MCID: SPN294
MIFTS: 58

Spinocerebellar Ataxia 1

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

Aliases & Classifications for Spinocerebellar Ataxia 1

MalaCards integrated aliases for Spinocerebellar Ataxia 1:

Name: Spinocerebellar Ataxia 1 57 53 75 29 13 6
Spinocerebellar Ataxia Type 1 12 24 53 25 59 55 15 73
Sca1 57 24 53 25 59 75
Olivopontocerebellar Atrophy I 57 25 75
Schut-Haymaker Type Opca 57 53 75
Menzel Type Opca 57 53 75
Opca1 57 53 75
Opca4 57 53 75
Cerebelloparenchymal Disorder I 57 75
Olivopontocerebellar Atrophy Iv 57 75
Olivopontocerebellar Atrophy 1 53 73
Spinocerebellar Atrophy I 57 25
Opca Iv 57 75
Opca I 57 75
Cpd1 57 75
Olivopontocerebellar Atrophy Iv; Opca4 57
Olivopontocerebellar Atrophy I; Opca1 57
Cerebelloparenchymal Disorder I; Cpd1 57
Cerebelloparenchymal Disorder 1 53
Ataxia, Spinocerebellar, Type 1 40
Olivopontocerebellar Atrophy 4 53
Type 1 Spinocerebellar Ataxia 25
Spinocerebellar Atrophy 1 53

Characteristics:

Orphanet epidemiological data:

59
spinocerebellar ataxia type 1
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Worldwide); Age of onset: All ages;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
genetic anticipation
onset in third or fourth decade
paternal anticipation bias


HPO:

32
spinocerebellar ataxia 1:
Onset and clinical course adult onset
Inheritance autosomal dominant inheritance genetic anticipation with paternal anticipation bias


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: 59  
Rare neurological 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)

MalaCards based summary : Spinocerebellar Ataxia 1, also known as spinocerebellar ataxia type 1, is related to spinocerebellar ataxia 2 and spinocerebellar ataxia 17, and has symptoms including muscle spasticity, abnormal pyramidal signs and abnormality of extrapyramidal motor function. An important gene associated with Spinocerebellar Ataxia 1 is ATXN1 (Ataxin 1). The drugs Benzocaine and Zinc have been mentioned in the context of this disorder. Affiliated tissues include eye, spinal cord and cerebellum, and related phenotypes are nystagmus and dysarthria

UniProtKB/Swiss-Prot : 75 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.

NIH Rare Diseases : 53 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.

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).

Wikipedia : 76 Spinocerebellar Ataxia type 1 (SCA1) is a rare autosomal dominant disorder, which, like other... more...

