MCID: SPN291
MIFTS: 52

Spinocerebellar Ataxia 7

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

Aliases & Classifications for Spinocerebellar Ataxia 7

MalaCards integrated aliases for Spinocerebellar Ataxia 7:

Name: Spinocerebellar Ataxia 7 53 49 71 28 13
Spinocerebellar Ataxia Type 7 12 23 49 55 51 14 69
Sca7 53 49 55 71
Opca Iii 53 49 71
Opca3 53 49 71
Opca with Macular Degeneration and External Ophthalmoplegia 53 49
Olivopontocerebellar Atrophy Iii 53 71
Opca with Retinal Degeneration 53 49
Olivopontocerebellar Atrophy 3 49 69
Adca, Type Ii 53 49
Olivopontocerebellar Atrophy with Retinal Degeneration 71
Cerebellar Syndrome-Pigmentary Maculopathy Syndrome 55
Autosomal Dominant Cerebellar Ataxia, Type Ii 53
Autosomal Dominant Cerebellar Ataxia Type 2 49
Olivopontocerebellar Atrophy Iii; Opca3 53
Ataxia with Pigmentary Retinopathy 55
Sca 7 23

Characteristics:

Orphanet epidemiological data:

55
spinocerebellar ataxia type 7
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood,Elderly,Infancy; Age of death: any age;

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
genetic anticipation
paternal anticipation bias
mean age at onset 32 years



GeneReviews:

23
Penetrance See molecular genetic testing...

Classifications:



Summaries for Spinocerebellar Ataxia 7

NIH Rare Diseases : 49 Spinocerebellar ataxia 7 (SCA7) is an inherited disease of the central nervous system that leads to impairment of specific nerve fibers carrying messages to and from the brain, resulting in degeneration of the cerebellum (the coordination center of the brain). SCA7 differs from most other forms of SCA in that visual problems, rather than poor coordination, are generally the earliest signs of the disease. Affected individuals have progressive changes in vision (which can result in blindness); symptoms of ataxia; slow eye movements; and mild changes in sensation or reflexes. Later symptoms include loss of motor control, unclear speech (dysarthria), and difficulty swallowing (dysphagia). Onset in early childhood or infancy has an especially rapid and aggressive course often associated with failure to thrive and regression of motor milestones. SCA7 is caused by mutations in the ATXN7 gene and is inherited in an autosomal dominant manner. Treatment is generally symptomatic and supportive. Last updated: 7/12/2011

MalaCards based summary : Spinocerebellar Ataxia 7, also known as spinocerebellar ataxia type 7, is related to aceruloplasminemia and spinocerebellar ataxia, autosomal recessive 7, and has symptoms including tremor, abnormality of extrapyramidal motor function and nystagmus. An important gene associated with Spinocerebellar Ataxia 7 is ATXN7 (Ataxin 7), and among its related pathways/superpathways are Chromatin organization and Validated targets of C-MYC transcriptional activation. Affiliated tissues include eye, cerebellum and spinal cord, and related phenotypes are Increased Nanog expression and Increased Nanog expression

OMIM : 53 Spinocerebellar ataxia-7 (SCA7) is an autosomal dominant neurodegenerative disorder characterized by adult onset of progressive cerebellar ataxia associated with pigmental macular dystrophy. In her classification of ataxia, Harding (1982) referred to progressive cerebellar ataxia with pigmentary macular degeneration as type II ADCA (autosomal dominant cerebellar ataxia). The age at onset, degree of severity, and rate of progression vary among and within families. Associated neurologic signs, such as ophthalmoplegia, pyramidal or extrapyramidal signs, deep sensory loss, or dementia, are also variable. Genetic anticipation is observed and is greater in paternal than in maternal transmissions (Benomar et al., 1994; summary by David et al., 1996). For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400). (164500)

UniProtKB/Swiss-Prot : 71 Spinocerebellar ataxia 7: 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. SCA7 belongs to the autosomal dominant cerebellar ataxias type II (ADCA II) which are characterized by cerebellar ataxia with retinal degeneration and pigmentary macular dystrophy.

