SCA7
MCID: SPN291
MIFTS: 52

Spinocerebellar Ataxia 7 (SCA7)

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

Aliases & Classifications for Spinocerebellar Ataxia 7

MalaCards integrated aliases for Spinocerebellar Ataxia 7:

Name: Spinocerebellar Ataxia 7 56 52 73 29 13 6
Spinocerebellar Ataxia Type 7 12 24 52 58 54 15 71
Sca7 56 52 58 73
Opca Iii 56 52 73
Opca3 56 52 73
Opca with Macular Degeneration and External Ophthalmoplegia 56 52
Autosomal Dominant Cerebellar Ataxia Type 2 52 58
Olivopontocerebellar Atrophy Iii 56 73
Opca with Retinal Degeneration 56 52
Olivopontocerebellar Atrophy 3 52 71
Adca, Type Ii 56 52
Olivopontocerebellar Atrophy with Retinal Degeneration 73
Cerebellar Syndrome-Pigmentary Maculopathy Syndrome 58
Autosomal Dominant Cerebellar Ataxia, Type Ii 56
Autosomal Dominant Cerebellar Ataxia Type Ii 58
Olivopontocerebellar Atrophy Iii; Opca3 56
Ataxia with Pigmentary Retinopathy 58
Ataxia, Spinocerebellar, Type 7 39
Adcaii 58
Sca 7 24
Adca2 58

Characteristics:

Orphanet epidemiological data:

58
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:

56
Miscellaneous:
genetic anticipation
paternal anticipation bias
mean age at onset 32 years

Inheritance:
autosomal dominant



GeneReviews:

24
Penetrance See molecular genetic testing.

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases


Summaries for Spinocerebellar Ataxia 7

NIH Rare Diseases : 52 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.

MalaCards based summary : Spinocerebellar Ataxia 7, also known as spinocerebellar ataxia type 7, is related to spinocerebellar ataxia 1 and spinocerebellar ataxia 36, and has symptoms including abnormality of extrapyramidal motor function, muscle spasticity and abnormal pyramidal signs. An important gene associated with Spinocerebellar Ataxia 7 is ATXN7 (Ataxin 7), and among its related pathways/superpathways are Deubiquitination and Chromatin organization. The drugs Riluzole and Excitatory Amino Acid Antagonists have been mentioned in the context of this disorder. Affiliated tissues include eye, cerebellum and brain, and related phenotypes are hyperreflexia and dysarthria

Disease Ontology : 12 An autosomal dominant cerebellar ataxia that is characterized by ataxia, progressive vision loss, and failure to thrive, has material basis in mutation in the ATXN7 gene.

OMIM : 56 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 : 73 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 6 family:

Spinocerebellar Ataxia 31 Spinocerebellar Ataxia 29
Spinocerebellar Ataxia 34 Spinocerebellar Ataxia 1
Spinocerebellar Ataxia 7 Spinocerebellar Ataxia 2
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, Autosomal Recessive 28 Spinocerebellar Ataxia Type 19/22
Grid2-Related Spinocerebellar Ataxia Spinocerebellar Ataxia Autosomal Recessive 5

