SCA2
MCID: SPN301
MIFTS: 59

Spinocerebellar Ataxia 2 (SCA2)

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 2

MalaCards integrated aliases for Spinocerebellar Ataxia 2:

Name: Spinocerebellar Ataxia 2 57 20 72 13
Spinocerebellar Ataxia Type 2 12 25 20 43 58 29 54 6 15 70
Amyotrophic Lateral Sclerosis 13 57 12 72 29 6
Sca2 57 25 43 58 72
Spinocerebellar Degeneration with Slow Eye Movements 57 20 72
Sdsem 57 20 72
Cerebellar Degeneration with Slow Eye Movements 57 72
Olivopontocerebellar Atrophy Holguin Type 20 72
Amyotrophic Lateral Sclerosis Type 13 12 15
Spinocerebellar Ataxia Cuban Type 20 72
Olivopontocerebellar Atrophy Ii 57 72
Spinocerebellar Atrophy Ii 57 72
Wadia-Swami Syndrome 57 72
Opca2 57 72
Als13 12 72
Spinocerebellar Degeneration with Slow Eye Movements; Sdsem 57
Amyotrophic Lateral Sclerosis, Susceptibility to, 13 57
Spinocerebellar Ataxia with Slow Eye Movements 20
Olivopontocerebellar Atrophy, Holguin Type 57
Olivopontocerebellar Atrophy Ii; Opca2 57
Spinocerebellar Ataxia, Cuban Type 57
Ataxia, Spinocerebellar, Type 2 39
Olivopontocerebellar Atrophy 2 20
Spinocerebellar Atrophy 2 20
Wadia Swami Syndrome 20
Opca Ii 72
Sca 2 20

Characteristics:

Orphanet epidemiological data:

58
spinocerebellar ataxia type 2
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Worldwide); Age of onset: All ages;

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
genetic anticipation
mean age of onset in third decade
rarely reported in infants
extreme phenotypic variability
may manifest as 'ataxic' phenotype without parkinsonian features
may manifest as late-onset 'parkinsonian' phenotype without severe ataxic features
high prevalence in holguin province of cuba

Inheritance:
autosomal dominant


HPO:

31
spinocerebellar ataxia 2:
Inheritance autosomal dominant inheritance genetic anticipation

spinocerebellar degeneration with slow eye movements:
Inheritance autosomal recessive inheritance


GeneReviews:

25
Penetrance See establishing the diagnosis, allele sizes and genotype-phenotype correlations.

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases


Summaries for Spinocerebellar Ataxia 2

UniProtKB/Swiss-Prot : 72 Amyotrophic lateral sclerosis 13: A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases.
Spinocerebellar ataxia 2: 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. SCA2 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. SCA2 is characterized by hyporeflexia, myoclonus and action tremor and dopamine-responsive parkinsonism. In some patients, SCA2 presents as pure familial parkinsonism without cerebellar signs.

MalaCards based summary : Spinocerebellar Ataxia 2, also known as spinocerebellar ataxia type 2, is related to spinocerebellar ataxia 6 and olivopontocerebellar atrophy, and has symptoms including myoclonus, ophthalmoplegia and dysdiadochokinesis. An important gene associated with Spinocerebellar Ataxia 2 is ATXN2 (Ataxin 2), and among its related pathways/superpathways are Pathways of neurodegeneration - multiple diseases and Spinocerebellar ataxia. The drugs Riluzole and Excitatory Amino Acid Antagonists 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 abnormal substantia nigra morphology

Disease Ontology : 12 An autosomal dominant cerebellar ataxia that is characterized by ataxia, bulbar palsy, peripheral neuropathy chorea and muscle atrophy, has material basis in mutation in the ATXN2 gene.

