SCA8
MCID: SPN304
MIFTS: 41

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, muscle spasticity and abnormal pyramidal signs. 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 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 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 29)
# 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 parkinson disease, late-onset 10.3
8 dystonia 10.2
9 spinocerebellar ataxia 10 10.1
10 spinocerebellar ataxia 17 10.1
11 epilepsy 10.1
12 progressive myoclonus epilepsy 10.1
13 myotonic dystrophy 10.1
14 myoclonus epilepsy 10.1
15 myotonia atrophica 10.1
16 myoclonus 10.1
17 ataxia and polyneuropathy, adult-onset 10.0
18 amyotrophic lateral sclerosis 1 10.0
19 machado-joseph disease 10.0
20 huntington disease 10.0
21 multiple system atrophy 1 10.0
22 fragile x tremor/ataxia syndrome 10.0
23 lateral sclerosis 10.0
24 corticobasal degeneration 10.0
25 degos 'en cocarde' erythrokeratoderma 10.0
26 huntington disease-like 2 9.7 ATXN10 PPP2R2B
27 cerebellar disease 9.7 ATXN10 PPP2R2B
28 autosomal recessive cerebellar ataxia 9.7 SYNE1 TWNK
29 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 urinary incontinence 60 33 occasional (7.5%) Occasional (29-5%) HP:0000020
17 impaired vibratory sensation 60 33 occasional (7.5%) Occasional (29-5%) HP:0002495
18 hypoplasia of the pons 60 33 occasional (7.5%) Occasional (29-5%) HP:0012110
19 impaired smooth pursuit 60 33 occasional (7.5%) Occasional (29-5%) HP:0007772
20 facial grimacing 60 33 occasional (7.5%) Occasional (29-5%) HP:0000273
21 aspiration 60 33 occasional (7.5%) Occasional (29-5%) HP:0002835
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 abnormal pyramidal sign 33 HP:0007256
28 peripheral neuropathy 33 HP:0009830
29 progressive cerebellar ataxia 33 HP:0002073
30 incoordination 33 HP:0002311
31 slow saccadic eye movements 33 HP:0000514
32 dysmetric saccades 33 HP:0000641
33 morphological abnormality of the pyramidal tract 33 HP:0002062

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, muscle spasticity, abnormal pyramidal signs

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, Pons, Testes, Brain, Liver

Publications for Spinocerebellar Ataxia 8

Articles related to Spinocerebellar Ataxia 8:

(show top 50) (show all 56)
# Title Authors Year
1
PSP-Phenotype in SCA8: Case Report and Systemic Review. ( 29916049 )
2019
2
Identification of Abnormal 51 CTA/CTG Expansion as Probably the Shortest Pathogenic Allele for Spinocerebellar Ataxia-8 in China. ( 29943235 )
2018
3
Frequency of SCA8, SCA10, SCA12, SCA36, FXTAS and C9orf72 repeat expansions in SCA patients negative for the most common SCA subtypes. ( 29316893 )
2018
4
SCA8 RAN polySer protein preferentially accumulates in white matter regions and is regulated by eIF3F. ( 30206144 )
2018
5
SCA8 should not be tested in isolation for ataxia. ( 28451643 )
2017
6
The RNA binding KH domain of Spoonbill depletes pathogenic non-coding spinocerebellar ataxia 8 transcripts and suppresses neurodegeneration in Drosophila. ( 27302466 )
2016
7
Heterozygous Deletion of KLHL1/ATX8OS at the SCA8 Locus Is Unlikely Associated With Cerebellar Impairment in Humans. ( 25998497 )
2016
8
Analysis of SCA8, SCA10, SCA12, SCA17 and SCA19 in patients with unknown spinocerebellar ataxia: a Thai multicentre study. ( 26374734 )
2015
9
Novel neuronal cytoplasmic inclusions in a patient carrying SCA8 expansion mutation. ( 23711133 )
2014
10
Non-Ataxic Phenotypes of SCA8 Mimicking Amyotrophic Lateral Sclerosis and Parkinson Disease. ( 24285970 )
2013
11
Genetic screening of Greek patients with Huntington’s disease phenocopies identifies an SCA8 expansion. ( 22297462 )
2012
12
Detection of large expansions in SCA8 using a fluorescent repeat-primed PCR assay. ( 22053702 )
2011
13
Coexisting huntingtin and SCA8 repeat expansion: case report of a severe complex neurodegenerative syndrome. ( 20403608 )
2010
14
EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. ( 20050888 )
2010
15
Spinocerebellar ataxia 8: variable phenotype and unique pathogenesis. ( 19559641 )
2009
16
SCA8 repeat expansion: large CTA/CTG repeat alleles in neurological disorders and functional implications. ( 19229559 )
2009
17
SCA8 CAG/CTG expansions, a tale of two TOXICities: a unique or common case? ( 19680445 )
2009
18
White matter hyperintense lesions in genetically proven spinocerebellar ataxia 8. ( 17920187 )
2008
19
Bidirectional expression of the SCA8 expansion mutation: one mutation, two genes. ( 18418692 )
2008
20
Severe symptoms of 16q-ADCA coexisting with SCA8 repeat expansion. ( 18684474 )
2008
21
SCA8 mRNA expression suggests an antisense regulation of KLHL1 and correlates to SCA8 pathology. ( 18708037 )
2008
22
Atypical parkinsonism and SCA8. ( 16368257 )
2006
23
Atypical Parkinsonism and SCA8. ( 16846746 )
2006
24
Targeted deletion of a single Sca8 ataxia locus allele in mice causes abnormal gait, progressive loss of motor coordination, and Purkinje cell dendritic deficits. ( 17005861 )
2006
25
Clinicopathologic investigation of a family with expanded SCA8 CTA/CTG repeats. ( 17060579 )
2006
26
Bidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8. ( 16804541 )
2006
27
Sporadic SCA8 mutation resembling corticobasal degeneration. ( 15823478 )
2005
28
False-positive SCA8 gene test in a patient with pathologically proven multiple system atrophy. ( 15732096 )
2005
29
Giant SCA8 alleles in nine children whose mother has two moderately large ones. ( 15786481 )
2005
30
Early onset of ataxia in a child with a pathogenic SCA8 allele. ( 16087061 )
2005
31
Haplotype diversity and somatic instability in normal and expanded SCA8 alleles. ( 16184604 )
2005
32
Molecular genetics of spinocerebellar ataxia type 8 (SCA8). ( 17132942 )
2005
33
The spinocerebellar ataxia 8 noncoding RNA causes neurodegeneration and associates with staufen in Drosophila. ( 14972680 )
2004
34
Polymorphism of trinucleotide repeats in non-translated regions of SCA8 and SCA12 genes: allele distribution in a Polish control group. ( 14960773 )
2004
35
Genetic testing in spinocerebellar ataxia in Taiwan: expansions of trinucleotide repeats in SCA8 and SCA17 are associated with typical Parkinson's disease. ( 14756671 )
2004
36
Understanding the dynamics of Spinocerebellar Ataxia 8 (SCA8) locus through a comparative genetic approach in humans and apes. ( 12505613 )
2003
37
SCA8 repeat expansion: large CTA/CTG repeat alleles are more common in ataxic patients, including those with SCA6. ( 12545428 )
2003
38
Do CTG expansions at the SCA8 locus cause ataxia? ( 12838526 )
2003
39
SCA8 repeat expansion coexists with SCA1--not only with SCA6. ( 14508711 )
2003
40
Molecular genetics of spinocerebellar ataxia type 8 (SCA8). ( 14526178 )
2003
41
The vestibulo-ocular reflex and velocity storage in spinocerebellar ataxia 8. ( 12228985 )
2002
42
Analysis of SCA8 and SCA12 loci in 134 Italian ataxic patients negative for SCA1-3, 6 and 7 CAG expansions. ( 12140678 )
2002
43
SCA8 in the Spanish population including one homozygous patient. ( 12431257 )
2002
44
Calculating predictive values for the large repeat alleles at the SCA8 locus in patients with ataxia. ( 12471210 )
2002
45
A survey of spinocerebellar ataxia in South Brazil - 66 new cases with Machado-Joseph disease, SCA7, SCA8, or unidentified disease-causing mutations. ( 11697524 )
2001
46
SCA8 repeat expansions in ataxia: a controversial association. ( 11591855 )
2001
47
Clinical and genetic findings in Finnish ataxia patients with the spinocerebellar ataxia 8 repeat expansion. ( 10976642 )
2000
48
Are (CTG)n expansions at the SCA8 locus rare polymorphisms? ( 10700167 )
2000
49
Large, expanded repeats in SCA8 are not confined to patients with cerebellar ataxia. ( 10700168 )
2000
50
High germinal instability of the (CTG)n at the SCA8 locus of both expanded and normal alleles. ( 10712199 )
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

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