MCID: SPN314
MIFTS: 47

Spinocerebellar Ataxia 10

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

Aliases & Classifications for Spinocerebellar Ataxia 10

MalaCards integrated aliases for Spinocerebellar Ataxia 10:

Name: Spinocerebellar Ataxia 10 57 53 75 29 13 6 73
Spinocerebellar Ataxia Type 10 12 24 53 59 15
Sca10 57 24 53 59 75
Ataxia, Spinocerebellar, Type 10 40

Characteristics:

Orphanet epidemiological data:

59
spinocerebellar ataxia type 10
Inheritance: Autosomal dominant; Age of onset: Adult;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
genetic anticipation
reduced penetrance
age at onset 14 to 44 years
patients of brazilian origin have a pure cerebellar atrophy
patients of mexican or amerindian origin have a complicated phenotype with additional neurologic features
normal alleles have 10 to 29 repeats and pathologic alleles have 400 to 4,500 repeats


HPO:

32
spinocerebellar ataxia 10:
Onset and clinical course incomplete penetrance
Inheritance genetic anticipation autosomal dominant inheritance


GeneReviews:

24
Penetrance Penetrance is usually complete. however, apparent reduced penetrance has been reported [alonso et al 2006, matsuura et al 2006, raskin et al 2007]...

Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Spinocerebellar Ataxia 10

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 98761Disease definitionSpinocerebellar ataxia type 10 (SCA10) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar syndrome and epilepsy, sometimes mild pyramidal signs, peripheral neuropathy and neuropsychological disturbances.EpidemiologyPrevalence is unknown. Many kindreds have been found in Mexican and Brazilian populations. SCA10 is the second most common inherited ataxia in these two countries.Clinical descriptionAge of onset ranges from 18 to 45 years (mean age = 32.2 years). The most common type of epilepsy is generalized motor seizures, but partial motor or partial complex seizures can occur.EtiologySCA10 is caused by an ATTCT pentanucleotide repeat expansion in intron 9 of the ATXN10 gene (22q13). Exact pathogenesis has not been determined but RNA processing may be involved.PrognosisPrognosis is poor, especially for patients with refractory epilepsy. Exact disease duration is unknown. However, the mean disease duration can be estimated to be about 13 years.Visit the Orphanet disease page for more resources.

MalaCards based summary : Spinocerebellar Ataxia 10, also known as spinocerebellar ataxia type 10, is related to spinocerebellar ataxia, autosomal recessive 10 and autosomal dominant cerebellar ataxia, and has symptoms including seizures, urgency of micturition and abnormal pyramidal signs. An important gene associated with Spinocerebellar Ataxia 10 is ATXN10 (Ataxin 10), and among its related pathways/superpathways are NGF Pathway and Brain-Derived Neurotrophic Factor (BDNF) signaling pathway. Affiliated tissues include eye, spinal cord and cerebellum, and related phenotypes are nystagmus and depressivity

OMIM : 57 The autosomal dominant cerebellar ataxias (ADCAs) are a clinically and genetically heterogeneous group of disorders characterized by ataxia, dysarthria, dysmetria, and intention tremor. All ADCAs involve some degree of cerebellar dysfunction and a varying degree of signs from other components of the nervous system. A commonly accepted clinical classification (Harding, 1993) divides ADCAs into 3 different groups based on the presence or absence of associated symptoms such as brainstem signs or retinopathy. The presence of pyramidal and extrapyramidal symptoms and ophthalmoplegia makes the diagnosis of ADCA I, the presence of retinopathy points to ADCA II, and the absence of associated signs to ADCA III. Genetic linkage and molecular analyses revealed that ADCAs are genetically heterogeneous even within the various subtypes. For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400). (603516)

UniProtKB/Swiss-Prot : 75 Spinocerebellar ataxia 10: 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. SCA10 is an autosomal dominant cerebellar ataxia (ADCA).

