SCA8
MCID: SPN304
MIFTS: 39

Spinocerebellar Ataxia 8 (SCA8)

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 8

MalaCards integrated aliases for Spinocerebellar Ataxia 8:

Name: Spinocerebellar Ataxia 8 58 54 76 30 13 6 74
Spinocerebellar Ataxia Type 8 12 25 54 60 15
Sca8 58 25 54 60 76
Ataxia, Spinocerebellar, Type 8 41

Characteristics:

Orphanet epidemiological data:

60
spinocerebellar ataxia type 8
Inheritance: Autosomal dominant; Age of onset: Adult;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
onset between 18 and 65 years
sca8 is caused by bidirectional transcription on chromosome 13q21 involving complementary repeat expansion in atxn8 and atxn8-opposite strand
normal alleles contain 15 to 50 repeats
pathogenic alleles contain 71 to 1,300 repeats


HPO:

33
spinocerebellar ataxia 8:
Inheritance autosomal dominant inheritance


GeneReviews:

25
Penetrance In the large family (mn-a) originally reported to have sca8 (lod 6.8 at ϴ:0.00), affected individuals have longer ctg·cag repeat tracts (mean: 117) than the 21 asymptomatic individuals with a ctg·cag repeat expansion (mean: 92; p<10-6). these results indicate that repeat length plays a role in disease penetrance [koob et al 1999, day et al 2000]. further analysis of other families showed that the pathogenic range can vary among families and that a positive test for an atxn8os/atxn8 expansion, regardless of the repeat size, cannot be used to predict whether an asymptomatic individual will develop ataxia [ranum et al 1999, moseley et al 2000c, worth et al 2000, ikeda et al 2004]...

Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Spinocerebellar Ataxia 8

NIH Rare Diseases : 54 Spinocerebellar ataxia type 8 (SCA8) is an inherited neurodegenerative condition characterized by slowly progressive ataxia (problems with movement, balance, and coordination). This condition typically occurs in adulthood and usually progresses over decades. Common initial symptoms include dysarthria, slow speech, and trouble walking. Some affected individuals experience nystagmus and other abnormal eye movements. Life span is typically not shortened. This condition is inherited in an autosomal dominant manner, although not all individuals with abnormalities in the disease-causing gene will develop the disease (called reduced penetrance).

MalaCards based summary : Spinocerebellar Ataxia 8, also known as spinocerebellar ataxia type 8, is related to spinocerebellar ataxia 12 and autosomal dominant cerebellar ataxia, and has symptoms including tremor, abnormal pyramidal signs and muscle spasticity. An important gene associated with Spinocerebellar Ataxia 8 is ATXN8OS (ATXN8 Opposite Strand LncRNA). Affiliated tissues include eye, spinal cord and cerebellum, and related phenotypes are nystagmus and hyperreflexia

Disease Ontology : 12 An autosomal dominant cerebellar ataxia that is characterized by slowly progressive dysarthria, bradykinesia, nystagmus and loss of coordination, has material basis in mutation in the ATXN80S gene.

UniProtKB/Swiss-Prot : 76 Spinocerebellar ataxia 8: 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. SCA8 is an autosomal dominant cerebellar ataxia (ADCA). It is caused by expansion of a CAG repeat in ATXN8, which is translated into a nearly pure polyglutamine protein which forms 1C2-positive inclusions in Purkinje cells and other neurons.

Description from OMIM: 608768
GeneReviews: NBK1268

Related Diseases for Spinocerebellar Ataxia 8

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 48
Spinocerebellar Ataxia Type 19/22 Grid2-Related Spinocerebellar Ataxia
Spinocerebellar Ataxia Autosomal Recessive 5

Diseases related to Spinocerebellar Ataxia 8 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 27)
# Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia 12 32.0 ATXN8OS PPP2R2B
2 autosomal dominant cerebellar ataxia 30.0 ATXN10 ATXN8OS PPP2R2B
3 spinocerebellar ataxia 36 29.6 ATXN10 PPP2R2B
4 aceruloplasminemia 29.2 ATXN10 PPP2R2B SYNE1
5 mitochondrial dna depletion syndrome 7 11.6
6 spinocerebellar ataxia, autosomal recessive 8 11.4
7 dystonia 10.2
8 huntington disease 10.1
9 epilepsy 10.1
10 progressive myoclonus epilepsy 10.1
11 myotonic dystrophy 10.1
12 myoclonus epilepsy 10.1
13 myotonia atrophica 10.1
14 myoclonus 10.1
15 amyotrophic lateral sclerosis 1 10.0
16 machado-joseph disease 10.0
17 multiple system atrophy 1 10.0
18 parkinson disease, late-onset 10.0
19 fragile x tremor/ataxia syndrome 10.0
20 ataxia and polyneuropathy, adult-onset 10.0
21 lateral sclerosis 10.0
22 corticobasal degeneration 10.0
23 degos 'en cocarde' erythrokeratoderma 10.0
24 huntington disease-like 2 9.7 ATXN10 PPP2R2B
25 cerebellar disease 9.7 ATXN10 PPP2R2B
26 autosomal recessive cerebellar ataxia 9.7 SYNE1 TWNK
27 hereditary ataxia 9.4 ATXN10 PPP2R2B TWNK

Graphical network of the top 20 diseases related to Spinocerebellar Ataxia 8:



Diseases related to Spinocerebellar Ataxia 8

Symptoms & Phenotypes for Spinocerebellar Ataxia 8

Human phenotypes related to Spinocerebellar Ataxia 8:

