCA1-3, 6 and 7 CAG expansions. 9 38
12140678 2002
22
Early onset autosomal dominant dementia with ataxia, extrapyramidal features, and epilepsy. 9 38
11914409 2002
23
SCA12: an unusual mutation leads to an unusual spinocerebellar ataxia. 9 38
11719278 2001
24
Spasmodic dysphonia as a presenting symptom of spinocerebellar ataxia type 12. 38
31190316 2019
25
Abnormal DaTSCAN and Atypical Parkinsonism in SCA12. 38
31286011 2019
26
Generation of three spinocerebellar ataxia type-12 patients derived induced pluripotent stem cell lines (IGIBi002-A, IGIBi003-A and IGIBi004-A). 38
30130680 2018
27
Genetic testing for clinically suspected spinocerebellar ataxias: report from a tertiary referral centre in India. 38
29666341 2018
28
Frequency of SCA8, SCA10, SCA12, SCA36, FXTAS and C9orf72 repeat expansions in SCA patients negative for the most common SCA subtypes. 38
29316893 2018
29
Clinical Characterization of Genetically Diagnosed Cases of Spinocerebellar Ataxia Type 12 from India. 38
30363072 2018
30
Dentatorubro-Pallidoluysian Atrophy (DRPLA) among 700 Families with Ataxia in Brazil. 38
28432641 2017
31
Trinucleotide repeat disorders. 38
28987184 2017
32
Clinical behaviour of spinocerebellar ataxia type 12 and intermediate length abnormal CAG repeats in PPP2R2B. 38
27864267 2017
33
Spinocerebellar ataxia type 12: clues to pathogenesis. 38
27748686 2016
34
Exploration of CAG triplet repeat in nontranslated region of SCA12 gene. 38
27350687 2016
35
Compound heterozygous intermediate MJD alleles cause cerebellar ataxia with sensory neuropathy. 38
27896316 2016
36
[Recent advances in clinical and genetic research of spinocerebellar ataxia type 36]. 38
26663071 2015
37
Neuropathology and Cellular Pathogenesis of Spinocerebellar Ataxia Type 12. 38
26340331 2015
38
Analysis of SCA8, SCA10, SCA12, SCA17 and SCA19 in patients with unknown spinocerebellar ataxia: a Thai multicentre study. 38
26374734 2015
39
Identification of 46 CAG repeats within PPP2R2B as probably the shortest pathogenic allele for SCA12. 38
25634432 2015
40
Unusual cerebral white matter change in a Chinese family with Spinocerebellar ataxia type 12. 38
25586539 2015
41
Mutational screening of 320 Brazilian patients with autosomal dominant spinocerebellar ataxia. 38
25466696 2014
42
Diffusion tensor imaging of spinocerebellar ataxia type 12. 38
25274186 2014
43
Identification of FXTAS presenting with SCA 12 like phenotype in India. 38
25085749 2014
44
Spinocerebellar ataxias in Brazil--frequencies and modulating effects of related genes. 38
23943520 2014
45
Spinocerebellar ataxias type 8, 12, and 17 and dentatorubro-pallidoluysian atrophy in Czech ataxic patients. 38
22872568 2013
46
Investigation of SCA10 in the Cypriot population: further exclusion of SCA dynamic repeat mutations. 38
23026538 2012
47
Genetic screening of Greek patients with Huntington’s disease phenocopies identifies an SCA8 expansion. 38
22297462 2012
48
Analysis of spinocerebellar ataxias due to expanded triplet repeats in Greek patients with cerebellar ataxia. 38
22520093 2012
49
Identification and quantification of differentially expressed proteins in plasma of spinocerebellar ataxia type 12. 38
22426495 2012
50
Spinocerebellar ataxia type 12. 38
21827912 2012

Variations for Spinocerebellar Ataxia 12

ClinVar genetic disease variations for Spinocerebellar Ataxia 12:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 PPP2R2B NM_181678.2(PPP2R2B): c.86C> T (p.Ala29Val) single nucleotide variant Uncertain significance rs1554126530 5:146080657-146080657 5:146701094-146701094
2 PPP2R2B NM_181675.3(PPP2R2B): c.27CAG[(7_28)[ (p.Ser10[(7-28)]) NT expansion Benign rs10591869 5:146258292-146258294 5:146878729-146878731
3 PPP2R2B NM_181678.2(PPP2R2B): c.-48-22174AGC[9] short repeat Benign rs10591869 5:146258291-146258293 5:146878728-146878730

Expression for Spinocerebellar Ataxia 12

Search GEO for disease gene expression data for Spinocerebellar Ataxia 12.

Pathways for Spinocerebellar Ataxia 12

Pathways related to Spinocerebellar Ataxia 12 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.98 PPP2R2B CACNA1A

GO Terms for Spinocerebellar Ataxia 12

Sources for Spinocerebellar Ataxia 12

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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