GeneReviews: NBK1256

Related Diseases for Spinocerebellar Ataxia 7

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 Type 16 Spinocerebellar Ataxia Type 19/22
Spinocerebellar Ataxia Autosomal Recessive 5

Diseases related to Spinocerebellar Ataxia 7 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 19)
# Related Disease Score Top Affiliating Genes
1 aceruloplasminemia 29.8 ATXN2 ATXN7
2 spinocerebellar ataxia, autosomal recessive 7 11.6
3 spinocerebellar ataxia 1 10.9
4 ataxia and polyneuropathy, adult-onset 10.4
5 autosomal dominant cerebellar ataxia 10.4
6 olivopontocerebellar atrophy 10.2 ATXN2 ATXN7
7 hereditary ataxia 10.2 ATXN2 ATXN7
8 spinocerebellar ataxia 2 10.2 ATXN2 ATXN7
9 spinocerebellar ataxia 12 10.1 ATXN2 ATXN7
10 dentatorubral-pallidoluysian atrophy 10.1 ATXN2 ATXN7
11 machado-joseph disease 10.0 ATXN2 ATXN7
12 retinitis 10.0
13 retinal degeneration 10.0
14 neuronitis 10.0
15 ceroid lipofuscinosis, neuronal, 1 9.9
16 polyarteritis nodosa, childhood-onset 9.9
17 neuronal ceroid lipofuscinosis 9.9
18 cerebellar degeneration 9.9
19 cone-rod dystrophy 2 9.9 ATXN7 CRX

Graphical network of the top 20 diseases related to Spinocerebellar Ataxia 7:



Diseases related to Spinocerebellar Ataxia 7

Symptoms & Phenotypes for Spinocerebellar Ataxia 7

Symptoms via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
spasticity
dysarthria
hyperreflexia
dysphagia
chorea
more
Head And Neck Eyes:
optic atrophy
macular degeneration
supranuclear ophthalmoplegia
pigmentary retinal degeneration
slow saccades
more

Clinical features from OMIM:

164500

Human phenotypes related to Spinocerebellar Ataxia 7:

31 (show all 20)
# Description HPO Frequency HPO Source Accession
1 tremor 31 very rare (1%) HP:0001337
2 abnormality of extrapyramidal motor function 31 HP:0002071
3 nystagmus 31 very rare (1%) HP:0000639
4 spasticity 31 HP:0001257
5 dysarthria 31 very rare (1%) HP:0001260
6 hyperreflexia 31 very rare (1%) HP:0001347
7 dysphagia 31 HP:0002015
8 chorea 31 HP:0002072
9 optic atrophy 31 very rare (1%) HP:0000648
10 progressive visual loss 31 HP:0000529
11 babinski sign 31 HP:0003487
12 dysmetria 31 HP:0001310
13 macular degeneration 31 HP:0000608
14 mental deterioration 31 occasional (7.5%) HP:0001268
15 supranuclear ophthalmoplegia 31 HP:0000623
16 slow saccadic eye movements 31 HP:0000514
17 pigmentary retinopathy 31 HP:0000580
18 progressive cerebellar ataxia 31 very rare (1%) HP:0002073
19 orofacial dyskinesia 31 HP:0002310
20 olivopontocerebellar atrophy 31 HP:0002542

UMLS symptoms related to Spinocerebellar Ataxia 7:


abnormality of extrapyramidal motor function, abnormal pyramidal signs, muscle spasticity

GenomeRNAi Phenotypes related to Spinocerebellar Ataxia 7 according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased Nanog expression GR00371-A-1 9.28 ATXN2 TRRAP
2 Increased Nanog expression GR00371-A-2 9.28 TRRAP ATXN2
3 Increased Nanog expression GR00371-A-3 9.28 TRRAP
4 Increased Nanog expression GR00371-A-5 9.28 TRRAP ATXN2 KAT2B TAF9

Drugs & Therapeutics for Spinocerebellar Ataxia 7

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 RISCA : Prospective Study of Individuals at Risk for SCA1, SCA2, SCA3, SCA6, SCA7 Unknown status NCT01037777
3 Biomarkers in Autosomal Dominant Cerebellar Ataxia Completed NCT01470729
4 Natural History of Spinocerebellar Ataxia Type 7 (SCA7) Recruiting NCT02741440
5 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Spinocerebellar Ataxia 7

Genetic Tests for Spinocerebellar Ataxia 7

Genetic tests related to Spinocerebellar Ataxia 7:

# Genetic test Affiliating Genes
1 Spinocerebellar Ataxia 7 28 ATXN7

Anatomical Context for Spinocerebellar Ataxia 7

MalaCards organs/tissues related to Spinocerebellar Ataxia 7:

38
Eye, Cerebellum, Spinal Cord, Brain, Testes, Retina

Publications for Spinocerebellar Ataxia 7

Articles related to Spinocerebellar Ataxia 7:

