SCA1
MCID: SPN294
MIFTS: 53

Spinocerebellar Ataxia 1 (SCA1)

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 1

MalaCards integrated aliases for Spinocerebellar Ataxia 1:

Name: Spinocerebellar Ataxia 1 57 20 73 13
Spinocerebellar Ataxia Type 1 12 25 20 43 58 29 54 6 15 71
Sca1 57 25 20 43 58 73
Olivopontocerebellar Atrophy I 57 43 73
Schut-Haymaker Type Opca 57 20 73
Menzel Type Opca 57 20 73
Opca1 57 20 73
Opca4 57 20 73
Cerebelloparenchymal Disorder I 57 73
Olivopontocerebellar Atrophy Iv 57 73
Olivopontocerebellar Atrophy 1 20 71
Spinocerebellar Atrophy I 57 43
Opca Iv 57 73
Opca I 57 73
Cpd1 57 73
Olivopontocerebellar Atrophy Iv; Opca4 57
Olivopontocerebellar Atrophy I; Opca1 57
Cerebelloparenchymal Disorder I; Cpd1 57
Cerebelloparenchymal Disorder 1 20
Ataxia, Spinocerebellar, Type 1 39
Olivopontocerebellar Atrophy 4 20
Type 1 Spinocerebellar Ataxia 43
Spinocerebellar Atrophy 1 20

Characteristics:

Orphanet epidemiological data:

58
spinocerebellar ataxia type 1
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Worldwide); Age of onset: All ages;

OMIM®:

57 (Updated 05-Mar-2021)
Miscellaneous:
genetic anticipation
onset in third or fourth decade
paternal anticipation bias

Inheritance:
autosomal dominant


HPO:

31
spinocerebellar ataxia 1:
Inheritance autosomal dominant inheritance genetic anticipation with paternal anticipation bias
Onset and clinical course adult onset


GeneReviews:

25
Penetrance Penetrance is considered to be greater than 95%, but is age dependent. onset after age 60 years has occasionally been reported [sasaki et al 1996, van de warrenburg et al 2004].

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases


Summaries for Spinocerebellar Ataxia 1

OMIM® : 57 The autosomal dominant cerebellar degenerative disorders are generally referred to as 'spinocerebellar ataxias,' (SCAs) even though 'spinocerebellar' is a hybrid term, referring to both clinical signs and neuroanatomical regions (Margolis, 2003). Neuropathologists have defined SCAs as cerebellar ataxias with variable involvement of the brainstem and spinal cord, and the clinical features of the disorders are caused by degeneration of the cerebellum and its afferent and efferent connections, which involve the brainstem and spinal cord (Schols et al., 2004; Taroni and DiDonato, 2004). Historically, Harding (1982) proposed a clinical classification for autosomal dominant cerebellar ataxias (ADCAs). ADCA I was characterized by cerebellar ataxia in combination with various associated neurologic features, such as ophthalmoplegia, pyramidal and extrapyramidal signs, peripheral neuropathy, and dementia, among others. ADCA II was characterized by the cerebellar ataxia, associated neurologic features, and the additional findings of macular and retinal degeneration. ADCA III was a pure form of late-onset cerebellar ataxia without additional features. SCA1, SCA2 (183090), and SCA3, or Machado-Joseph disease (109150), are considered to be forms of ADCA I. These 3 disorders are characterized at the molecular level by CAG repeat expansions on 6p24-p23, 12q24.1, and 14q32.1, respectively. SCA7 (607640), caused by a CAG repeat expansion in the ATXN7 gene (607640) on chromosome 3p13-p12, is a form of ADCA II. SCA5 (600224), SCA31 (117210), SCA6 (183086), and SCA11 (600432) are associated with phenotypes most suggestive of ADCA III. However, Schelhaas et al. (2000) noted that there is significant phenotypic overlap between different forms of SCA as well as significant phenotypic variability within each subtype. Classic reviews of olivopontocerebellar atrophies and of inherited ataxias in general include those of Konigsmark and Weiner (1970), who identified 5 types of olivopontocerebellar atrophy, Berciano (1982), Harding (1993), Schelhaas et al. (2000), and Margolis (2003). (164400) (Updated 05-Mar-2021)