MedlinePlus Genetics : 43 Spinocerebellar ataxia type 2 (SCA2) is a condition characterized by progressive problems with movement. People with this condition initially experience problems with coordination and balance (ataxia). Other early signs and symptoms of SCA2 include additional movement problems, speech and swallowing difficulties, and weakness in the muscles that control eye movement (ophthalmoplegia). Eye muscle weakness leads to involuntary back-and-forth eye movements (nystagmus) and a decreased ability to make rapid eye movements (saccadic slowing).Over time, individuals with SCA2 may develop loss of sensation and weakness in the limbs (peripheral neuropathy), muscle wasting (atrophy), uncontrolled muscle tensing (dystonia), and involuntary jerking movements (chorea). Some people with SCA2 develop a group of movement abnormalities known as parkinsonism, which includes unusually slow movement (bradykinesia), involuntary trembling (tremor), and muscle stiffness (rigidity). Individuals with SCA2 may have problems with short term memory, planning, and problem solving, or experience an overall decline in intellectual function (dementia).Signs and symptoms of the disorder typically begin in mid-adulthood but can appear anytime from childhood to late adulthood. People with SCA2 usually survive 10 to 20 years after symptoms first appear.

GARD : 20 Spinocerebellar ataxia 2 (SCA2) is a progressive disorder that causes symptoms including uncoordinated movement (ataxia), speech and swallowing difficulties, muscle wasting, slow eye movement, and sometimes dementia. Signs and symptoms usually begin in mid-adulthood but can appear any time from childhood to late-adulthood. SCA2 is caused by mutations in the ATXN2 gene and is inherited in an autosomal dominant manner.

OMIM® : 57 Autosomal dominant cerebellar ataxias (ADCAs) are a heterogeneous group of disorders that were classified clinically by Harding (1983). Progressive cerebellar ataxia is the primary feature. In ADCA I, cerebellar ataxia of gait and limbs is invariably associated with supranuclear ophthalmoplegia, pyramidal or extrapyramidal signs, mild dementia, and peripheral neuropathy. In ADCA II, macular and retinal degeneration are added to the features. ADCA III is a pure form of late-onset cerebellar ataxia. ADCA I includes SCA1 (164400), SCA2, and SCA3, or Machado-Joseph disease (109150). These 3 are characterized at the molecular level by CAG repeat expansions on 6p24-p23, 12q24.1, and 14q32.1, respectively. For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400). (183090) (Updated 05-Apr-2021)