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, Autosomal Recessive 1
Spinocerebellar Ataxia 15 Spinocerebellar Ataxia 17
Spinocerebellar Ataxia, Autosomal Recessive 4 Spinocerebellar Ataxia 19
Spinocerebellar Ataxia 21 Spinocerebellar Ataxia 18
Spinocerebellar Ataxia, Autosomal Recessive 6 Spinocerebellar Ataxia 20
Spinocerebellar Ataxia 25 Spinocerebellar Ataxia 8
Spinocerebellar Ataxia, Autosomal Recessive 7 Spinocerebellar Ataxia 26
Spinocerebellar Ataxia 27 Spinocerebellar Ataxia 23
Spinocerebellar Ataxia 28 Spinocerebellar Ataxia, Autosomal Recessive 8
Spinocerebellar Ataxia 9 Spinocerebellar Ataxia 30
Spinocerebellar Ataxia, Autosomal Recessive 10 Spinocerebellar Ataxia 35
Spinocerebellar Ataxia 32 Spinocerebellar Ataxia 36
Spinocerebellar Ataxia, Autosomal Recessive 11 Spinocerebellar Ataxia, Autosomal Recessive 12
Spinocerebellar Ataxia, Autosomal Recessive 13 Spinocerebellar Ataxia, Autosomal Recessive 14
Spinocerebellar Ataxia, Autosomal Recessive 15 Spinocerebellar Ataxia, Autosomal Recessive 16
Spinocerebellar Ataxia 37 Spinocerebellar Ataxia 38
Spinocerebellar Ataxia 40 Spinocerebellar Ataxia, Autosomal Recessive 17
Spinocerebellar Ataxia, Autosomal Recessive 18 Spinocerebellar Ataxia, Autosomal Recessive 20
Spinocerebellar Ataxia 41 Spinocerebellar Ataxia, Autosomal Recessive 21
Spinocerebellar Ataxia 42 Spinocerebellar Ataxia, Autosomal Recessive 22
Spinocerebellar Ataxia, Autosomal Recessive 23 Spinocerebellar Ataxia 43
Spinocerebellar Ataxia, Autosomal Recessive 24 Spinocerebellar Ataxia, Autosomal Recessive 25
Spinocerebellar Ataxia, Autosomal Recessive 26 Spinocerebellar Ataxia 44
Spinocerebellar Ataxia 45 Spinocerebellar Ataxia 46
Spinocerebellar Ataxia 47 Spinocerebellar Ataxia Type 16
Spinocerebellar Ataxia Type 19/22 Grid2-Related Spinocerebellar Ataxia
Spinocerebellar Ataxia Autosomal Recessive 5

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

(show all 41)
# Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia 2 30.6 ATXN3 ATXN7 CACNA1A
2 spinocerebellar ataxia 17 30.1 ATN1 ATXN3 ATXN7 CACNA1A
3 aceruloplasminemia 28.7 ATXN1 ATXN3 ATXN7 CACNA1A
4 autosomal dominant cerebellar ataxia 27.0 ATN1 ATXN1 ATXN3 ATXN7 ATXN8OS CACNA1A
5 spinocerebellar ataxia type 1 with axonal neuropathy 12.0
6 spinocerebellar ataxia, autosomal recessive 14 11.0
7 spinocerebellar ataxia 29 10.8
8 spinocerebellar ataxia 34 10.8
9 spinocerebellar ataxia 7 10.8
10 mitochondrial dna depletion syndrome 7 10.8
11 spinocerebellar ataxia 5 10.8
12 spinocerebellar ataxia 10 10.8
13 spinocerebellar ataxia 15 10.8
14 spinocerebellar ataxia 21 10.8
15 spinocerebellar ataxia 20 10.8
16 spinocerebellar ataxia 23 10.8
17 spinocerebellar ataxia 32 10.8
18 spinocerebellar ataxia 36 10.8
19 spinocerebellar ataxia 37 10.8
20 spinocerebellar ataxia 38 10.8
21 spinocerebellar ataxia 42 10.8
22 spinocerebellar ataxia 43 10.8
23 spinocerebellar degeneration 10.3 ATXN1 ATXN3
24 neuronal intranuclear inclusion disease 9.9 ATXN1 ATXN3
25 multiple system atrophy 1 9.8
26 ataxia-oculomotor apraxia 3 9.8
27 essential tremor 9.8
28 tremor 9.8
29 huntington disease 9.8 ATN1 ATXN1 ATXN3 HTT
30 friedreich ataxia 1 9.7 ATXN1 ATXN3 ATXN8OS CACNA1A
31 central nervous system disease 9.7 ATXN3 CACNA1A HTT
32 nervous system disease 9.6 ATXN3 CACNA1A HTT
33 spinocerebellar ataxia 18 9.6 ATXN3 ATXN7 CACNA1A
34 spinocerebellar ataxia 6 9.6 ATXN3 ATXN7 CACNA1A
35 spinocerebellar ataxia 31 9.5 ATXN3 ATXN7 CACNA1A
36 cerebellar disease 9.4 ATXN3 ATXN7 CACNA1A
37 machado-joseph disease 9.1 ATN1 ATXN1 ATXN3 ATXN7 CACNA1A
38 hereditary ataxia 9.1 ATN1 ATXN1 ATXN3 ATXN7 CACNA1A
39 dentatorubral-pallidoluysian atrophy 9.1 ATN1 ATXN3 ATXN7 CACNA1A HTT
40 spinal and bulbar muscular atrophy, x-linked 1 9.0 AR ATXN1 ATXN3 ATXN7 HTT
41 spinocerebellar ataxia 12 8.8 ATN1 ATXN1 ATXN3 ATXN7 ATXN8OS CACNA1A