MalaCards based summary : Spinocerebellar Ataxia 1, also known as spinocerebellar ataxia type 1, is related to spinocerebellar ataxia 2 and spinocerebellar ataxia 10, and has symptoms including abnormality of extrapyramidal motor function, dysdiadochokinesis and scanning speech. An important gene associated with Spinocerebellar Ataxia 1 is ATXN1 (Ataxin 1), and among its related pathways/superpathways is Spinocerebellar ataxia. The drugs Lithium carbonate and Antidepressive Agents have been mentioned in the context of this disorder. Affiliated tissues include eye, spinal cord and cerebellum, and related phenotypes are progressive cerebellar ataxia and dysarthria

Disease Ontology : 12 An autosomal dominant cerebellar ataxia that is characterized by ataxia, dysarthria, dysphagia, dystonia and peripheral neuropathy that begins in early adulthood, has material basis in the expanded (CAG)n trinucleotide repeat of ataxin-1 gene on chromosome 6p22.

MedlinePlus Genetics : 43 Spinocerebellar ataxia type 1 (SCA1) is a condition characterized by progressive problems with movement. People with this condition initially experience problems with coordination and balance (ataxia). Other signs and symptoms of SCA1 include speech and swallowing difficulties, muscle stiffness (spasticity), and weakness in the muscles that control eye movement (ophthalmoplegia). Eye muscle weakness leads to rapid, involuntary eye movements (nystagmus). Individuals with SCA1 may have difficulty processing, learning, and remembering information (cognitive impairment).Over time, individuals with SCA1 may develop numbness, tingling, or pain in the arms and legs (sensory neuropathy); uncontrolled muscle tensing (dystonia); muscle wasting (atrophy); and muscle twitches (fasciculations). Rarely, rigidity, tremors, and involuntary jerking movements (chorea) have been reported in people who have been affected for many years.Signs and symptoms of the disorder typically begin in early adulthood but can appear anytime from childhood to late adulthood. People with SCA1 typically survive 10 to 20 years after symptoms first appear.

GARD : 20 Spinocerebellar ataxia type 1 (SCA1) is a progressive movement disorder that typically begins in early adulthood (but can affect children and older adults as well). Early signs and symptoms includes problems with coordination and balance (ataxia), speech and swallowing difficulties, muscle stiffness, and weakness in the muscles that control eye movement. Over time, SCA1 may cause mental impairment, numbness, tingling, or pain in the arms and legs and uncontrolled muscle tensing, wasting, and twitches. SCA1 is caused by changes in the ATXN1 gene and is inherited in an autosomal dominant fashion. There is currently not a cure for SCA1, but treatments are available to help manage symptoms. People with SCA1 typically survive 10 to 30 years after symptoms first appear.

UniProtKB/Swiss-Prot : 73 Spinocerebellar ataxia 1: 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 cerebellum degeneration with variable involvement of the brainstem and spinal cord. SCA1 belongs to the autosomal dominant cerebellar ataxias type I (ADCA I) which are characterized by cerebellar ataxia in combination with additional clinical features like optic atrophy, ophthalmoplegia, bulbar and extrapyramidal signs, peripheral neuropathy and dementia. SCA1 is caused by expansion of a CAG repeat in the coding region of ATXN1. Longer expansions result in earlier onset and more severe clinical manifestations of the disease.

GeneReviews: NBK1184

Related Diseases for Spinocerebellar Ataxia 1

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, Autosomal Recessive 28 Spinocerebellar Ataxia Type 19/22
Grid2-Related Spinocerebellar Ataxia Spinocerebellar Ataxia Autosomal Recessive 5