GeneReviews: NBK1275

Related Diseases for Spinocerebellar Ataxia 2

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 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 192)
# Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia 6 30.6 CACNA1A ATXN7 ATXN3 ATXN2
2 olivopontocerebellar atrophy 30.3 CACNA1A ATXN7 ATXN2
3 hereditary ataxia 30.2 SETX CACNA1A ATXN7 ATXN3 ATXN2
4 spinocerebellar degeneration 30.2 ATXN3 ATXN2
5 spinocerebellar ataxia 7 30.1 ATXN7 ATXN3 ATXN2
6 spinocerebellar ataxia 17 29.9 CACNA1A ATXN7 ATXN3 ATXN2
7 choreatic disease 29.9 SETX HTT CACNA1A C9orf72 ATXN7 ATXN3
8 dentatorubral-pallidoluysian atrophy 29.8 SETX HTT FUS CACNA1A C9orf72 ATXN7
9 huntington disease 29.8 TARDBP SOD1 HTT C9orf72 ATXN7 ATXN3
10 supranuclear palsy, progressive, 1 29.7 TARDBP SOD1 HTT FUS C9orf72 ATXN2
11 muscular atrophy 29.7 VAPB TARDBP SETX HTT HNRNPA1 FUS
12 autosomal dominant cerebellar ataxia 29.7 UBQLN2 TARDBP SOD1 SETX RBFOX1 HTT
13 machado-joseph disease 29.7 TARDBP HTT CACNA1A ATXN7 ATXN3 ATXN2
14 spinocerebellar ataxia 1 29.6 UBQLN2 HTT CACNA1A ATXN7 ATXN3 ATXN2
15 friedreich ataxia 29.6 SOD1 SETX CACNA1A ATXN3 ATXN2
16 huntington disease-like 2 29.6 HTT CACNA1A C9orf72 ATXN7 ATXN3
17 movement disease 29.5 TARDBP HTT FUS CACNA1A C9orf72 ATXN3
18 parkinson disease, late-onset 29.5 SOD1 HTT CACNA1A ATXN7 ATXN3 ATXN2
19 dystonia 29.3 SETX HTT FUS CACNA1A C9orf72 ATXN7
20 cerebellar disease 29.1 SOD1 SETX HTT FUS CACNA1A C9orf72
21 lateral sclerosis 28.7 VAPB UBQLN2 TARDBP SOD1 SETX MATR3
22 motor neuron disease 28.6 VAPB UBQLN2 TARDBP SOD1 SETX HTT
23 amyotrophic lateral sclerosis 1 27.7 VAPB UBQLN2 TARDBP SOD1 SETX MATR3
24 spinocerebellar ataxia, autosomal recessive 2 11.4
25 spinocerebellar ataxia, x-linked 2 11.3
26 olivopontocerebellar atrophy ii, autosomal recessive 11.3
27 ataxia and polyneuropathy, adult-onset 10.7
28 distal hereditary motor neuronopathy type 7 10.3 TARDBP ALS2
29 agraphia 10.3 TARDBP C9orf72
30 spinal muscular atrophy with lower extremity predominance 10.3 VAPB SETX
31 semantic dementia 10.3 TARDBP C9orf72
32 prosopagnosia 10.3 TARDBP C9orf72
33 associative agnosia 10.3 TARDBP FUS C9orf72
34 amyotrophic lateral sclerosis type 22 10.3 TARDBP FUS C9orf72
35 ideomotor apraxia 10.2 TARDBP FUS C9orf72
36 abducens palsy 10.2
37 spinocerebellar ataxia 31 10.2 CACNA1A C9orf72
38 nominal aphasia 10.2 TARDBP FUS C9orf72
39 aphasia 10.2 TARDBP FUS C9orf72
40 pica disease 10.2 TARDBP FUS C9orf72
41 dysgraphia 10.2 TARDBP FUS C9orf72
42 writing disorder 10.2 TARDBP FUS C9orf72
43 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 10.2 TARDBP FUS C9orf72
44 juvenile amyotrophic lateral sclerosis 10.2 SETX FUS ALS2
45 neuronopathy, distal hereditary motor, type viib 10.2 TARDBP ALS2
46 amyotrophic lateral sclerosis 7 10.2 VAPB SETX ALS2
47 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 10.2 TARDBP FUS
48 frontotemporal dementia and/or amyotrophic lateral sclerosis 2 10.2 MATR3 FUS C9orf72
49 nevus of ota 10.2
50 episodic ataxia, type 2 10.2 KCNN3 CACNA1A ATXN7

Graphical network of the top 20 diseases related to Spinocerebellar Ataxia 2:



Diseases related to Spinocerebellar Ataxia 2

Symptoms & Phenotypes for Spinocerebellar Ataxia 2

Human phenotypes related to Spinocerebellar Ataxia 2:

58 31 (show top 50) (show all 57)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 progressive cerebellar ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002073
2 abnormal substantia nigra morphology 31 hallmark (90%) HP:0045007
3 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
4 dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0001260
5 chorea 58 31 frequent (33%) Frequent (79-30%) HP:0002072
6 dystonia 58 31 frequent (33%) Frequent (79-30%) HP:0001332
7 fasciculations 58 31 frequent (33%) Frequent (79-30%) HP:0002380
8 hyporeflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001265
9 gait ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002066
10 spinal cord posterior columns myelin loss 58 31 frequent (33%) Frequent (79-30%) HP:0008311
11 dementia 58 31 frequent (33%) Frequent (79-30%) HP:0000726
12 generalized hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001290
13 muscle spasm 58 31 frequent (33%) Frequent (79-30%) HP:0003394
14 supranuclear ophthalmoplegia 58 31 frequent (33%) Frequent (79-30%) HP:0000623
15 slow saccadic eye movements 58 31 frequent (33%) Frequent (79-30%) HP:0000514
16 postural tremor 58 31 frequent (33%) Frequent (79-30%) HP:0002174
17 cerebellar purkinje layer atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0012082
18 abnormal cell morphology 58 31 frequent (33%) Frequent (79-30%) HP:0025461
19 kinetic tremor 58 31 frequent (33%) Frequent (79-30%) HP:0030186
20 abnormality of the spinocerebellar tracts 58 31 frequent (33%) Frequent (79-30%) HP:0003133
21 olivopontocerebellar hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0006955
22 cerebral cortical atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002120
23 abnormal cortical gyration 58 31 occasional (7.5%) Occasional (29-5%) HP:0002536
24 hyperactive deep tendon reflexes 58 31 occasional (7.5%) Occasional (29-5%) HP:0006801
25 parkinsonism 58 31 occasional (7.5%) Occasional (29-5%) HP:0001300
26 cerebral white matter atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0012762
27 spasticity 31 HP:0001257
28 gait disturbance 31 HP:0001288
29 dysphagia 31 HP:0002015
30 cognitive impairment 31 HP:0100543
31 myoclonus 31 HP:0001336
32 abnormality of the skeletal system 31 HP:0000924
33 ophthalmoplegia 31 HP:0000602
34 abnormality of the eye 31 HP:0000478
35 dysmetria 31 HP:0001310
36 abnormality of extrapyramidal motor function 31 HP:0002071
37 dysdiadochokinesis 31 HP:0002075
38 ophthalmoparesis 58 Occasional (29-5%)
39 abnormality of metabolism/homeostasis 31 HP:0001939
40 rod-cone dystrophy 31 HP:0000510
41 impaired vibratory sensation 31 HP:0002495
42 rigidity 31 HP:0002063
43 polyneuropathy 31 HP:0001271
44 oculomotor apraxia 31 HP:0000657
45 distal amyotrophy 31 HP:0003693
46 olivopontocerebellar atrophy 31 HP:0002542
47 spinocerebellar tract degeneration 31 HP:0002503
48 postural instability 31 HP:0002172
49 limb ataxia 31 HP:0002070
50 urinary bladder sphincter dysfunction 31 HP:0002839