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

(show top 50) (show all 92)
# Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia 1 31.0 MIR9-1 CHERP ATXN8OS ATXN7 ATXN3 ATXN2
2 spinocerebellar ataxia 36 30.3 ATXN8OS ATXN2
3 dentatorubral-pallidoluysian atrophy 30.0 ATXN7 ATXN3 ATXN2 ATXN1
4 spinocerebellar ataxia 2 29.9 ATXN8OS ATXN7 ATXN3 ATXN2
5 cerebellar disease 29.8 H2AC18 ATXN7 ATXN3 ATXN2 ATXN1
6 spinocerebellar ataxia 17 29.7 ATXN7 ATXN3 ATXN2 ATXN1
7 spinocerebellar ataxia 4 29.7 ATXN7 ATXN3 ATXN2 ATXN1
8 restless legs syndrome 29.5 LOC108660406 ATXN7 ATXN3 ATXN2 ATXN1
9 huntington disease 29.3 HSPA4 CHERP ATXN7 ATXN3 ATXN1
10 machado-joseph disease 29.0 CHERP ATXN8OS ATXN7 ATXN3 ATXN2 ATXN1
11 hereditary ataxia 28.9 H2AC18 ATXN8OS ATXN7 ATXN3 ATXN2 ATXN1
12 autosomal dominant cerebellar ataxia 28.9 SCAANT1 MIR9-1 LOC108660406 HSPA4 H2AC18 ATXN8OS
13 spinocerebellar ataxia, autosomal recessive 7 11.9
14 ataxia and polyneuropathy, adult-onset 10.7
15 olivopontocerebellar atrophy 10.5
16 retinal degeneration 10.4
17 yemenite deaf-blind hypopigmentation syndrome 10.3
18 dysphagia 10.3
19 solar retinopathy 10.2
20 color blindness 10.2
21 pathologic nystagmus 10.2
22 ceroid storage disease 10.2
23 neuronal ceroid-lipofuscinoses 10.2
24 cone-rod dystrophy 2 10.2
25 kearns-sayre syndrome 10.2
26 cerebellar ataxia type 47 10.2 ATXN7L3B ATXN1
27 arthrogryposis, distal, type 4 10.2 H2AC18 ENY2
28 mucocutaneous leishmaniasis 10.1 HSPA4 H2AC18
29 retinitis pigmentosa 1 10.1
30 retinitis pigmentosa 10.1
31 neuroretinitis 10.1
32 retinitis 10.1
33 night blindness, congenital stationary, autosomal dominant 2 10.1
34 occult macular dystrophy 10.1
35 stargardt disease 10.1
36 cone dystrophy 10.1
37 corneal edema 10.1
38 telangiectasis 10.1
39 focal segmental glomerulosclerosis 10.1
40 motor peripheral neuropathy 10.1
41 movement disease 10.1
42 retinal disease 10.1
43 muscular atrophy 10.1
44 scotoma 10.1
45 myotonic dystrophy 10.1
46 mitochondrial disorders 10.1
47 cerebral atrophy 10.1
48 posttransplant acute limbic encephalitis 10.1
49 ceroid lipofuscinosis, neuronal, 3 10.0
50 ceroid lipofuscinosis, neuronal, 2 10.0

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



Diseases related to Spinocerebellar Ataxia 7

Symptoms & Phenotypes for Spinocerebellar Ataxia 7

Human phenotypes related to Spinocerebellar Ataxia 7:

58 31 (show all 43)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperreflexia 58 31 very rare (1%) Obligate (100%) HP:0001347
2 dysarthria 58 31 very rare (1%) Obligate (100%) HP:0001260
3 dysmetria 58 31 obligate (100%) Obligate (100%) HP:0001310
4 dysphagia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002015
5 cone/cone-rod dystrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000548
6 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
7 neonatal hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001319
8 muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0001324
9 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
10 feeding difficulties 58 31 frequent (33%) Frequent (79-30%) HP:0011968
11 nystagmus 58 31 very rare (1%) Frequent (79-30%) HP:0000639
12 congestive heart failure 58 31 frequent (33%) Frequent (79-30%) HP:0001635
13 motor delay 58 31 frequent (33%) Frequent (79-30%) HP:0001270
14 ophthalmoplegia 58 31 frequent (33%) Frequent (79-30%) HP:0000602
15 mental deterioration 58 31 occasional (7.5%) Frequent (79-30%) HP:0001268
16 dysdiadochokinesis 58 31 frequent (33%) Frequent (79-30%) HP:0002075
17 babinski sign 58 31 frequent (33%) Frequent (79-30%) HP:0003487
18 cerebellar atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0001272
19 cerebral atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0002059
20 sensory impairment 58 31 frequent (33%) Frequent (79-30%) HP:0003474
21 visual loss 58 31 frequent (33%) Frequent (79-30%) HP:0000572
22 orofacial dyskinesia 58 31 frequent (33%) Frequent (79-30%) HP:0002310
23 restless legs 58 31 frequent (33%) Frequent (79-30%) HP:0012452
24 blindness 58 31 occasional (7.5%) Occasional (29-5%) HP:0000618
25 photophobia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000613
26 psychosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000709
27 macular degeneration 58 31 occasional (7.5%) Occasional (29-5%) HP:0000608
28 hemeralopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0012047
29 optic atrophy 31 very rare (1%) HP:0000648
30 tremor 31 very rare (1%) HP:0001337
31 progressive cerebellar ataxia 31 very rare (1%) HP:0002073
32 spasticity 31 HP:0001257
33 ataxia 58 Obligate (100%)
34 progressive visual loss 31 HP:0000529
35 reduced visual acuity 58 Frequent (79-30%)
36 abnormality of extrapyramidal motor function 31 HP:0002071
37 chorea 31 HP:0002072
38 ophthalmoparesis 58 Frequent (79-30%)
39 pigmentary retinopathy 31 HP:0000580
40 supranuclear ophthalmoplegia 31 HP:0000623
41 olivopontocerebellar atrophy 31 HP:0002542
42 abnormal fundus morphology 58 Frequent (79-30%)
43 slow saccadic eye movements 31 HP:0000514