(show top 50) (show all 83)
# Title Authors Year
1
Knockdown and replacement therapy mediated by artificial mirtrons in spinocerebellar ataxia 7. ( 28575281 )
2017
2
RETINAL MANIFESTATIONS OF SPINOCEREBELLAR ATAXIA TYPE 7 IN TWO CONSECUTIVE GENERATIONS. ( 27632585 )
2016
3
Parkinsonism in Spinocerebellar ataxia type 7. ( 27206895 )
2016
4
Spinocerebellar ataxia type 7: a neurodegenerative disorder with peripheral neuropathy. ( 25614072 )
2015
5
Somatic instability of expanded CAG repeats of ATXN7 in Japanese patients with spinocerebellar ataxia type 7. ( 25643591 )
2015
6
Spinocerebellar ataxia 7 (SCA7) in Indian population: predilection of ATXN7-CAG expansion mutation in an ethnic population. ( 25900954 )
2015
7
1264: FAMILIAL SPINOCEREBELLAR ATAXIA TYPE 7: A NEW INFANTILE PRESENTATION WITH COARCTATION OF AORTA. ( 26570925 )
2015
8
Phenotype variability and early onset ataxia symptoms in spinocerebellar ataxia type 7: comparison and correlation with other spinocerebellar ataxias. ( 25608122 )
2015
9
Massive CAG repeat expansion and somatic instability in maternally transmitted infantile spinocerebellar ataxia type 7. ( 25506882 )
2015
10
Spinocerebellar Ataxia 7: A Report of Unaffected Siblings Who Married into Different SCA 7 Families. ( 24883214 )
2014
11
RNA interference-based therapy for spinocerebellar ataxia type 7 retinal degeneration. ( 24759684 )
2014
12
Spinal cord stimulation for gait impairment in spinocerebellar ataxia 7. ( 24390202 )
2014
13
Pulling complexes out of complex diseases: Spinocerebellar Ataxia 7. ( 25054097 )
2014
14
Clinical and molecular effect on offspring of a marriage of consanguineous spinocerebellar ataxia type 7 mutation carriers: a family case report. ( 25664129 )
2014
15
Olfactory performance in spinocerebellar ataxia type 7 patients. ( 24629799 )
2014
16
A comprehensive clinical and genetic study of a large Mexican population with spinocerebellar ataxia type 7. ( 25318446 )
2014
17
Founder effect and ancestral origin of the spinocerebellar ataxia type 7 (SCA7) mutation in Mexican families. ( 24374739 )
2013
18
Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease). ( 23418007 )
2013
19
Spinocerebellar ataxia type 7: clinical course, phenotype-genotype correlations, and neuropathology. ( 22915085 )
2013
20
Spinocerebellar ataxia type 7: Report of an Indian family. ( 24339617 )
2013
21
Disruption of visual and motor connectivity in spinocerebellar ataxia type 7. ( 23926060 )
2013
22
Histone deacetylase-3 interacts with ataxin-7 and is altered in a spinocerebellar ataxia type 7 mouse model. ( 24160175 )
2013
23
Circumscribed outer foveolar defects in spinocerebellar ataxia type 7. ( 25391128 )
2013
24
Origin of the spinocerebellar ataxia type 7 gene mutation in Mexican population. ( 23828024 )
2013
25
Overexpression of HGF attenuates the degeneration of Purkinje cells and Bergmann glia in a knockin mouse model of spinocerebellar ataxia type 7. ( 22426494 )
2012
26
Expanded ataxin-7 cause toxicity by inducing ROS production from NADPH oxidase complexes in a stable inducible Spinocerebellar ataxia type 7 (SCA7) model. ( 22827889 )
2012
27
Spinocerebellar ataxia type 7. ( 21827908 )
2012
28
Spinocerebellar ataxia type 7: report of a new Italian family. ( 23064575 )
2012
29
Reelin is a target of polyglutamine expanded ataxin-7 in human spinocerebellar ataxia type 7 (SCA7) astrocytes. ( 23236151 )
2012
30
Spinocerebellar ataxia type 7 cerebellar disease requires the coordinated action of mutant ataxin-7 in neurons and glia, and displays non-cell-autonomous bergmann glia degeneration. ( 22072678 )
2011
31
Gray and white matter alterations in spinocerebellar ataxia type 7: an in vivo DTI and VBM study. ( 21147232 )
2011
32
Clinical and genetic study of spinocerebellar ataxia type 7 in East Asian population. ( 20819679 )
2010
33
Clinical and genetic study of a Chinese family with spinocerebellar ataxia type 7. ( 20739808 )
2010
34
Polyglutamine toxicity induces rod photoreceptor division, morphological transformation or death in spinocerebellar ataxia 7 mouse retina. ( 20600911 )
2010
35
Two patients with spinocerebellar ataxia type 7 presenting with profound binocular visual loss yet minimal ophthalmoscopic findings. ( 19726939 )
2009
36
Neuro-ophthalmologic features of spinocerebellar ataxia type 7. ( 19726938 )
2009
37
Macular dysfunction and morphology in spinocerebellar ataxia type 7 (SCA 7). ( 19172503 )
2009
38
Ophthalmic features of spinocerebellar ataxia type 7. ( 19726937 )
2009
39
Molecular pathogenesis and cellular pathology of spinocerebellar ataxia type 7 neurodegeneration. ( 18418675 )
2008
40
Spinocerebellar ataxia type 7 presenting as Stargardt's disease. ( 18080847 )
2008
41
Spastic paraparesis as the onset manifestation of spinocerebellar ataxia type 7. ( 18545792 )
2008
42
Spinocerebellar ataxia type 7 mimicking Kearns-Sayre syndrome: a clinical diagnosis is desirable. ( 17720198 )
2008
43
Spinocerebellar ataxia type 7 (SCA7): widespread brain damage in an adult-onset patient with progressive visual impairments in comparison with an adult-onset patient without visual impairments. ( 17971076 )
2008
44
[The clinical features and gene mutation analysis in a pedigree of spinocerebellar ataxia type 7]. ( 17650485 )
2007
45
A conditional pan-neuronal Drosophila model of spinocerebellar ataxia 7 with a reversible adult phenotype suitable for identifying modifier genes. ( 17344386 )
2007
46
Spinocerebellar ataxia type 7 (SCA7): family princeps history, genealogy and geographical distribution. ( 16791360 )
2006
47
Identification and characterization of Spinocerebellar Ataxia Type 7 (SCA7) isoform SCA7b in mice. ( 16297465 )
2005
48
Decreased expression of Hsp27 and Hsp70 in transformed lymphoblastoid cells from patients with spinocerebellar ataxia type 7. ( 16039988 )
2005
49
Spinocerebellar ataxia type 7 (SCA7): first report of a systematic neuropathological study of the brain of a patient with a very short expanded CAG-repeat. ( 16389941 )
2005
50
Anatomical and functional characteristics in atrophic maculopathy associated with spinocerebellar ataxia type 7. ( 15860307 )
2005

