MCID: SPN304
MIFTS: 38

Spinocerebellar Ataxia 8

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 8

MalaCards integrated aliases for Spinocerebellar Ataxia 8:

Name: Spinocerebellar Ataxia 8 57 53 75 29 13 6 73
Spinocerebellar Ataxia Type 8 12 24 53 59 15
Sca8 57 53 59 75
Ataxia, Spinocerebellar, Type 8 40
Sca 8 24

Characteristics:

Orphanet epidemiological data:

59
spinocerebellar ataxia type 8
Inheritance: Autosomal dominant; Age of onset: Adult;

OMIM:

57
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:

32
spinocerebellar ataxia 8:
Inheritance autosomal dominant inheritance


GeneReviews:

24
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: 59  
Rare neurological diseases


Summaries for Spinocerebellar Ataxia 8

NIH Rare Diseases : 53 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 autosomal dominant cerebellar ataxia and mitochondrial dna depletion syndrome 7, and has symptoms including muscle spasticity, tremor 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 depressivity

UniProtKB/Swiss-Prot : 75 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 Type 16
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:

# Related Disease Score Top Affiliating Genes
1 autosomal dominant cerebellar ataxia 28.4 ATXN10 ATXN8 ATXN8OS PPP2R2B
2 mitochondrial dna depletion syndrome 7 11.4
3 spinocerebellar ataxia, autosomal recessive 8 11.2
4 multiple system atrophy 1 9.9
5 spinocerebellar ataxia 12 9.7 ATXN8OS PPP2R2B
6 spinocerebellar ataxia 36 9.4 ATXN10 PPP2R2B
7 cerebellar disease 9.3 ATXN10 PPP2R2B
8 autosomal recessive cerebellar ataxia 9.3 SYNE1 TWNK
9 aceruloplasminemia 8.9 ATXN10 PPP2R2B SYNE1
10 hereditary ataxia 8.8 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Spinocerebellar Ataxia 8:

59 32 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0000639
2 depressivity 59 32 occasional (7.5%) Occasional (29-5%) HP:0000716
3 spasticity 59 32 Frequent (79-30%) HP:0001257
4 hyperreflexia 59 32 frequent (33%) Frequent (79-30%) HP:0001347
5 dysphagia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002015
6 gait ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0002066
7 limb ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0002070
8 dystonia 59 32 frequent (33%) Frequent (79-30%) HP:0001332
9 rigidity 59 32 frequent (33%) Frequent (79-30%) HP:0002063
10 cerebellar atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0001272
11 bradykinesia 59 32 frequent (33%) Frequent (79-30%) HP:0002067
12 aspiration 59 32 occasional (7.5%) Occasional (29-5%) HP:0002835
13 cerebellar vermis atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0006855
14 urinary incontinence 59 32 occasional (7.5%) Occasional (29-5%) HP:0000020
15 impotence 59 32 frequent (33%) Frequent (79-30%) HP:0000802
16 unsteady gait 59 32 frequent (33%) Frequent (79-30%) HP:0002317
17 impaired vibratory sensation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002495
18 postural instability 59 32 frequent (33%) Frequent (79-30%) HP:0002172
19 spastic dysarthria 59 32 frequent (33%) Frequent (79-30%) HP:0002464
20 hypoplasia of the pons 59 32 occasional (7.5%) Occasional (29-5%) HP:0012110
21 impaired smooth pursuit 59 32 occasional (7.5%) Occasional (29-5%) HP:0007772
22 facial grimacing 59 32 occasional (7.5%) Occasional (29-5%) HP:0000273
23 ataxia 59 Frequent (79-30%)
24 dysarthria 32 HP:0001260
25 tremor 32 HP:0001337
26 abnormal pyramidal signs 32 HP:0007256
27 sensory neuropathy 32 occasional (7.5%) HP:0000763
28 peripheral neuropathy 32 HP:0009830
29 progressive cerebellar ataxia 32 HP:0002073
30 incoordination 32 HP:0002311
31 slow saccadic eye movements 32 HP:0000514
32 dysmetric saccades 32 HP:0000641
33 morphological abnormality of the pyramidal tract 32 HP:0002062

UMLS symptoms related to Spinocerebellar Ataxia 8:


muscle spasticity, tremor, abnormal pyramidal signs

Drugs & Therapeutics for Spinocerebellar Ataxia 8

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 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 29 ATXN8 ATXN8OS

Anatomical Context for Spinocerebellar Ataxia 8

MalaCards organs/tissues related to Spinocerebellar Ataxia 8:

41
Eye, Spinal Cord, Cerebellum, Testes, Pons

Publications for Spinocerebellar Ataxia 8

Articles related to Spinocerebellar Ataxia 8:

# Title Authors Year
1
The RNA binding KH domain of Spoonbill depletes pathogenic non-coding spinocerebellar ataxia 8 transcripts and suppresses neurodegeneration in Drosophila. ( 27302466 )
2016
2
Spinocerebellar ataxia 8: variable phenotype and unique pathogenesis. ( 19559641 )
2009
3
White matter hyperintense lesions in genetically proven spinocerebellar ataxia 8. ( 17920187 )
2008
4
The spinocerebellar ataxia 8 noncoding RNA causes neurodegeneration and associates with staufen in Drosophila. ( 14972680 )
2004
5
Understanding the dynamics of Spinocerebellar Ataxia 8 (SCA8) locus through a comparative genetic approach in humans and apes. ( 12505613 )
2003
6
The vestibulo-ocular reflex and velocity storage in spinocerebellar ataxia 8. ( 12228985 )
2002
7
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; LOC109461478 NR_002717.2(ATXN8OS): n.1103_1105CTG(15_40) NT expansion Pathogenic,risk factor rs193922930 GRCh37 Chromosome 13, 70713516: 70713518
2 ATXN8; ATXN8OS; LOC109461478 NR_002717.2(ATXN8OS): n.1103_1105CTG(15_40) NT expansion Pathogenic,risk factor rs193922930 GRCh38 Chromosome 13, 70139384: 70139386

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 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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