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



Diseases related to Spinocerebellar Ataxia 1

Symptoms & Phenotypes for Spinocerebellar Ataxia 1

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
spasticity
dysarthria
dysphagia
chorea
limb ataxia
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

Human phenotypes related to Spinocerebellar Ataxia 1:

59 32 (show top 50) (show all 66)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000639
2 dysarthria 59 32 frequent (33%) Frequent (79-30%) HP:0001260
3 dysphagia 59 32 frequent (33%) Frequent (79-30%) HP:0002015
4 chorea 59 32 frequent (33%) Frequent (79-30%) HP:0002072
5 optic atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000648
6 cognitive impairment 59 32 Frequent (79-30%) HP:0100543
7 skeletal muscle atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0003202
8 slurred speech 59 32 frequent (33%) Frequent (79-30%) HP:0001350
9 gait imbalance 59 32 occasional (7.5%) Occasional (29-5%) HP:0002141
10 impaired proprioception 59 32 occasional (7.5%) Occasional (29-5%) HP:0010831
11 dysmetria 59 32 occasional (7.5%) Occasional (29-5%) HP:0001310
12 dystonia 59 32 frequent (33%) Frequent (79-30%) HP:0001332
13 ophthalmoparesis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000597
14 memory impairment 59 32 frequent (33%) Frequent (79-30%) HP:0002354
15 respiratory failure 59 32 occasional (7.5%) Occasional (29-5%) HP:0002878
16 fasciculations 59 32 occasional (7.5%) Occasional (29-5%) HP:0002380
17 dysdiadochokinesis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002075
18 progressive cerebellar ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002073
19 hyporeflexia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001265
20 postural tremor 59 32 occasional (7.5%) Occasional (29-5%) HP:0002174
21 cerebellar atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0001272
22 bradykinesia 59 32 frequent (33%) Frequent (79-30%) HP:0002067
23 atrophy/degeneration affecting the brainstem 59 32 frequent (33%) Frequent (79-30%) HP:0007366
24 generalized hypotonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001290
25 abnormal nerve conduction velocity 59 32 frequent (33%) Frequent (79-30%) HP:0040129
26 slow saccadic eye movements 59 32 frequent (33%) Frequent (79-30%) HP:0000514
27 hyperactive deep tendon reflexes 59 32 occasional (7.5%) Occasional (29-5%) HP:0006801
28 loss of purkinje cells in the cerebellar vermis 59 32 frequent (33%) Frequent (79-30%) HP:0007001
29 inertia 59 32 frequent (33%) Frequent (79-30%) HP:0030216
30 abnormality of somatosensory evoked potentials 59 32 frequent (33%) Frequent (79-30%) HP:0007377
31 bulbar signs 59 32 frequent (33%) Frequent (79-30%) HP:0002483
32 upgaze palsy 59 32 frequent (33%) Frequent (79-30%) HP:0025331
33 hypermetric saccades 59 32 occasional (7.5%) Occasional (29-5%) HP:0007338
34 staring gaze 59 32 frequent (33%) Frequent (79-30%) HP:0025401
35 abnormal flash visual evoked potentials 59 32 frequent (33%) Frequent (79-30%) HP:0007928
36 abnormality of masticatory muscle 59 32 occasional (7.5%) Occasional (29-5%) HP:0410011
37 abnormality of eye movement 59 Frequent (79-30%)
38 muscular hypotonia 32 HP:0001252
39 spasticity 32 HP:0001257
40 gait disturbance 59 Frequent (79-30%)
41 hyperreflexia 32 HP:0001347
42 peripheral neuropathy 59 Very frequent (99-80%)
43 limb ataxia 32 HP:0002070
44 babinski sign 32 HP:0003487
45 urinary bladder sphincter dysfunction 32 HP:0002839
46 decreased motor nerve conduction velocity 32 very rare (1%) HP:0003431
47 areflexia 32 HP:0001284
48 abnormality of extrapyramidal motor function 32 HP:0002071
49 truncal ataxia 32 HP:0002078
50 abnormality of brainstem morphology 59 Occasional (29-5%)