Variations for Spinocerebellar Ataxia 7

ClinVar genetic disease variations for Spinocerebellar Ataxia 7:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ATXN7 NM_000333.3(ATXN7): c.88_90CAG(7_17) (p.Gln37_Gln39del) NT expansion Pathogenic rs193922929 GRCh37 Chromosome 3, 63898362: 63898364

Expression for Spinocerebellar Ataxia 7

Search GEO for disease gene expression data for Spinocerebellar Ataxia 7.

Pathways for Spinocerebellar Ataxia 7

Pathways related to Spinocerebellar Ataxia 7 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.1 ATXN7 KAT2B TAF9 TRRAP
2 11.17 TAF9 TRRAP
3 11.02 KAT2B TRRAP
4 9.97 TAF9 TRRAP

GO Terms for Spinocerebellar Ataxia 7

Cellular components related to Spinocerebellar Ataxia 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transcription factor TFTC complex GO:0033276 9.16 TAF9 TRRAP
2 STAGA complex GO:0030914 8.96 TAF9 TRRAP
3 PCAF complex GO:0000125 8.8 KAT2B TAF9 TRRAP

Biological processes related to Spinocerebellar Ataxia 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.62 ATXN7 CRX KAT2B TAF9
2 protein deubiquitination GO:0016579 9.43 ATXN7 KAT2B TRRAP
3 histone H3 acetylation GO:0043966 9.16 KAT2B TAF9
4 histone acetylation GO:0016573 8.96 KAT2B TRRAP
5 histone deubiquitination GO:0016578 8.62 ATXN7 TRRAP

Molecular functions related to Spinocerebellar Ataxia 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transcription cofactor activity GO:0003712 8.96 KAT2B TRRAP
2 histone acetyltransferase activity GO:0004402 8.62 KAT2B TAF9

Sources for Spinocerebellar Ataxia 7

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
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29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
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41 MeSH
42 MESH via Orphanet
43 MGI
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58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
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70 UMLS via Orphanet
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