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 56 52 73 13
Spinocerebellar Ataxia Type 1 12 24 52 25 58 29 54 6 15 71
Sca1 56 24 52 25 58 73
Olivopontocerebellar Atrophy I 56 25 73
Schut-Haymaker Type Opca 56 52 73
Menzel Type Opca 56 52 73
Opca1 56 52 73
Opca4 56 52 73
Cerebelloparenchymal Disorder I 56 73
Olivopontocerebellar Atrophy Iv 56 73
Olivopontocerebellar Atrophy 1 52 71
Spinocerebellar Atrophy I 56 25
Opca Iv 56 73
Opca I 56 73
Cpd1 56 73
Olivopontocerebellar Atrophy Iv; Opca4 56
Olivopontocerebellar Atrophy I; Opca1 56
Cerebelloparenchymal Disorder I; Cpd1 56
Cerebelloparenchymal Disorder 1 52
Ataxia, Spinocerebellar, Type 1 39
Olivopontocerebellar Atrophy 4 52
Type 1 Spinocerebellar Ataxia 25
Spinocerebellar Atrophy 1 52

Characteristics:

Orphanet epidemiological data:

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

OMIM:

56
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:

24
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 : 56 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)

MalaCards based summary : Spinocerebellar Ataxia 1, also known as spinocerebellar ataxia type 1, is related to spinocerebellar ataxia 2 and spinocerebellar ataxia 7, 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 Riluzole and Excitatory Amino Acid Antagonists have been mentioned in the context of this disorder. Affiliated tissues include eye, cerebellum and spinal cord, and related phenotypes are progressive cerebellar ataxia and dysphagia

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.

Genetics Home Reference : 25 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.

NIH Rare Diseases : 52 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 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 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 167)
# Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia 2 32.7 HTT CACNA1A ATXN8OS ATXN7 ATXN3
2 spinocerebellar ataxia 7 32.3 MIR9-1 CHERP ATXN8OS ATXN7 ATXN3 ATXN1
3 spinocerebellar ataxia 10 32.2 ATXN8OS ATXN7 ATXN3
4 spinocerebellar ataxia 17 32.0 CACNA1A ATXN7 ATXN3 ATXN1 ATN1
5 autosomal dominant cerebellar ataxia type i 31.3 LOC108663993 ATXN3
6 spinocerebellar ataxia 4 31.1 ATXN7 ATXN3 ATXN1
7 restless legs syndrome 30.6 LOC108663993 CACNA1A ATXN7 ATXN3 ATXN1
8 choreatic disease 30.5 MIR9-1 HTT ATXN7
9 movement disease 30.5 MIR9-1 HTT CACNA1A
10 primary cerebellar degeneration 30.5 CHERP CACNA1A ATXN3 ATXN1 ANP32A
11 spinocerebellar ataxia 6 30.4 CACNA1A ATXN8OS ATXN7 ATXN1
12 friedreich ataxia 30.3 CACNA1A ATXN8OS ATXN3 ATXN1
13 machado-joseph disease 30.3 HTT CHERP CACNA1A ATXN8OS ATXN7 ATXN3
14 cerebellar disease 30.3 CACNA1A ATXN7 ATXN3 ATXN1
15 hereditary ataxia 30.2 CACNA1A ATXN8OS ATXN7 ATXN3 ATXN1 ATN1
16 huntington disease 30.2 HTT CHERP ATXN7 ATXN3 ATXN1 ATN1
17 dystonia 30.0 PVALB HTT CACNA1A ATXN7 ATXN3 ATXN1
18 dentatorubral-pallidoluysian atrophy 29.9 PVALB HTT CACNA1A ATXN7 ATXN3 ATXN1
19 amyotrophic lateral sclerosis 1 29.8 UBQLN4 PVALB MIR9-1 MIR144 HTT ATXN7
20 parkinson disease, late-onset 29.8 PVALB MIR9-1 HTT CACNA1A ATXN8OS ATXN7
21 autosomal dominant cerebellar ataxia 29.7 RBM17 MIR9-1 LOC108663993 HTT CACNA1A BLOC1S1
22 spinocerebellar ataxia type 1 with axonal neuropathy 12.4
23 spinocerebellar ataxia 37 11.4
24 spinocerebellar ataxia, autosomal recessive 14 11.3
25 spinocerebellar ataxia, x-linked 1 11.3
26 spinocerebellar ataxia 29 11.1
27 spinocerebellar ataxia 34 11.1
28 mitochondrial dna depletion syndrome 7 11.1
29 spinocerebellar ataxia 5 11.1
30 spinocerebellar ataxia 15 11.1
31 spinocerebellar ataxia 21 11.1
32 spinocerebellar ataxia 20 11.1
33 spinocerebellar ataxia 23 11.1
34 spinocerebellar ataxia 32 11.1
35 spinocerebellar ataxia 36 11.1
36 spinocerebellar ataxia 38 11.1
37 spinocerebellar ataxia 42 11.1
38 spinocerebellar ataxia 43 11.1
39 ataxia and polyneuropathy, adult-onset 10.6
40 polydactyly, preaxial i 10.4
41 cerebellar ataxia type 9 10.4 CACNA1A ATXN7
42 cerebellar ataxia type 42 10.4 CACNA1A ATXN7
43 spinocerebellar ataxia 30 10.4 CACNA1A ATXN7 ATXN1
44 mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance 10.4 CACNA1A ATXN7 ATXN3
45 prion disease 10.3 MIR9-1 MIR144 HTT
46 spinocerebellar ataxia 8 10.3 HTT ATXN8OS ATXN7 ATXN1
47 3-methylglutaconic aciduria, type iii 10.3
48 episodic ataxia, type 6 10.3 CACNA1A ATXN7
49 neuronal intranuclear inclusion disease 10.3 ATXN3 ATXN1
50 huntington disease-like 2 10.3 HTT ATXN8OS ATXN7 ATXN3