Diseases related to Spinocerebellar Ataxia 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 165)
# Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia 2 31.9 HTT CACNA1A ATXN8OS ATXN7 ATXN3 ATN1
2 spinocerebellar ataxia 10 31.8 ATXN8OS ATXN7 ATXN3 ATN1
3 spinocerebellar ataxia 17 31.6 CACNA1A ATXN8OS ATXN7 ATXN3 ATXN1 ATN1
4 spinocerebellar ataxia 7 31.4 MIR9-1 HTT CHERP ATXN8OS ATXN7 ATXN3
5 autosomal dominant cerebellar ataxia type i 30.9 LOC108663993 ATXN3
6 spinocerebellar degeneration 30.7 ATXN3 ATXN1
7 hereditary ataxia 30.5 CACNA1A ATXN8OS ATXN7 ATXN3 ATXN1 ATN1
8 restless legs syndrome 30.4 FRAXA CACNA1A ATXN7 ATXN3 ATXN1
9 fragile x syndrome 30.4 PVALB MIR9-1 HTT FRAXA
10 amyotrophic lateral sclerosis 1 30.4 PVALB MIR9-1 MIR144 HTT ATXN7 ATXN3
11 autosomal dominant cerebellar ataxia 30.4 RBM17 MIR9-1 LOC108663993 HTT CHERP CACNA1A
12 friedreich ataxia 30.4 CACNA1A ATXN8OS ATXN3 ATXN1
13 muscular atrophy 30.4 MIR9-1 HTT ATXN3 ATXN1 AR
14 movement disease 30.2 MIR9-1 HTT CACNA1A
15 machado-joseph disease 30.2 HTT CHERP CACNA1A ATXN8OS ATXN7 ATXN3
16 peripheral nervous system disease 30.2 MIR9-1 MIR144 HTT BLOC1S1
17 huntington disease 30.2 MIR9-1 HTT CHERP ATXN7 ATXN3 ATXN1
18 dystonia 30.2 PVALB HTT CACNA1A ATXN7 ATXN3 ATXN1
19 spinocerebellar ataxia 8 30.1 HTT ATXN8OS ATXN7 ATXN1
20 choreatic disease 30.1 PVALB MIR9-1 HTT CACNA1A ATXN7 ATXN3
21 cerebellar disease 30.0 MIR9-1 HTT CACNA1A BLOC1S1 ATXN8OS ATXN7
22 spinocerebellar ataxia 12 30.0 CACNA1A ATXN8OS ATXN7 ATXN3 ATXN1 ATN1
23 motor neuron disease 30.0 PVALB MIR9-1 HTT AR
24 spinocerebellar ataxia 6 30.0 CACNA1A ATXN8OS ATXN7 ATXN3 ATXN1 ATN1
25 parkinson disease, late-onset 29.8 PVALB MIR9-1 HTT CACNA1A ATXN8OS ATXN7
26 dentatorubral-pallidoluysian atrophy 29.8 RBM17 PVALB MIR9-1 HTT CACNA1A ATXN8OS
27 spinocerebellar ataxia type 1 with axonal neuropathy 11.5
28 spinocerebellar ataxia, x-linked 1 11.3
29 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 11.2
30 spinocerebellar ataxia 37 10.9
31 spinocerebellar ataxia 29 10.8
32 spinocerebellar ataxia 34 10.8
33 mitochondrial dna depletion syndrome 7 10.8
34 spinocerebellar ataxia 5 10.8
35 spinocerebellar ataxia 15 10.8
36 spinocerebellar ataxia 21 10.8
37 spinocerebellar ataxia 20 10.8
38 spinocerebellar ataxia 23 10.8
39 spinocerebellar ataxia 32 10.8
40 spinocerebellar ataxia 36 10.8
41 spinocerebellar ataxia 38 10.8
42 spinocerebellar ataxia 42 10.8
43 spinocerebellar ataxia 43 10.8
44 ataxia and polyneuropathy, adult-onset 10.6
45 spinocerebellar ataxia 30 10.4 CACNA1A ATXN7 ATXN1
46 dystonia 12 10.4 CACNA1A ATXN1 ATN1
47 mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance 10.3 CACNA1A ATXN7 ATXN3
48 episodic ataxia, type 2 10.3 CACNA1A ATXN7 ATXN1
49 3-methylglutaconic aciduria, type iii 10.3
50 episodic ataxia 10.3 CACNA1A ATXN7 ATXN1