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
spasticity
dysarthria
myoclonus
dysmetria
dysdiadochokinesis
more
Head And Neck Eyes:
ophthalmoplegia
gaze-evoked nystagmus
dysmetric saccades
impaired horizontal smooth pursuit
slow saccades
more
Genitourinary Bladder:
sphincter disturbances

Abdomen Gastrointestinal:
dysphagia

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

Clinical features from OMIM®:

183090 271322 (Updated 05-Apr-2021)

UMLS symptoms related to Spinocerebellar Ataxia 2:


myoclonus; ophthalmoplegia; dysdiadochokinesis; bradykinesia; muscle rigidity; muscle spasticity

GenomeRNAi Phenotypes related to Spinocerebellar Ataxia 2 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-2 9.98 SOD1
2 Decreased viability GR00221-A-3 9.98 HNRNPA2B1 SOD1
3 Decreased viability GR00221-A-4 9.98 FUS HNRNPA2B1 SOD1
4 Decreased viability GR00249-S 9.98 ATXN3 CACNA1A HTT KMT2D SOD1 UBQLN2
5 Decreased viability GR00381-A-1 9.98 KMT2D
6 Decreased viability GR00386-A-1 9.98 HNRNPA2B1 MATR3 SETX UBQLN2
7 Decreased viability GR00402-S-2 9.98 HNRNPA2B1 SETX UBQLN2 VAPB
8 Increased SMN2 exon 7 inclusion GR00254-A 8.62 HNRNPA1 HNRNPA2B1

MGI Mouse Phenotypes related to Spinocerebellar Ataxia 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.21 ALS2 ATXN2 ATXN3 ATXN7 C9orf72 CACNA1A
2 homeostasis/metabolism MP:0005376 10.13 ALS2 ATXN2 ATXN3 C9orf72 CACNA1A HNRNPA2B1
3 immune system MP:0005387 10 ALS2 ATXN3 C9orf72 CACNA1A HNRNPA2B1 HTT
4 mortality/aging MP:0010768 10 ALS2 ATXN2 ATXN2L ATXN7 C9orf72 CACNA1A
5 muscle MP:0005369 9.56 ALS2 ATXN7 CACNA1A KMT2D MATR3 SOD1
6 nervous system MP:0003631 9.5 ALS2 ATXN2 ATXN2L ATXN3 ATXN7 C9orf72

Drugs & Therapeutics for Spinocerebellar Ataxia 2

Drugs for Spinocerebellar Ataxia 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)
# 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 Neurotransmitter Agents Phase 3
5 Anticonvulsants Phase 3
6 Protective Agents Phase 3
7
Lithium carbonate Approved Phase 2 554-13-2
8 Psychotropic Drugs Phase 2
9 Antidepressive Agents Phase 2