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 dysphagia 58 31 frequent (33%) Frequent (79-30%) HP:0002015
3 slurred speech 58 31 frequent (33%) Frequent (79-30%) HP:0001350
4 memory impairment 58 31 frequent (33%) Frequent (79-30%) HP:0002354
5 bulbar signs 58 31 frequent (33%) Frequent (79-30%) HP:0002483
6 dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0001260
7 dystonia 58 31 frequent (33%) Frequent (79-30%) HP:0001332
8 chorea 58 31 frequent (33%) Frequent (79-30%) HP:0002072
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 optic atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000648
21 skeletal muscle atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003202
22 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
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 muscular hypotonia 31 HP:0001252
41 gait disturbance 58 Frequent (79-30%)
42 spasticity 31 HP:0001257
43 peripheral neuropathy 58 Very frequent (99-80%)
44 hyperreflexia 31 HP:0001347
45 abnormality of eye movement 58 Frequent (79-30%)
46 areflexia 31 HP:0001284
47 abnormality of extrapyramidal motor function 31 HP:0002071
48 impaired vibratory sensation 31 HP:0002495
49 babinski sign 31 HP:0003487
50 distal amyotrophy 31 HP:0003693

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
optic atrophy
supranuclear ophthalmoplegia
dysmetric saccades
gaze-evoked nystagmus
impaired horizontal smooth pursuit
more
Abdomen Gastrointestinal:
dysphagia

Genitourinary Bladder:
sphincter disturbances

Neurologic Central Nervous System:
spasticity
dysphagia
dysarthria
dysmetria
dysdiadochokinesis
more
Neurologic Peripheral Nervous System:
peripheral neuropathy
decreased vibration sense
distal muscle atrophy

Clinical features from OMIM:

164400

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):

(show all 20)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Riluzole Approved, Investigational Phase 3 1744-22-5 5070
2 Excitatory Amino Acid Antagonists Phase 3
3 Neuroprotective Agents Phase 3
4 Anticonvulsants Phase 3
5 Protective Agents Phase 3
6 Neurotransmitter Agents Phase 3
7 interferons Phase 2
8 Antiviral Agents Phase 2
9 Pharmaceutical Solutions Phase 2
10 Interferon-gamma Phase 2
11 Anti-Infective Agents Phase 2
12
Lithium carbonate Approved Phase 1 554-13-2
13 Antidepressive Agents Phase 1
14 Psychotropic Drugs Phase 1
15
Dopamine Approved 51-61-6, 62-31-7 681
16
Nicotinamide Approved, Investigational 98-92-0 936
17
Niacin Approved, Investigational, Nutraceutical 59-67-6 938
18 Dopamine agonists
19 Nicotinic Acids
20 Vitamin B3

Interventional clinical trials:

(show all 17)
# 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 A Clinical Research on the Safety/Efficacy of Umbilical Cord Mesenchymal Stem Cells Therapy for Patients With Spinocerebellar Ataxia Unknown status NCT03378414 Phase 2
3 The Safety and Efficacy of Umbilical Cord Mesenchymal Stem Cells Transplantation in Hereditary Cerebellar Ataxia Patients Unknown status NCT01489267 Phase 2
4 Safety and Efficacy of γIFN Treatment in Friedreich Ataxia Completed NCT03888664 Phase 2 gamma interferon
5 Pilot Study of Tolerability of Lithium Therapy in Patients With Spinocerebellar Ataxia Type I (SCA1) Completed NCT00683943 Phase 1 Lithium Carbonate
6 Non Invasive Prenatal Diagnosis on Isolated Circulating Fetal Trophoblastic Cells (CFTC) for Triplet Repeat Diseases Unknown status NCT03087526
7 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
8 Identification of Biomarkers in Patients With Autosomal Dominant Cerebellar Ataxia Completed NCT01470729
9 Dysmetria in Motor Function in SCA: Mechanisms and Rehabilitation Completed NCT02488031
10 Characterization of the Parkinsonism and Other Non-ataxia Spectrum and Striatal Dopaminergic Degeneration in Spinocerebellar Ataxia Type 6 Completed NCT01934998
11 A Positional Cloning Study on Schizophrenia Completed NCT00155649
12 Molecular Genetic Study of Schizophrenia: Parent-Offspring Trios Completed NCT00155506
13 Clinical Trial Readiness for SCA1 and SCA3 Recruiting NCT03487367
14 APDM Instrumented Data Exchange for Ataxia (IDEA) Study Recruiting NCT04268147
15 Clinical Research Consortium for Spinocerebellar Ataxias (CRC-SCA) to Study Natural History Study of and Genetic Modifiers in Spinocerebellar Ataxias (SCA) Recruiting NCT01060371
16 The EUROSCA Natural History Study Recruiting NCT02440763
17 Hong Kong Spinocerebellar Ataxias Registry Recruiting NCT03336008

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, Cerebellum, Spinal Cord, Brain, Testes, Skeletal Muscle, T Cells

Publications for Spinocerebellar Ataxia 1

Articles related to Spinocerebellar Ataxia 1:

(show top 50) (show all 618)
# Title Authors PMID Year
1
Spinocerebellar ataxia type 1 (SCA1): phenotype-genotype correlation studies in intermediate alleles. 24 56 6 54 61
11973625 2002
2
Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. 61 24 56 6
8358429 1993
3
The effect of CAT trinucleotide interruptions on the age at onset of spinocerebellar ataxia type 1 (SCA1). 61 54 24 56
10424816 1999
4
Unstable triplet repeat and phenotypic variability of spinocerebellar ataxia type 1. 61 54 24 56
8619528 1996
5
Identification and characterization of the gene causing type 1 spinocerebellar ataxia. 56 6 61
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. 24 56 54 61
8111382 1993
7
Vascular endothelial growth factor ameliorates the ataxic phenotype in a mouse model of spinocerebellar ataxia type 1. 61 24 56
22001907 2011
8
Insights into the mutational history and prevalence of SCA1 in the Indian population through anchored polymorphisms. 56 24 61
16133185 2005
9
Serine 776 of ataxin-1 is critical for polyglutamine-induced disease in SCA1 transgenic mice. 61 24 56
12741986 2003
10
Over-expression of inducible HSP70 chaperone suppresses neuropathology and improves motor function in SCA1 mice. 61 24 56
11448943 2001
11
Autosomal dominant cerebellar ataxia type I: oculomotor abnormalities in families with SCA1, SCA2, and SCA3. 61 56 24
10525976 1999
12
Expression analysis of the ataxin-1 protein in tissues from normal and spinocerebellar ataxia type 1 individuals. 56 24 61
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. 56 24 61
7824128 1995
14
Spinocerebellar ataxia types 1, 2, 3, and 6: disease severity and nonataxia symptoms. 24 56
18685131 2008
15
Opposing effects of polyglutamine expansion on native protein complexes contribute to SCA1. 54 56 61
18337722 2008
16
Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis. 24 56
15099544 2004
17
Peripheral nerve involvement in spinocerebellar ataxias. 56 24
14967775 2004
18
Spinocerebellar ataxia type 1 in China: molecular analysis and genotype-phenotype correlation in 5 families. 56 54 61
11346374 2001
19
Repeat instability and motor incoordination in mice with a targeted expanded CAG repeat in the Sca1 locus. 54 61 56
10749985 2000
20
Chaperone suppression of aggregation and altered subcellular proteasome localization imply protein misfolding in SCA1. 54 61 56
9620770 1998
21
Autosomal dominant cerebellar ataxia: phenotypic differences in genetically defined subtypes? 56 24
9403486 1997
22
Cloning and developmental expression analysis of the murine homolog of the spinocerebellar ataxia type 1 gene (Sca1). 56 61 54
8789437 1996
23
Molecular and clinical correlations in spinocerebellar ataxia type I: evidence for familial effects on the age at onset. 54 56 61
8037204 1994
24
Effect of trinucleotide repeat length and parental sex on phenotypic variation in spinocerebellar ataxia I. 56 24
8198139 1994
25
Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I. 56 24
8275090 1993
26
Spinocerebellar ataxia: variable age of onset and linkage to human leukocyte antigen in a large kindred. 56 24
3165612 1988
27
Spinocerebellar ataxia: study of a large kindred. I. General information and genetics. 24 56
4673259 1972
28
Exercise and genetic rescue of SCA1 via the transcriptional repressor Capicua. 61 56
22053053 2011
29
The insulin-like growth factor pathway is altered in spinocerebellar ataxia type 1 and type 7. 56 61
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". 54 61 24
18301861 2008
31
ATAXIN-1 interacts with the repressor Capicua in its native complex to cause SCA1 neuropathology. 56 61
17190598 2006
32
RORalpha-mediated Purkinje cell development determines disease severity in adult SCA1 mice. 61 56
17110330 2006
33
Proteasome function is inhibited by polyglutamine-expanded ataxin-1, the SCA1 gene product. 61 54 24
15750336 2005
34
Damage to the reticulotegmental nucleus of the pons in spinocerebellar ataxia type 1, 2, and 3. 61 56
15477548 2004
35
RNAi suppresses polyglutamine-induced neurodegeneration in a model of spinocerebellar ataxia. 61 56
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. 56 61
12952864 2003
37
Interaction of Akt-phosphorylated ataxin-1 with 14-3-3 mediates neurodegeneration in spinocerebellar ataxia type 1. 54 61 24
12757707 2003
38
PQBP-1 transgenic mice show a late-onset motor neuron disease-like phenotype. 61 56
12651867 2003
39
Presymptomatic testing for autosomal dominant spinocerebellar ataxia type 1 in a French family. 61 56
11491315 2001
40
Mitotic and meiotic instability of the CAG trinucleotide repeat in spinocerebellar ataxia type 1. 56 61
9860298 1998
41
Ataxin-1 nuclear localization and aggregation: role in polyglutamine-induced disease in SCA1 transgenic mice. 61 56
9778246 1998
42
Spinocerebellar Ataxia Type 1 6 61
20301363 1998
43
Proton magnetic resonance spectroscopy in an Italian family with spinocerebellar ataxia type 1. 54 61 24
9485066 1998
44
Transmission distortion of the mutant alleles in spinocerebellar ataxia. 61 56
9048937 1997
45
Autosomal dominant cerebellar ataxia type I clinical features and MRI in families with SCA1, SCA2 and SCA3. 61 56
8931575 1996
46
Toward understanding polyglutamine-induced neurological disease in spinocerebellar ataxia type 1. 56 61
9246491 1996
47
A novel CAG repeat configuration in the SCA1 gene: implications for the molecular diagnostics of spinocerebellar ataxia type 1. 61 24 54
8634720 1995
48
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. 56 61
7668288 1995
49
SCA1 transgenic mice: a model for neurodegeneration caused by an expanded CAG trinucleotide repeat. 61 56
7553854 1995
50
Spinocerebellar ataxia 1 (SCA1) in the Japanese in Hokkaido may derive from a single common ancestry. 56 61
7473647 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 ATXN1 NM_000332.3(ATXN1):c.589_591CAG(36_38) (p.Gln208_His209insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln)NT expansion Pathogenic 8071 rs193922926 6:16327918-16327920 6:16327687-16327689
2 ATXN1 NM_000332.3(ATXN1):c.2150C>T (p.Ala717Val)SNV Likely benign 522259 rs41267702 6:16306858-16306858 6:16306627-16306627
3 ATXN1 NM_001357857.2(ATXN1):c.*1_*3GCA[14] (p.Ter186=)short repeat Benign/Likely benign 218439 rs193922926 6:16327915-16327916 6:16327684-16327685
4 ATXN1 NM_000332.3(ATXN1):c.638_639insTCA (p.Gln213_Gln214insHis)insertion Benign 522260 rs1554138045 6:16327903-16327904 6:16327672-16327673
5 ATXN1 NM_000332.3(ATXN1):c.636_638GCA[16] (p.Gln224_Gln225dup)short repeat Benign 522332 rs751421308 6:16327864-16327865 6:16327633-16327634

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 11.15 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 9.7 UBQLN4 RBM17 HTT CHERP ATXN7 ATXN3
2 perinuclear region of cytoplasm GO:0048471 9.65 UBQLN4 HTT CHERP ATN1 ANP32A
3 nuclear inclusion body GO:0042405 9.16 ATXN3 ATXN1
4 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
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
36 KEGG
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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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