Graphical network of the top 20 diseases related to Spinocerebellar Ataxia 1:



Diseases related to Spinocerebellar Ataxia 1

Symptoms & Phenotypes for Spinocerebellar Ataxia 1

Human phenotypes related to Spinocerebellar Ataxia 1:

58 31 (show top 50) (show all 66)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 progressive cerebellar ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002073
2 dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0001260
3 dysphagia 58 31 frequent (33%) Frequent (79-30%) HP:0002015
4 chorea 58 31 frequent (33%) Frequent (79-30%) HP:0002072
5 slurred speech 58 31 frequent (33%) Frequent (79-30%) HP:0001350
6 bulbar signs 58 31 frequent (33%) Frequent (79-30%) HP:0002483
7 dystonia 58 31 frequent (33%) Frequent (79-30%) HP:0001332
8 memory impairment 58 31 frequent (33%) Frequent (79-30%) HP:0002354
9 cerebellar atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0001272
10 atrophy/degeneration affecting the brainstem 58 31 frequent (33%) Frequent (79-30%) HP:0007366
11 abnormal nerve conduction velocity 58 31 frequent (33%) Frequent (79-30%) HP:0040129
12 bradykinesia 58 31 frequent (33%) Frequent (79-30%) HP:0002067
13 inertia 58 31 frequent (33%) Frequent (79-30%) HP:0030216
14 slow saccadic eye movements 58 31 frequent (33%) Frequent (79-30%) HP:0000514
15 upgaze palsy 58 31 frequent (33%) Frequent (79-30%) HP:0025331
16 staring gaze 58 31 frequent (33%) Frequent (79-30%) HP:0025401
17 abnormality of somatosensory evoked potentials 58 31 frequent (33%) Frequent (79-30%) HP:0007377
18 loss of purkinje cells in the cerebellar vermis 58 31 frequent (33%) Frequent (79-30%) HP:0007001
19 abnormal flash visual evoked potentials 58 31 frequent (33%) Frequent (79-30%) HP:0007928
20 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
21 optic atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000648
22 skeletal muscle atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003202
23 dysmetria 58 31 occasional (7.5%) Occasional (29-5%) HP:0001310
24 gait imbalance 58 31 occasional (7.5%) Occasional (29-5%) HP:0002141
25 dysdiadochokinesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002075
26 fasciculations 58 31 occasional (7.5%) Occasional (29-5%) HP:0002380
27 hyporeflexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001265
28 ophthalmoparesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000597
29 impaired proprioception 58 31 occasional (7.5%) Occasional (29-5%) HP:0010831
30 respiratory failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0002878
31 hyperactive deep tendon reflexes 58 31 occasional (7.5%) Occasional (29-5%) HP:0006801
32 generalized hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001290
33 postural tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0002174
34 abnormality of masticatory muscle 58 31 occasional (7.5%) Occasional (29-5%) HP:0410011
35 hypermetric saccades 58 31 occasional (7.5%) Occasional (29-5%) HP:0007338
36 decreased motor nerve conduction velocity 31 very rare (1%) HP:0003431
37 decreased amplitude of sensory action potentials 31 very rare (1%) HP:0007078
38 decreased sensory nerve conduction velocity 31 very rare (1%) HP:0003448
39 cognitive impairment 58 31 Frequent (79-30%) HP:0100543
40 spasticity 31 HP:0001257
41 hyperreflexia 31 HP:0001347
42 abnormality of eye movement 58 Frequent (79-30%)
43 gait disturbance 58 Frequent (79-30%)
44 areflexia 31 HP:0001284
45 abnormality of extrapyramidal motor function 31 HP:0002071
46 peripheral neuropathy 58 Very frequent (99-80%)
47 impaired vibratory sensation 31 HP:0002495
48 babinski sign 31 HP:0003487
49 optic disc pallor 31 HP:0000543
50 scanning speech 31 HP:0002168

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
spasticity
dysarthria
dysphagia
chorea
dysmetria
more
Head And Neck Eyes:
optic atrophy
supranuclear ophthalmoplegia
gaze-evoked nystagmus
dysmetric saccades
impaired horizontal smooth pursuit
more
Genitourinary Bladder:
sphincter disturbances