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 Unknown status NCT03347344 Phase 3 Riluzole;Placebo
2 Randomized, Placebo-controlled Trial to Test Safety, Tolerability and Efficacy of Lithium Carbonate in Spinocerebellar Ataxia 2 Completed NCT00998634 Phase 2 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 Integrated Functional Evaluation of the Cerebellum Recruiting NCT04288128

Search NIH Clinical Center for Spinocerebellar Ataxia 2

Genetic Tests for Spinocerebellar Ataxia 2

Genetic tests related to Spinocerebellar Ataxia 2:

# Genetic test Affiliating Genes
1 Spinocerebellar Ataxia Type 2 29 ATXN2
2 Amyotrophic Lateral Sclerosis 13 29

Anatomical Context for Spinocerebellar Ataxia 2

MalaCards organs/tissues related to Spinocerebellar Ataxia 2:

40
Eye, Spinal Cord, Cerebellum, Brain, Cortex, Heart, Skin

Publications for Spinocerebellar Ataxia 2

Articles related to Spinocerebellar Ataxia 2:

(show top 50) (show all 521)
# Title Authors PMID Year
1
Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT. 57 6 25 54 61
8896556 1996
2
Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. 61 25 57 6
8896557 1996
3
Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. 61 6 57 25
8896555 1996
4
Are interrupted SCA2 CAG repeat expansions responsible for parkinsonism? 6 25 57
17568014 2007
5
Ataxin-2 repeat-length variation and neurodegeneration. 61 6 57
21610160 2011
6
Association of long ATXN2 CAG repeat sizes with increased risk of amyotrophic lateral sclerosis. 6 61 57
21670397 2011
7
Expanded ATXN2 CAG repeat size in ALS identifies genetic overlap between ALS and SCA2. 57 61 6
21562247 2011
8
Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS. 6 57 61
20740007 2010
9
Spinocerebellar ataxia type 2 (SCA2) presenting with ophthalmoplegia and developmental delay in infancy. 25 54 57 61
14735588 2004
10
Spinocerebellar ataxia type 2 with parkinsonism in ethnic Chinese. 61 6 57
10993999 2000
11
Spinocerebellar ataxia type 2: polyQ repeat variation in the CACNA1A calcium channel modifies age of onset. 6 61 25
16000334 2005
12
Saccade velocity is controlled by polyglutamine size in spinocerebellar ataxia 2. 61 57 25
15349876 2004
13
Nuclear localization or inclusion body formation of ataxin-2 are not necessary for SCA2 pathogenesis in mouse or human. 25 57 61
10973246 2000
14
Spinocerebellar ataxia type 2 (SCA 2) in an infant with extreme CAG repeat expansion. 57 61 25
9779806 1998
15
The prevalence and wide clinical spectrum of the spinocerebellar ataxia type 2 trinucleotide repeat in patients with autosomal dominant cerebellar ataxia. 61 57 25
9106530 1997
16
Damage to the reticulotegmental nucleus of the pons in spinocerebellar ataxia type 1, 2, and 3. 25 57
15477548 2004
17
Frequency analysis and clinical characterization of spinocerebellar ataxia types 1, 2, 3, 6, and 7 in Korean patients. 57 25
12810491 2003
18
SCA-2 presenting as parkinsonism in an Alberta family: clinical, genetic, and PET findings. 25 57
12451209 2002
19
Autosomal dominant cerebellar ataxia: phenotypic differences in genetically defined subtypes? 57 25
9403486 1997
20
SCA2 trinucleotide expansion in German SCA patients. 25 57
10735276 1997
21
Autosomal dominant cerebellar ataxia: clinical analysis of 263 patients from a homogeneous population in Holguín, Cuba. 25 57
2392220 1990
22
Dominantly inherited olivopontocerebellar atrophy from eastern Cuba. Clinical, neuropathological, and biochemical findings. 57 25
2809629 1989
23
Antisense oligonucleotide therapy for spinocerebellar ataxia type 2. 61 57
28405024 2017
24
Germ-line CAG repeat instability causes extreme CAG repeat expansion with infantile-onset spinocerebellar ataxia type 2. 61 57