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
optic atrophy
macular degeneration
supranuclear ophthalmoplegia
pigmentary retinal degeneration
slow saccades
more
Neurologic Central Nervous System:
spasticity
dysphagia
hyperreflexia
dysarthria
dysmetria
more

Clinical features from OMIM:

164500

UMLS symptoms related to Spinocerebellar Ataxia 7:


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

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

26 (show all 25)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-105 9.75 H2AC18
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-11 9.75 HSPA4
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-13 9.75 ATXN3
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.75 H2AC18
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 9.75 H2AC18
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-168 9.75 H2AC18
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-169 9.75 HSPA4
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 9.75 CRX
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-176 9.75 ATXN3
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-2 9.75 ATXN7
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.75 ATXN3 H2AC18
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-27 9.75 ATXN3
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-29 9.75 ATXN7
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 9.75 ATXN3 H2AC18
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-43 9.75 H2AC18
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-52 9.75 ATXN3
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-54 9.75 ATXN3
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-62 9.75 ATXN3
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-63 9.75 HSPA4
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-64 9.75 ATXN7
21 Decreased shRNA abundance (Z-score < -2) GR00366-A-81 9.75 ATXN3
22 Decreased shRNA abundance (Z-score < -2) GR00366-A-85 9.75 ATXN3
23 Decreased shRNA abundance (Z-score < -2) GR00366-A-87 9.75 HSPA4
24 Decreased shRNA abundance (Z-score < -2) GR00366-A-93 9.75 CRX
25 Decreased shRNA abundance (Z-score < -2) GR00366-A-98 9.75 CRX

Drugs & Therapeutics for Spinocerebellar Ataxia 7

Drugs for Spinocerebellar Ataxia 7 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Riluzole Approved, Investigational Phase 2, Phase 3 1744-22-5 5070
2 Excitatory Amino Acid Antagonists Phase 2, Phase 3
3 Neuroprotective Agents Phase 2, Phase 3
4 Neurotransmitter Agents Phase 2, Phase 3
5 Protective Agents Phase 2, Phase 3
6 Anticonvulsants Phase 2, Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Multicenter, Randomized, Double Blind, Placebo Controlled Clinical Trial With Riluzole in Spinocerebellar Ataxia Type 2 Recruiting NCT03347344 Phase 3 Riluzole;Placebo
2 Riluzole in Patients With Spinocerebellar Ataxia Type 7: a Randomized , Double-blind, Placebo-controlled Pilot Trial With a Lead in Phase Not yet recruiting NCT03660917 Phase 2, Phase 3 Riluzole;Placebo
3 Prospective Study of Individuals at Risk for Spinocerebellar Ataxia Type 1, Type 2, Type 3, Type 6 and Type 7 (SCA1, SCA2, SCA3, SCA6, SCA7) Unknown status NCT01037777
4 Identification of Biomarkers in Patients With Autosomal Dominant Cerebellar Ataxia Completed NCT01470729
5 Natural History of Spinocerebellar Ataxia Type 7 (SCA7) Recruiting NCT02741440
6 Generation of Induced Pluripotent Stem (iPS) Cell Lines From Somatic Cells of Participants With Eye Diseases and From Somatic Cells of Matched Controls Recruiting NCT01432847

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 29 ATXN7

Anatomical Context for Spinocerebellar Ataxia 7

MalaCards organs/tissues related to Spinocerebellar Ataxia 7:

40
Eye, Cerebellum, Brain, Spinal Cord, Testes, Retina, Heart

Publications for Spinocerebellar Ataxia 7

Articles related to Spinocerebellar Ataxia 7:

(show top 50) (show all 274)
# Title Authors PMID Year
1
Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion. 24 56 61 54 6
9288099 1997
2
SUMOylation attenuates the aggregation propensity and cellular toxicity of the polyglutamine expanded ataxin-7. 56 24 54 61
19843541 2010
3
Ataxin-7 aggregation and ubiquitination in infantile SCA7 with 180 CAG repeats. 54 24 56 61
15349877 2004
4
Spinocerebellar ataxia type 7 associated with pigmentary retinal dystrophy. 61 54 56 24
14571264 2004
5
Molecular and clinical study of spinocerebellar ataxia type 7 in Chinese kindreds. 54 24 61 56
11030806 2000
6
De novo expansion of intermediate alleles in spinocerebellar ataxia 7. 56 54 24 61
9736784 1998
7
Post-zygotic de novo trinucleotide repeat expansion at spinocerebellar ataxia type 7 locus: evidence from an Indian family. 24 61 56
15750685 2005
8
Expanded polyglutamines induce neurodegeneration and trans-neuronal alterations in cerebellum and retina of SCA7 transgenic mice. 61 56 24
11030754 2000
9
Rapid cloning of expanded trinucleotide repeat sequences from genomic DNA. 56 24 61
9425905 1998
10
Evidence for a common Spinocerebellar ataxia type 7 (SCA7) founder mutation in Scandinavia. 56 54 61
11175279 2000
11
Frequency of spinocerebellar ataxia types 1, 2, 3, 6, and 7 in Australian patients with spinocerebellar ataxia. 56 24
11186889 2000
12
Molecular and clinical study of 18 families with ADCA type II: evidence for genetic heterogeneity and de novo mutation. 56 24
10330346 1999
13
Spinocerebellar ataxia type 7 (SCA7): a neurodegenerative disorder with neuronal intranuclear inclusions. 54 56 61
9536097 1998
14
Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias. 56 24
7477379 1995
15
Autosomal dominant cerebellar ataxia with retinal degeneration: clinical, neuropathologic, and genetic analysis of a large kindred. 24 56
8058146 1994
16
Autosomal dominant cerebellar ataxia with pigmentary macular dystrophy. A clinical and genetic study of eight families. 56 24
8032856 1994
17
Familial olivopontocerebellar atrophy with macular degeneration: a separate entity among the olivopontocerebellar atrophies. 24 56
3705927 1986
18
Hereditary olivopontocerebellar atrophy with retinal degeneration. Report of a family through six generations. 24 56
6021917 1967
19
Familial infantile cerebellar atrophy associated with retinal degeneration. 24 56
5900234 1966
20
Polyglutamine expansion causes neurodegeneration by altering the neuronal differentiation program. 61 56
16434483 2006
21
Interference of Crx-dependent transcription by ataxin-7 involves interaction between the glutamine regions and requires the ataxin-7 carboxy-terminal region for nuclear localization. 61 56
14613968 2004
22
SCA7 knockin mice model human SCA7 and reveal gradual accumulation of mutant ataxin-7 in neurons and abnormalities in short-term plasticity. 61 56
12575948 2003
23
Autosomal recessive cerebellar ataxia with bull's-eye macular dystrophy. 61 56
11860984 2002
24
Polyglutamine-expanded ataxin-7 antagonizes CRX function and induces cone-rod dystrophy in a mouse model of SCA7. 61 56
11580893 2001
25
Spinocerebellar Ataxia Type 7 61 6
20301433 1998
26
Analysis of the dynamic mutation in the SCA7 gene shows marked parental effects on CAG repeat transmission. 54 61 24
9467013 1998
27
The gene for autosomal dominant cerebellar ataxia type II is located in a 5-cM region in 3p12-p13: genetic and physical mapping of the SCA7 locus. 56 61
8940279 1996
28
An expanded CAG repeat sequence in spinocerebellar ataxia type 7. 61 56
8908515 1996
29
EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood. 6
24418350 2014
30
Analysis of CAG repeats in five SCA loci in Mexican population: epidemiological evidence of a SCA7 founder effect. 56
23368522 2014
31
Reduction of mutant ataxin-7 expression restores motor function and prevents cerebellar synaptic reorganization in a conditional mouse model of SCA7. 24 61
23197655 2013
32
Expanded ataxin-7 cause toxicity by inducing ROS production from NADPH oxidase complexes in a stable inducible Spinocerebellar ataxia type 7 (SCA7) model. 61 24
22827889 2012
33
Ataxin-7 associates with microtubules and stabilizes the cytoskeletal network. 24 61
22100762 2012
34
Gcn5 loss-of-function accelerates cerebellar and retinal degeneration in a SCA7 mouse model. 24 61
22002997 2012
35
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. 61 24
22072678 2011
36
CTCF regulates ataxin-7 expression through promotion of a convergently transcribed, antisense noncoding RNA. 61 24
21689595 2011
37
Clinical and genetic study of spinocerebellar ataxia type 7 in East Asian population. 61 24
20819679 2010
38
Clinical and genetic study of a Chinese family with spinocerebellar ataxia type 7. 61 24
20739808 2010
39
EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. 6
20050888 2010
40
Posttranslational modification of ataxin-7 at lysine 257 prevents autophagy-mediated turnover of an N-terminal caspase-7 cleavage fragment. 24 61
19955365 2009
41
Design of RNAi hairpins for mutation-specific silencing of ataxin-7 and correction of a SCA7 phenotype. 61 24
19789634 2009
42
Neuro-ophthalmologic features of spinocerebellar ataxia type 7. 24 61
19726938 2009
43
Two patients with spinocerebellar ataxia type 7 presenting with profound binocular visual loss yet minimal ophthalmoscopic findings. 24 61
19726939 2009
44
Macular dysfunction and morphology in spinocerebellar ataxia type 7 (SCA 7). 24 61
19172503 2009
45
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. 24 61
17971076 2008
46
Molecular pathogenesis and cellular pathology of spinocerebellar ataxia type 7 neurodegeneration. 24 61
18418675 2008
47
The insulin-like growth factor pathway is altered in spinocerebellar ataxia type 1 and type 7. 56
18216249 2008
48
Origin of the SCA7 gene mutation in South Africa: implications for molecular diagnostics. 56
17026624 2006
49
Bergmann glia expression of polyglutamine-expanded ataxin-7 produces neurodegeneration by impairing glutamate transport. 24 61
16936724 2006
50
Anatomical and functional characteristics in atrophic maculopathy associated with spinocerebellar ataxia type 7. 24 61
15860307 2005