60 33 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 60 33 frequent (33%) Frequent (79-30%) HP:0000639
2 hyperreflexia 60 33 frequent (33%) Frequent (79-30%) HP:0001347
3 gait ataxia 60 33 frequent (33%) Frequent (79-30%) HP:0002066
4 limb ataxia 60 33 frequent (33%) Frequent (79-30%) HP:0002070
5 dystonia 60 33 frequent (33%) Frequent (79-30%) HP:0001332
6 rigidity 60 33 frequent (33%) Frequent (79-30%) HP:0002063
7 cerebellar atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0001272
8 bradykinesia 60 33 frequent (33%) Frequent (79-30%) HP:0002067
9 cerebellar vermis atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0006855
10 impotence 60 33 frequent (33%) Frequent (79-30%) HP:0000802
11 postural instability 60 33 frequent (33%) Frequent (79-30%) HP:0002172
12 unsteady gait 60 33 frequent (33%) Frequent (79-30%) HP:0002317
13 spastic dysarthria 60 33 frequent (33%) Frequent (79-30%) HP:0002464
14 depressivity 60 33 occasional (7.5%) Occasional (29-5%) HP:0000716
15 dysphagia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002015
16 aspiration 60 33 occasional (7.5%) Occasional (29-5%) HP:0002835
17 urinary incontinence 60 33 occasional (7.5%) Occasional (29-5%) HP:0000020
18 impaired vibratory sensation 60 33 occasional (7.5%) Occasional (29-5%) HP:0002495
19 hypoplasia of the pons 60 33 occasional (7.5%) Occasional (29-5%) HP:0012110
20 impaired smooth pursuit 60 33 occasional (7.5%) Occasional (29-5%) HP:0007772
21 facial grimacing 60 33 occasional (7.5%) Occasional (29-5%) HP:0000273
22 sensory neuropathy 33 occasional (7.5%) HP:0000763
23 spasticity 60 33 Frequent (79-30%) HP:0001257
24 ataxia 60 Frequent (79-30%)
25 dysarthria 33 HP:0001260
26 tremor 33 HP:0001337
27 peripheral neuropathy 33 HP:0009830
28 progressive cerebellar ataxia 33 HP:0002073
29 incoordination 33 HP:0002311
30 slow saccadic eye movements 33 HP:0000514
31 dysmetric saccades 33 HP:0000641
32 morphological abnormality of the pyramidal tract 33 HP:0002062
33 abnormal pyramidal sign 33 HP:0007256

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
nystagmus
impaired smooth pursuit
dysmetric saccades
slow saccades

Neurologic Peripheral Nervous System:
sensory neuropathy has been reported

Neurologic Central Nervous System:
spasticity
dysarthria
tremor
dysphagia
progressive cerebellar ataxia
more

Clinical features from OMIM:

608768

UMLS symptoms related to Spinocerebellar Ataxia 8:


tremor, abnormal pyramidal signs, muscle spasticity

Drugs & Therapeutics for Spinocerebellar Ataxia 8

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Troriluzole in Adult Subjects With Spinocerebellar Ataxia Recruiting NCT03701399 Phase 3 troriluzole;Placebos
2 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Spinocerebellar Ataxia 8

Genetic Tests for Spinocerebellar Ataxia 8

Genetic tests related to Spinocerebellar Ataxia 8:

# Genetic test Affiliating Genes
1 Spinocerebellar Ataxia 8 30 ATXN8 ATXN8OS

Anatomical Context for Spinocerebellar Ataxia 8

MalaCards organs/tissues related to Spinocerebellar Ataxia 8:

42
Eye, Spinal Cord, Cerebellum, Testes, Pons

Publications for Spinocerebellar Ataxia 8

Articles related to Spinocerebellar Ataxia 8:

# Title Authors Year
1
Identification of Abnormal 51 CTA/CTG Expansion as Probably the Shortest Pathogenic Allele for Spinocerebellar Ataxia-8 in China. ( 29943235 )
2018
2
A Case of Two Repeats: Huntington's Disease and Spinocerebellar Ataxia Type 8. ( 30838266 )
2017
3
Sequence configuration of spinocerebellar ataxia type 8 repeat expansions in a Japanese cohort of 797 ataxia subjects. ( 29111027 )
2017
4
The RNA binding KH domain of Spoonbill depletes pathogenic non-coding spinocerebellar ataxia 8 transcripts and suppresses neurodegeneration in Drosophila. ( 27302466 )
2016
5
Spinocerebellar ataxia 8: variable phenotype and unique pathogenesis. ( 19559641 )
2009
6
White matter hyperintense lesions in genetically proven spinocerebellar ataxia 8. ( 17920187 )
2008
7
The spinocerebellar ataxia 8 noncoding RNA causes neurodegeneration and associates with staufen in Drosophila. ( 14972680 )
2004
8
Understanding the dynamics of Spinocerebellar Ataxia 8 (SCA8) locus through a comparative genetic approach in humans and apes. ( 12505613 )
2003
9
The vestibulo-ocular reflex and velocity storage in spinocerebellar ataxia 8. ( 12228985 )
2002
10
Clinical and genetic findings in Finnish ataxia patients with the spinocerebellar ataxia 8 repeat expansion. ( 10976642 )
2000

Variations for Spinocerebellar Ataxia 8

ClinVar genetic disease variations for Spinocerebellar Ataxia 8:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ATXN8; ATXN8OS NG_016173.1: g.37172CTG[(107_127)] NT expansion Pathogenic,risk factor

Expression for Spinocerebellar Ataxia 8

Search GEO for disease gene expression data for Spinocerebellar Ataxia 8.

Pathways for Spinocerebellar Ataxia 8

GO Terms for Spinocerebellar Ataxia 8

Sources for Spinocerebellar Ataxia 8

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
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45 MeSH
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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