Abdomen Gastrointestinal:
dysphagia

Neurologic Peripheral Nervous System:
peripheral neuropathy
decreased vibration sense
distal muscle atrophy

Clinical features from OMIM®:

164400 (Updated 05-Mar-2021)

UMLS symptoms related to Spinocerebellar Ataxia 1:


abnormality of extrapyramidal motor function, dysdiadochokinesis, scanning speech, muscle spasticity, ataxia, truncal, abnormal pyramidal signs

Drugs & Therapeutics for Spinocerebellar Ataxia 1

Drugs for Spinocerebellar Ataxia 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lithium carbonate Approved Phase 1 554-13-2
2 Antidepressive Agents Phase 1
3 Psychotropic Drugs Phase 1
4
4-Aminopyridine Approved 504-24-5 1727
5 Potassium Channel Blockers

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Clinical Research on the Safety/Efficacy of Umbilical Cord Mesenchymal Stem Cells Therapy for Patients With Spinocerebellar Ataxia Not yet recruiting NCT03378414 Phase 2
2 Pilot Study of Tolerability of Lithium Therapy in Patients With Spinocerebellar Ataxia Type I (SCA1) Completed NCT00683943 Phase 1 Lithium Carbonate
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 Therapeutic Effect of Dalfampridine on Gait Incoordination in Spinocerebellar Ataxias- A Randomized, Double-blinded, Placebo-controlled, Crossover Clinical Trial Completed NCT01811706 Dalfampridine;Placebo
6 Clinical Trial Readiness for SCA1 and SCA3 Recruiting NCT03487367
7 Clinical Research Consortium for Spinocerebellar Ataxias (CRC-SCA) to Study Natural History Study of and Genetic Modifiers in Spinocerebellar Ataxias (SCA) Recruiting NCT01060371
8 APDM Instrumented Data Exchange for Ataxia (IDEA) Study Recruiting NCT04268147

Search NIH Clinical Center for Spinocerebellar Ataxia 1

Genetic Tests for Spinocerebellar Ataxia 1

Genetic tests related to Spinocerebellar Ataxia 1:

# Genetic test Affiliating Genes
1 Spinocerebellar Ataxia Type 1 29 ATXN1

Anatomical Context for Spinocerebellar Ataxia 1

MalaCards organs/tissues related to Spinocerebellar Ataxia 1:

40
Eye, Spinal Cord, Cerebellum, Brain, Skeletal Muscle, Endothelial, Liver

Publications for Spinocerebellar Ataxia 1

Articles related to Spinocerebellar Ataxia 1:

(show top 50) (show all 632)
# Title Authors PMID Year
1
Spinocerebellar ataxia type 1 (SCA1): phenotype-genotype correlation studies in intermediate alleles. 61 54 25 57 6
11973625 2002
2
Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. 61 57 6 25
8358429 1993
3
The effect of CAT trinucleotide interruptions on the age at onset of spinocerebellar ataxia type 1 (SCA1). 25 61 54 57
10424816 1999
4
Unstable triplet repeat and phenotypic variability of spinocerebellar ataxia type 1. 25 57 54 61
8619528 1996
5
Identification and characterization of the gene causing type 1 spinocerebellar ataxia. 61 6 57
7951322 1994
6
Presymptomatic analysis of spinocerebellar ataxia type 1 (SCA1) via the expansion of the SCA1 CAG-repeat in a large pedigree displaying anticipation and parental male bias. 54 57 61 25
8111382 1993
7
Vascular endothelial growth factor ameliorates the ataxic phenotype in a mouse model of spinocerebellar ataxia type 1. 61 57 25
22001907 2011
8
Insights into the mutational history and prevalence of SCA1 in the Indian population through anchored polymorphisms. 25 57 61
16133185 2005
9
Serine 776 of ataxin-1 is critical for polyglutamine-induced disease in SCA1 transgenic mice. 61 57 25
12741986 2003
10
Over-expression of inducible HSP70 chaperone suppresses neuropathology and improves motor function in SCA1 mice. 25 57 61
11448943 2001
11
Autosomal dominant cerebellar ataxia type I: oculomotor abnormalities in families with SCA1, SCA2, and SCA3. 61 25 57
10525976 1999
12
Expression analysis of the ataxin-1 protein in tissues from normal and spinocerebellar ataxia type 1 individuals. 61 57 25
7647801 1995
13
Clinical, neuropathologic, and genetic studies of a large spinocerebellar ataxia type 1 (SCA1) kindred: (CAG)n expansion and early premonitory signs and symptoms. 25 57 61
7824128 1995
14
Spinocerebellar ataxia types 1, 2, 3, and 6: disease severity and nonataxia symptoms. 57 25
18685131 2008
15
Opposing effects of polyglutamine expansion on native protein complexes contribute to SCA1. 57 54 61
18337722 2008
16
Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis. 25 57
15099544 2004
17
Peripheral nerve involvement in spinocerebellar ataxias. 25 57
14967775 2004
18
Spinocerebellar ataxia type 1 in China: molecular analysis and genotype-phenotype correlation in 5 families. 57 54 61
11346374 2001
19
Repeat instability and motor incoordination in mice with a targeted expanded CAG repeat in the Sca1 locus. 61 54 57
10749985 2000
20
Chaperone suppression of aggregation and altered subcellular proteasome localization imply protein misfolding in SCA1. 57 54 61
9620770 1998
21
Autosomal dominant cerebellar ataxia: phenotypic differences in genetically defined subtypes? 25 57
9403486 1997
22
Cloning and developmental expression analysis of the murine homolog of the spinocerebellar ataxia type 1 gene (Sca1). 61 54 57
8789437 1996
23
Molecular and clinical correlations in spinocerebellar ataxia type I: evidence for familial effects on the age at onset. 57 54 61
8037204 1994
24
Effect of trinucleotide repeat length and parental sex on phenotypic variation in spinocerebellar ataxia I. 25 57
8198139 1994
25
Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I. 57 25
8275090 1993
26
Spinocerebellar ataxia: variable age of onset and linkage to human leukocyte antigen in a large kindred. 57 25
3165612 1988
27
Spinocerebellar ataxia: study of a large kindred. I. General information and genetics. 25 57
4673259 1972
28
Exercise and genetic rescue of SCA1 via the transcriptional repressor Capicua. 61 57
22053053 2011
29
The insulin-like growth factor pathway is altered in spinocerebellar ataxia type 1 and type 7. 61 57
18216249 2008
30
Direct and accurate measurement of CAG repeat configuration in the ataxin-1 (ATXN-1) gene by "dual-fluorescence labeled PCR-restriction fragment length analysis". 25 54 61
18301861 2008
31
ATAXIN-1 interacts with the repressor Capicua in its native complex to cause SCA1 neuropathology. 61 57
17190598 2006
32
RORalpha-mediated Purkinje cell development determines disease severity in adult SCA1 mice. 57 61
17110330 2006
33
Proteasome function is inhibited by polyglutamine-expanded ataxin-1, the SCA1 gene product. 25 54 61
15750336 2005
34
Damage to the reticulotegmental nucleus of the pons in spinocerebellar ataxia type 1, 2, and 3. 57 61
15477548 2004
35
RNAi suppresses polyglutamine-induced neurodegeneration in a model of spinocerebellar ataxia. 61 57
15235598 2004
36
Regional differences of somatic CAG repeat instability do not account for selective neuronal vulnerability in a knock-in mouse model of SCA1. 61 57
12952864 2003
37
Interaction of Akt-phosphorylated ataxin-1 with 14-3-3 mediates neurodegeneration in spinocerebellar ataxia type 1. 25 61 54
12757707 2003
38
PQBP-1 transgenic mice show a late-onset motor neuron disease-like phenotype. 61 57
12651867 2003
39
Presymptomatic testing for autosomal dominant spinocerebellar ataxia type 1 in a French family. 57 61
11491315 2001
40
Mitotic and meiotic instability of the CAG trinucleotide repeat in spinocerebellar ataxia type 1. 57 61
9860298 1998
41
Ataxin-1 nuclear localization and aggregation: role in polyglutamine-induced disease in SCA1 transgenic mice. 57 61
9778246 1998
42
Proton magnetic resonance spectroscopy in an Italian family with spinocerebellar ataxia type 1. 54 25 61
9485066 1998
43
Transmission distortion of the mutant alleles in spinocerebellar ataxia. 61 57
9048937 1997
44
Autosomal dominant cerebellar ataxia type I clinical features and MRI in families with SCA1, SCA2 and SCA3. 61 57
8931575 1996
45
Toward understanding polyglutamine-induced neurological disease in spinocerebellar ataxia type 1. 61 57
9246491 1996
46
A novel CAG repeat configuration in the SCA1 gene: implications for the molecular diagnostics of spinocerebellar ataxia type 1. 61 54 25
8634720 1995
47
Spinocerebellar ataxia type 1 and Machado-Joseph disease: incidence of CAG expansions among adult-onset ataxia patients from 311 families with dominant, recessive, or sporadic ataxia. 57 61
7668288 1995
48
SCA1 transgenic mice: a model for neurodegeneration caused by an expanded CAG trinucleotide repeat. 57 61
7553854 1995
49
Spinocerebellar ataxia 1 (SCA1) in the Japanese in Hokkaido may derive from a single common ancestry. 57 61
7473647 1995
50
Gametic and somatic tissue-specific heterogeneity of the expanded SCA1 CAG repeat in spinocerebellar ataxia type 1. 25 54 61
7670474 1995