Variations for Spinocerebellar Ataxia 7

ClinVar genetic disease variations for Spinocerebellar Ataxia 7:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ATXN7 ATXN7, (CAG)n REPEAT EXPANSIONNT expansion Pathogenic 562100
2 ATXN7 NM_001377405.1(ATXN7):c.89_91AGC[233] (p.Pro40_Pro41insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln)short repeat Pathogenic 626311 3:63898362-63898362 3:63912684-63912685
3 ATXN7 NM_000333.3(ATXN7):c.112_113insCGCCGC (p.Gln38_Gln39insProPro)insertion Uncertain significance 638436 3:63898384-63898385 3:63912708-63912709
4 ATXN7 NM_000333.3(ATXN7):c.1594G>A (p.Gly532Ser)SNV Uncertain significance 638341 3:63976447-63976447 3:63990771-63990771

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
12.37 KAT2B KAT2A H2AC18 ATXN7 ATXN3
2
Show member pathways
12.28 KAT2B KAT2A H2AC18 ENY2 ATXN7L3 ATXN7
3
Show member pathways
12.16 HSPA4 ATXN7 ATXN3 ATXN2 ATXN1
4 11.05 ATXN8OS ATXN3 ATXN2 ATXN1

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 nuclear matrix GO:0016363 9.43 ATXN7 ATXN3 ATXN1
2 Ada2/Gcn5/Ada3 transcription activator complex GO:0005671 9.32 KAT2B KAT2A
3 SAGA complex GO:0000124 9.16 ENY2 ATXN7L3
4 nuclear inclusion body GO:0042405 8.96 ATXN3 ATXN1
5 DUBm complex GO:0071819 8.62 ENY2 ATXN7L3

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

# Name GO ID Score Top Affiliating Genes
1 protein deubiquitination GO:0016579 9.62 KAT2B KAT2A ATXN7 ATXN3
2 nervous system development GO:0007399 9.43 TPP1 KAT2A CRX CHERP ATXN3 ATXN1
3 positive regulation of gluconeogenesis GO:0045722 9.37 KAT2B KAT2A
4 negative regulation of centriole replication GO:0046600 9.26 KAT2B KAT2A
5 internal peptidyl-lysine acetylation GO:0018393 9.16 KAT2B KAT2A
6 histone deubiquitination GO:0016578 8.92 KAT2A ENY2 ATXN7L3 ATXN7

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

# Name GO ID Score Top Affiliating Genes
1 transcription coactivator activity GO:0003713 9.26 KAT2B KAT2A ENY2 ATXN7L3
2 acetyltransferase activity GO:0016407 9.16 KAT2B KAT2A
3 peptide-lysine-N-acetyltransferase activity GO:0061733 8.62 KAT2B KAT2A

Sources for Spinocerebellar Ataxia 7

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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