UMLS symptoms related to Spinocerebellar Ataxia 1:


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

MGI Mouse Phenotypes related to Spinocerebellar Ataxia 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.65 HTT PVALB AR ATN1 ATXN1 ATXN1L
2 nervous system MP:0003631 9.32 AR ATN1 ATXN1 ATXN1L ATXN3 ATXN7

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
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
2
Zinc Approved, Investigational Phase 4 7440-66-6 23994
3 tannic acid Approved, Nutraceutical Phase 4
4 Hypoglycemic Agents Phase 4
5 insulin Phase 4
6 Insulin, Globin Zinc Phase 4
7 Insulin, Long-Acting Phase 4
8 Insulin, Short-Acting Phase 4
9
Glutamic Acid Approved, Nutraceutical Phase 3 56-86-0 33032
10 Antidepressive Agents Phase 1
11 Antimanic Agents Phase 1
12 Central Nervous System Depressants Phase 1
13 Lithium carbonate Phase 1 554-13-2
14 Psychotropic Drugs Phase 1
15 Tranquilizing Agents Phase 1
16
Dopamine Approved 51-61-6, 62-31-7 681
17
4-Aminopyridine Approved Not Applicable 504-24-5 1727
18 Dopamine Agents
19 Dopamine agonists
20 Potassium Channel Blockers Not Applicable

Interventional clinical trials:

(show all 18)
# Name Status NCT ID Phase Drugs
1 Tight Glycemic Control Increases Cardiac Stem Cells During Acute Myocardial Infarction Completed NCT00863629 Phase 4 Insulin
2 An Open Pilot Trial of BHV-4157 Active, not recruiting NCT03408080 Phase 3 BHV-4157
3 Trial in Adult Subjects With Spinocerebellar Ataxia Active, not recruiting NCT02960893 Phase 2, Phase 3 BHV-4157;Placebo Comparator
4 A New Method to Treat Hereditary Cerebellar Ataxia - Umbilical Cord Mesenchymal Stem Cells Transplantation Unknown status NCT01489267 Phase 2
5 Umbilical Cord Mesenchymal Stem Cells Therapy for Patients With Spinocerebellar Ataxia Not yet recruiting NCT03378414 Phase 2
6 Lithium Treatment for Patients With Spinocerebellar Ataxia Type I Completed NCT00683943 Phase 1 Lithium Carbonate
7 RISCA : Prospective Study of Individuals at Risk for SCA1, SCA2, SCA3, SCA6, SCA7 Unknown status NCT01037777
8 Biomarkers in Autosomal Dominant Cerebellar Ataxia Completed NCT01470729
9 Parkinsonism in Spinocerebellar Ataxia Type 6 Completed NCT01934998
10 Preliminary Study of the Scale To Assess Ataxia and Neurologic Dysfunction (STAND) Completed NCT02179333
11 Dalfampridine and Gait in Spinocerebellar Ataxias Completed NCT01811706 Not Applicable Dalfampridine;Placebo
12 The EUROSCA Natural History Study Recruiting NCT02440763
13 Natural History Study of and Genetic Modifiers in Spinocerebellar Ataxias Recruiting NCT01060371
14 NIPD on CFTC for Triplet Repeat Diseases Recruiting NCT03087526 Not Applicable
15 Hong Kong Spinocerebellar Ataxias Registry Recruiting NCT03336008
16 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
17 Rehabilitative Trial With Cerebello-Spinal tDCS in Neurodegenerative Ataxia Active, not recruiting NCT03120013 Not Applicable
18 Clinical Trial Readiness for SCA1 and SCA3 Not yet recruiting NCT03487367