GeneReviews: NBK1175

Related Diseases for Spinocerebellar Ataxia 10

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, Autosomal Recessive 1
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 Type 16
Spinocerebellar Ataxia Type 19/22 Grid2-Related Spinocerebellar Ataxia
Spinocerebellar Ataxia Autosomal Recessive 5

Diseases related to Spinocerebellar Ataxia 10 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia, autosomal recessive 10 11.3
2 autosomal dominant cerebellar ataxia 10.1
3 immature cataract 9.2 CCT3 CNBP

Symptoms & Phenotypes for Spinocerebellar Ataxia 10

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
ocular movement abnormalities

Abdomen Gastrointestinal:
dysphagia

Neurologic Behavioral Psychiatric Manifestations:
depression

Neurologic Central Nervous System:
seizures
dysarthria
hyperreflexia
cognitive impairment
gait ataxia
more
Genitourinary Bladder:
urinary incontinence
urinary urgency

Neurologic Peripheral Nervous System:
nerve conduction abnormalities


Clinical features from OMIM:

603516

Human phenotypes related to Spinocerebellar Ataxia 10:

59 32 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 59 32 Frequent (79-30%) HP:0000639
2 depressivity 59 32 occasional (7.5%) Occasional (29-5%) HP:0000716
3 dysarthria 59 32 hallmark (90%) Very frequent (99-80%) HP:0001260
4 hyperreflexia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001347
5 sleep disturbance 59 32 occasional (7.5%) Occasional (29-5%) HP:0002360
6 dyskinesia 59 32 frequent (33%) Frequent (79-30%) HP:0100660
7 gait ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002066
8 gait imbalance 59 32 frequent (33%) Frequent (79-30%) HP:0002141
9 babinski sign 59 32 occasional (7.5%) Occasional (29-5%) HP:0003487
10 dysmetria 59 32 frequent (33%) Frequent (79-30%) HP:0001310
11 intention tremor 59 32 frequent (33%) Frequent (79-30%) HP:0002080
12 generalized seizures 59 32 frequent (33%) Frequent (79-30%) HP:0002197
13 aggressive behavior 59 32 occasional (7.5%) Occasional (29-5%) HP:0000718
14 dysdiadochokinesis 59 32 frequent (33%) Frequent (79-30%) HP:0002075
15 progressive cerebellar ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002073
16 hyporeflexia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001265
17 cerebellar atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0001272
18 lower limb spasticity 59 32 occasional (7.5%) Occasional (29-5%) HP:0002061
19 focal seizures with impairment of consciousness or awareness 59 32 occasional (7.5%) Occasional (29-5%) HP:0002384
20 status epilepticus 59 32 occasional (7.5%) Occasional (29-5%) HP:0002133
21 scanning speech 59 32 frequent (33%) Frequent (79-30%) HP:0002168
22 apathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000741
23 generalized hypotonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001290
24 unsteady gait 59 32 frequent (33%) Frequent (79-30%) HP:0002317
25 focal motor seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0011153
26 impaired smooth pursuit 59 32 frequent (33%) Frequent (79-30%) HP:0007772
27 gaze-evoked nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0000640
28 urinary urgency 59 32 occasional (7.5%) Occasional (29-5%) HP:0000012
29 eeg with generalized epileptiform discharges 59 32 frequent (33%) Frequent (79-30%) HP:0011198
30 seizures 32 HP:0001250
31 dysphagia 32 HP:0002015
32 abnormal pyramidal signs 32 HP:0007256
33 decreased nerve conduction velocity 32 HP:0000762
34 limb ataxia 32 HP:0002070
35 dementia 32 HP:0000726
36 abnormality of extrapyramidal motor function 32 HP:0002071
37 urinary incontinence 32 HP:0000020
38 incoordination 32 HP:0002311
39 morphological abnormality of the pyramidal tract 32 HP:0002062
40 kinetic tremor 59 Frequent (79-30%)

UMLS symptoms related to Spinocerebellar Ataxia 10:


seizures, urgency of micturition, abnormal pyramidal signs, abnormality of extrapyramidal motor function, dysdiadochokinesis, scanning speech, gait ataxia