Variations for Spinocerebellar Ataxia 1

ClinVar genetic disease variations for Spinocerebellar Ataxia 1:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LOC108663993 NM_000332.3(ATXN1):c.589_591CAG(36_38) (p.Gln208_His209insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln) Microsatellite Pathogenic 8071 rs193922926 6:16327918-16327920 6:16327687-16327689
2 ATXN1 NM_001128164.2(ATXN1):c.1804G>T (p.Ala602Ser) SNV Uncertain significance 932128 6:16326738-16326738 6:16326507-16326507
3 LOC108663993 NM_000332.3(ATXN1):c.621G>T (p.Gln207His) SNV Likely benign 210502 rs201030692 6:16327921-16327921 6:16327690-16327690
4 LOC108663993 NM_001128164.2(ATXN1):c.609G>T (p.Gln203His) SNV Likely benign 931497 6:16327933-16327933 6:16327702-16327702
5 ATXN1 NM_000332.3(ATXN1):c.2150C>T (p.Ala717Val) SNV Likely benign 522259 rs41267702 6:16306858-16306858 6:16306627-16306627
6 LOC108663993 NM_000332.3(ATXN1):c.638_639insTCA (p.Gln213_Gln214insHis) Insertion Benign 522260 rs1554138045 6:16327903-16327904 6:16327672-16327673
7 LOC108663993 NM_000332.3(ATXN1):c.636_638GCA[16] (p.Gln224_Gln225dup) Microsatellite Benign 522332 rs751421308 6:16327864-16327865 6:16327633-16327634
8 LOC108663993 NM_001357857.2(ATXN1):c.*1_*3GCA[14] (p.Ter186=) Microsatellite Benign 218439 rs193922926 6:16327915-16327916 6:16327684-16327685

Expression for Spinocerebellar Ataxia 1

Search GEO for disease gene expression data for Spinocerebellar Ataxia 1.

Pathways for Spinocerebellar Ataxia 1

Pathways related to Spinocerebellar Ataxia 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.18 CACNA1A ATXN8OS ATXN3 ATXN1L ATXN1

GO Terms for Spinocerebellar Ataxia 1

Cellular components related to Spinocerebellar Ataxia 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.85 RBM17 HTT CHERP ATXN7 ATXN3 ATXN1L
2 nuclear inclusion body GO:0042405 8.96 ATXN3 ATXN1
3 nuclear matrix GO:0016363 8.92 ATXN7 ATXN3 ATXN1 ATN1

Sources for Spinocerebellar Ataxia 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....