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 1 29 ATXN1

Anatomical Context for Spinocerebellar Ataxia 1

MalaCards organs/tissues related to Spinocerebellar Ataxia 1:

41
Eye, Spinal Cord, Cerebellum, Brain, Skeletal Muscle, Testes, Globus Pallidus

Publications for Spinocerebellar Ataxia 1

Articles related to Spinocerebellar Ataxia 1:

(show top 50) (show all 129)
# Title Authors Year
1
Elevated Global DNA Methylation Is Not Exclusive to Amyotrophic Lateral Sclerosis and Is Also Observed in Spinocerebellar Ataxia Types 1 and 2. ( 29428949 )
2018
2
Heterotopic Purkinje Cells: a Comparative Postmortem Study of Essential Tremor and Spinocerebellar Ataxias 1, 2, 3, and 6. ( 28791574 )
2017
3
Ataxin-1 regulates the cerebellar bioenergetics proteome through the GSK3I^-mTOR pathway which is altered in Spinocerebellar ataxia type 1 (SCA1). ( 27466200 )
2016
4
Progressive impairment of cerebellar mGluR signalling and its therapeutic potential for cerebellar ataxia in spinocerebellar ataxia type 1 model mice. ( 27440721 )
2016
5
Vestibulo-ocular reflex dynamics withA head-impulses discriminates spinocerebellar ataxias types 1, 2 and 3 andA Friedreich ataxia. ( 27392837 )
2016
6
Brain Metabolic Changes of Cervical Dystonia with Spinocerebellar Ataxia Type 1 after Botulinum Toxin Therapy. ( 27432104 )
2016
7
Fusion of Human Fetal Mesenchymal Stem Cells with "Degenerating" Cerebellar Neurons in Spinocerebellar Ataxia Type 1 Model Mice. ( 27802273 )
2016
8
In vivo neurometabolic profiling in patients with spinocerebellar ataxia types 1, 2, 3, and 7. ( 25773989 )
2015
9
Long-term oral administration of the NMDA receptor antagonist memantine extends life span in spinocerebellar ataxia type 1 knock-in mice. ( 25725171 )
2015
10
Broad distribution of ataxin 1 silencing in rhesus cerebella for spinocerebellar ataxia type 1 therapy. ( 26490326 )
2015
11
Abnormalities in synaptic dynamics during development in a mouse model of spinocerebellar ataxia type 1. ( 26531852 )
2015
12
Long-term disease progression in spinocerebellar ataxia types 1, 2, 3, and 6: a longitudinal cohort study. ( 26377379 )
2015
13
Assessing recovery from neurodegeneration in spinocerebellar ataxia 1: Comparison of in vivo magnetic resonance spectroscopy with motor testing, gene expression and histology. ( 25446943 )
2015
14
Genetic characterization of Spinocerebellar ataxia 1 in a South Indian cohort. ( 25344417 )
2014
15
Multimodal evoked potentials in spinocerebellar ataxia types 1, 2, and 3. ( 25221404 )
2014
16
Decreased Expression of Glutamate Transporter GLAST in Bergmann Glia Is Associated with the Loss of Purkinje Neurons in the Spinocerebellar Ataxia Type 1. ( 25255716 )
2014
17
Maculopathy and spinocerebellar ataxia type 1: a new association? ( 23584155 )
2013
18
Bergmann glia are reduced in spinocerebellar ataxia type 1. ( 23778076 )
2013
19
Novel maculopathy in patients with spinocerebellar ataxia type 1 autofluorescence findings and functional characteristics. ( 23579607 )
2013
20
Metabolic Evidence for Cerebral Neurodegeneration in Spinocerebellar Ataxia Type 1. ( 24085647 )
2013
21
Clinical features, neurogenetics and neuropathology of the polyglutamine spinocerebellar ataxias type 1, 2, 3, 6 and 7. ( 23438480 )
2013
22
Longitudinal study of cognitive and psychiatric functions in spinocerebellar ataxia types 1 and 2. ( 24122064 )
2013
23
Mesenchymal Stem Cells Ameliorate Cerebellar Pathology in a Mouse Model of Spinocerebellar Ataxia Type 1. ( 24242763 )
2013
24