GenomeRNAi Phenotypes related to Spinocerebellar Ataxia 10 according to GeneCards Suite gene sharing:

26 (show all 14)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased substrate adherent cell growth GR00193-A-1 10 PLK1
2 Decreased substrate adherent cell growth GR00193-A-2 10 AURKB PLK1 PRKCD
3 Decreased substrate adherent cell growth GR00193-A-3 10 PLK1
4 Decreased substrate adherent cell growth GR00193-A-4 10 AURKB NTRK1 PLK1
5 Decreased viability GR00055-A-2 9.53 PLK1
6 Decreased viability GR00173-A 9.53 PLK1 PRKCD AURKB
7 Decreased viability GR00221-A-1 9.53 PRKCD AURKB
8 Decreased viability GR00221-A-2 9.53 PLK1 PRKCD AURKB
9 Decreased viability GR00221-A-4 9.53 AURKB
10 Decreased viability GR00231-A 9.53 PLK1
11 Decreased viability GR00240-S-1 9.53 PLK1
12 Decreased viability GR00301-A 9.53 PLK1
13 Decreased viability GR00402-S-2 9.53 PLK1 PRKCD AURKB
14 Decreased vesicular stomatitis virus (VSV) infection GR00356-A-1 9.13 AURKB MAP2K1 PLK1

MGI Mouse Phenotypes related to Spinocerebellar Ataxia 10:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.36 MAP2K1 NTRK1 OGT PLK1 PRKCD RAD51

Drugs & Therapeutics for Spinocerebellar Ataxia 10

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Trial in Adult Subjects With Spinocerebellar Ataxia Active, not recruiting NCT02960893 Phase 2, Phase 3 BHV-4157;Placebo Comparator
2 Clinical and Molecular Correlations in Spinocerebellar Ataxia Type 10 (SCA10) Completed NCT00004306
3 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Spinocerebellar Ataxia 10

Genetic Tests for Spinocerebellar Ataxia 10

Genetic tests related to Spinocerebellar Ataxia 10:

# Genetic test Affiliating Genes
1 Spinocerebellar Ataxia 10 29 ATXN10

Anatomical Context for Spinocerebellar Ataxia 10

MalaCards organs/tissues related to Spinocerebellar Ataxia 10:

41
Eye, Spinal Cord, Cerebellum

Publications for Spinocerebellar Ataxia 10

Articles related to Spinocerebellar Ataxia 10:

# Title Authors Year
1
Design of a bioactive small molecule that targets r(AUUCU) repeats in spinocerebellar ataxia 10. ( 27248057 )
2016
2
Inactivation of hnRNP K by expanded intronic AUUCU repeat induces apoptosis via translocation of PKCdelta to mitochondria in spinocerebellar ataxia 10. ( 20548952 )
2010
3
Clinical phenotype of Brazilian families with spinocerebellar ataxia 10. ( 15505178 )
2004