Non-invasive detection of neurochemical changes prior to overt pathology in a mouse model of spinocerebellar ataxia type 1. ( 24032423 )
2013
25
Biological and clinical characteristics of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 in the longitudinal RISCA study: analysis of baseline data. ( 23707147 )
2013
26
A novel function of Ataxin-1 in the modulation of PP2A activity is dysregulated in the spinocerebellar ataxia type 1. ( 23630944 )
2013
27
Spinal cord atrophy in spinocerebellar ataxia type 1. ( 24347021 )
2013
28
RNAi or overexpression: alternative therapies for Spinocerebellar Ataxia Type 1. ( 23583610 )
2013
29
Clinical characteristics of patients with spinocerebellar ataxias 1, 2, 3 and 6 in the US; a prospective observational study. ( 24225362 )
2013
30
Polyglutamine disease toxicity is regulated by Nemo-like kinase in spinocerebellar ataxia type 1. ( 23719801 )
2013
31
Deep Brain Stimulation of the Internal Globus Pallidus for Generalized Dystonia Associated with Spinocerebellar Ataxia Type 1: A Case Report. ( 23815390 )
2013
32
Assessing the efficacy of specific cerebellomodulatory drugs for use as therapy for spinocerebellar ataxia type 1. ( 22718440 )
2013
33
Pharmacological enhancement of mGlu1 metabotropic glutamate receptors causes a prolonged symptomatic benefit in a mouse model of spinocerebellar ataxia type 1. ( 24252411 )
2013
34
Broad Therapeutic Benefit After RNAi Expression Vector Delivery to Deep Cerebellar Nuclei: Implications for Spinocerebellar Ataxia Type 1 Therapy. ( 24419082 )
2013
35
LANP mediates neuritic pathology in Spinocerebellar ataxia type 1. ( 22884877 )
2012
36
Analysis of autosomal dominant spinocerebellar ataxia type 1 in an extended family of central India. ( 23716937 )
2012
37
Spinocerebellar ataxia type 1 (SCA1): new pathoanatomical and clinico-pathological insights. ( 22309224 )
2012
38
Electrophysiological evaluation of spinocerebellar ataxias 1, 2 and 3. ( 21880333 )
2012
39
Spinocerebellar ataxia types 1, 2, 3 and 6: the clinical spectrum of ataxia and morphometric brainstem and cerebellar findings. ( 21701895 )
2012
40
Spinocerebellar ataxia type 1. ( 21827903 )
2012
41
Functional Annotation of Small Noncoding RNAs Target Genes Provides Evidence for a Deregulated Ubiquitin-Proteasome Pathway in Spinocerebellar Ataxia Type 1. ( 23094141 )
2012
42
Aminopyridines correct early dysfunction and delay neurodegeneration in a mouse model of spinocerebellar ataxia type 1. ( 21849540 )
2011
43
Loss of intrinsic organization of cerebellar networks in spinocerebellar ataxia type 1: correlates with disease severity and duration. ( 20886327 )
2011
44
Vascular endothelial growth factor ameliorates the ataxic phenotype in a mouse model of spinocerebellar ataxia type 1. ( 22001907 )
2011
45
Temporal retinal nerve fiber loss in patients with spinocerebellar ataxia type 1. ( 21829579 )
2011
46
Rod-cone dystrophy in spinocerebellar ataxia type 1. ( 21746990 )
2011
47
Distinct neurochemical profiles of spinocerebellar ataxias 1, 2, 6, and cerebellar multiple system atrophy. ( 20838948 )
2011
48
Regional rescue of spinocerebellar ataxia type 1 phenotypes by 14-3-3epsilon haploinsufficiency in mice underscores complex pathogenicity in neurodegeneration. ( 21245341 )
2011
49
Partial loss of Tip60 slows mid-stage neurodegeneration in a spinocerebellar ataxia type 1 (SCA1) mouse model. ( 21427130 )
2011
50
The natural history of spinocerebellar ataxia type 1, 2, 3, and 6: a 2-year follow-up study. ( 21832228 )
2011

Variations for Spinocerebellar Ataxia 1

ClinVar genetic disease variations for Spinocerebellar Ataxia 1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ATXN1 NM_000332.3(ATXN1) NT expansion Pathogenic rs193922926 GRCh37 Chromosome 6, 16327918: 16327920
2 ATXN1 NM_000332.3(ATXN1) NT expansion Pathogenic rs193922926 GRCh38 Chromosome 6, 16327687: 16327689
3 ATXN1 NM_000332.3(ATXN1): c.624_626dupGCA (p.Gln208_His209insGln) duplication Benign/Likely benign rs864309555 GRCh37 Chromosome 6, 16327916: 16327918
4 ATXN1 NM_000332.3(ATXN1): c.624_626dupGCA (p.Gln208_His209insGln) duplication Benign/Likely benign rs864309555 GRCh38 Chromosome 6, 16327685: 16327687
5 ATXN1 NM_000332.3(ATXN1): c.2150C> T (p.Ala717Val) single nucleotide variant Likely benign rs41267702 GRCh38 Chromosome 6, 16306627: 16306627
6 ATXN1 NM_000332.3(ATXN1): c.2150C> T (p.Ala717Val) single nucleotide variant Likely benign rs41267702 GRCh37 Chromosome 6, 16306858: 16306858
7 ATXN1 NM_000332.3(ATXN1): c.638_639insTCA (p.Gln212_Gln213insHis) insertion Benign rs780549091 GRCh37 Chromosome 6, 16327903: 16327904
8 ATXN1 NM_000332.3(ATXN1): c.638_639insTCA (p.Gln212_Gln213insHis) insertion Benign rs780549091 GRCh38 Chromosome 6, 16327672: 16327673
9 ATXN1 NM_000332.3(ATXN1): c.672_677dup (p.Gln225_His226insGlnGln) duplication Benign GRCh37 Chromosome 6, 16327865: 16327870
10 ATXN1 NM_000332.3(ATXN1): c.672_677dup (p.Gln225_His226insGlnGln) duplication Benign GRCh38 Chromosome 6, 16327634: 16327639

Expression for Spinocerebellar Ataxia 1

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

Pathways for Spinocerebellar Ataxia 1

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 9.65 ANP32A AR ATN1 ATXN1 ATXN1L ATXN3
2 nuclear inclusion body GO:0042405 9.16 ATXN1 ATXN3
3 nuclear matrix GO:0016363 8.92 ATN1 ATXN1 ATXN3 ATXN7

Biological processes related to Spinocerebellar Ataxia 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 9.92 ANP32A AR ATN1 ATXN1 ATXN1L ATXN3
2 transcription, DNA-templated GO:0006351 9.86 ANP32A AR ATN1 ATXN1 ATXN1L ATXN3
3 negative regulation of extrinsic apoptotic signaling pathway GO:2001237 9.4 AR HTT
4 lung alveolus development GO:0048286 9.37 ATXN1L CIC
5 memory GO:0007613 9.33 ATXN1 ATXN1L CIC
6 learning GO:0007612 9.13 ATXN1 ATXN1L CIC
7 social behavior GO:0035176 8.8 ATXN1 ATXN1L CIC

Sources for Spinocerebellar Ataxia 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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