Variations for Spinocerebellar Ataxia 10

ClinVar genetic disease variations for Spinocerebellar Ataxia 10:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ATXN10 NM_013236.3(ATXN10): c.1173+54822_1173+54826ATTCT(360_370) NT expansion Pathogenic rs367543044 GRCh37 Chromosome 22, 46191240: 46191244
2 ATXN10 NM_013236.3(ATXN10): c.1173+54822_1173+54826ATTCT(360_370) NT expansion Pathogenic rs367543044 GRCh38 Chromosome 22, 45795360: 45795364
3 ATXN10 NM_013236.3(ATXN10): c.1173+54822_1173+54826ATTCT(400_760) NT expansion Pathogenic rs367543044 GRCh37 Chromosome 22, 46191240: 46191244
4 ATXN10 NM_013236.3(ATXN10): c.1173+54822_1173+54826ATTCT(400_760) NT expansion Pathogenic rs367543044 GRCh38 Chromosome 22, 45795360: 45795364
5 ATXN10 NM_013236.3(ATXN10): c.1173+54822_1173+54826ATTCT(800_4500) NT expansion Pathogenic rs367543044 GRCh37 Chromosome 22, 46191240: 46191244
6 ATXN10 NM_013236.3(ATXN10): c.1173+54822_1173+54826ATTCT(800_4500) NT expansion Pathogenic rs367543044 GRCh38 Chromosome 22, 45795360: 45795364
7 ATXN10 NM_013236.3(ATXN10): c.1173+54822_1173+54826ATTCT(850) short repeat Pathogenic rs367543044 GRCh37 Chromosome 22, 46191240: 46191240
8 ATXN10 NM_013236.3(ATXN10): c.1173+54822_1173+54826ATTCT(850) short repeat Pathogenic rs367543044 GRCh38 Chromosome 22, 45795360: 45795360
9 ATXN10 NM_013236.3(ATXN10): c.1173+54822_1173+54826ATTCT[280] NT expansion Pathogenic rs367543044 GRCh37 Chromosome 22, 46191240: 46191244
10 ATXN10 NM_013236.3(ATXN10): c.1173+54822_1173+54826ATTCT[280] NT expansion Pathogenic rs367543044 GRCh38 Chromosome 22, 45795360: 45795364

Expression for Spinocerebellar Ataxia 10

Search GEO for disease gene expression data for Spinocerebellar Ataxia 10.

Pathways for Spinocerebellar Ataxia 10

Pathways related to Spinocerebellar Ataxia 10 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.61 MAP2K1 NTRK1 PRKCD
2 11.49 MAP2K1 NTRK1 PRKCD
3 10.86 AURKB CCT3 PLK1
4
Show member pathways
10.81 MAP2K1 PRKCD
5 10.37 AURKB MAP2K1 PLK1

GO Terms for Spinocerebellar Ataxia 10

Cellular components related to Spinocerebellar Ataxia 10 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.63 AURKB CCT3 KCNC3 MAP2K1 PLK1 RAD51
2 cytoplasm GO:0005737 9.4 ATXN10 AURKB CCT3 CNBP HNRNPK KCNC3
3 spindle midzone GO:0051233 9.26 AURKB PLK1
4 condensed nuclear chromosome, centromeric region GO:0000780 8.96 AURKB PLK1
5 cytosol GO:0005829 10.02 ATXN10 AURKB CCT3 CNBP GGCT MAP2K1

Biological processes related to Spinocerebellar Ataxia 10 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 peptidyl-tyrosine phosphorylation GO:0018108 9.5 MAP2K1 NTRK1 PRKCD
2 phosphorylation GO:0016310 9.35 AURKB MAP2K1 NTRK1 PLK1 PRKCD
3 cellular senescence GO:0090398 9.26 MAP2K1 PRKCD
4 positive regulation of proteolysis GO:0045862 9.16 OGT PLK1
5 protein phosphorylation GO:0006468 9.02 AURKB MAP2K1 NTRK1 PLK1 PRKCD

Molecular functions related to Spinocerebellar Ataxia 10 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 kinase activity GO:0016301 9.72 AURKB MAP2K1 NTRK1 PLK1 PRKCD
2 protein serine/threonine kinase activity GO:0004674 9.71 AURKB MAP2K1 PLK1 PRKCD
3 nucleotide binding GO:0000166 9.67 AURKB MAP2K1 PLK1 RAD51
4 ATP binding GO:0005524 9.5 AURKB CCT3 MAP2K1 NTRK1 PLK1 PRKCD
5 protein serine/threonine/tyrosine kinase activity GO:0004712 9.43 AURKB MAP2K1
6 single-stranded DNA binding GO:0003697 9.43 CNBP HNRNPK RAD51
7 kinase binding GO:0019900 9.33 AURKB NTRK1 PRKCD
8 protein kinase activity GO:0004672 9.02 AURKB MAP2K1 NTRK1 PLK1 PRKCD

Sources for Spinocerebellar Ataxia 10

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
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