23047744 2013
25
Epigenetics DNA methylation in the core ataxin-2 gene promoter: novel physiological and pathological implications. 57 61
22037902 2012
26
Unexpanded and intermediate CAG polymorphisms at the SCA2 locus (ATXN2) in the Cuban population: evidence about the origin of expanded SCA2 alleles. 61 57
21934711 2012
27
ATXN-2 CAG repeat expansions are interrupted in ALS patients. 61 6
21537950 2011
28
Estimation of the age at onset in spinocerebellar ataxia type 2 Cuban patients by survival analysis. 61 57
20095980 2010
29
Deranged calcium signaling and neurodegeneration in spinocerebellar ataxia type 2. 25 54 61
19625506 2009
30
Stages of sleep pathology in spinocerebellar ataxia type 2 (SCA2). 57 61
17159102 2006
31
Pontine and cerebellar atrophy correlate with clinical disability in SCA2. 61 57
16476946 2006
32
Spinocerebellar ataxia type 2 (SCA2) with white matter involvement. 61 25 54
15896478 2005
33
Complex phenotypes in an Indian family with homozygous SCA2 mutations. 57 61
14705123 2004
34
The parkinsonian phenotype of spinocerebellar ataxia type 2. 57 61
14732617 2004
35
Expansion of the polyQ repeat in ataxin-2 alters its Golgi localization, disrupts the Golgi complex and causes cell death. 25 54 61
12812977 2003
36
SCA2 may present as levodopa-responsive parkinsonism. 25 54 61
12671950 2003
37
Spinocerebellar ataxia type 2 presenting as familial levodopa-responsive parkinsonism. 61 57
11761482 2001
38
CAG repeat instability at SCA2 locus: anchoring CAA interruptions and linked single nucleotide polymorphisms. 25 54 61
11689490 2001
39
A novel protein with RNA-binding motifs interacts with ataxin-2. 54 25 61
10814712 2000
40
Supratentorial atrophy in spinocerebellar ataxia type 2: MRI study of 20 patients. 61 57
10399871 1999
41
A clinicogenetic analysis of six Indian spinocerebellar ataxia (SCA2) pedigrees. The significance of slow saccades in diagnosis. 57 61
9874485 1998
42
Clinical and genetic studies of spinocerebellar ataxia type 2 in Japanese kindreds. 61 57
9875622 1998
43
Frequency analysis of autosomal dominant cerebellar ataxias in Japanese patients and clinical characterization of spinocerebellar ataxia type 6. 61 57
9550356 1998
44
Clinical and molecular analysis of a pedigree of southern Italian ancestry with spinocerebellar ataxia type 2. 25 54 61
9339711 1997
45
Localization of the candidate gene D-amino acid oxidase outside the refined I-cM region of spinocerebellar ataxia 2. 61 57
7573064 1995
46
Genetic mapping of the spinocerebellar ataxia 2 (SCA2) locus on chromosome 12q23-q24.1. 57 61
7789976 1995
47
Anticipation in spinocerebellar ataxia type 2. 61 57
8220431 1993
48
Factors associated with ATXN2 CAG/CAA repeat intergenerational instability in Spinocerebellar ataxia type 2. 25 61
29756284 2018
49
Staufen1 links RNA stress granules and autophagy in a model of neurodegeneration. 61 25
30194296 2018
50
Spinocerebellar Ataxia Type 2. 61 25
29427103 2018

Variations for Spinocerebellar Ataxia 2

ClinVar genetic disease variations for Spinocerebellar Ataxia 2:

6 (show all 21)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ATXN2 NM_002973.3:c.496_498CAG[(33_?)] Microsatellite Pathogenic 929858 GRCh37:
GRCh38:
2 ATXN2 NM_001372574.1(ATXN2):c.2305-1G>A SNV Pathogenic 997577 GRCh37: 12:111923670-111923670
GRCh38: 12:111485866-111485866
3 ATXN2 NM_001372574.1(ATXN2):c.51_58del (p.Gln18fs) Deletion Pathogenic 1033962 GRCh37: 12:112036781-112036788
GRCh38: 12:111598977-111598984
4 ATXN2 NM_001372574.1(ATXN2):c.48_58del (p.Gln17fs) Deletion Pathogenic 1033961 GRCh37: 12:112036781-112036791
GRCh38: 12:111598977-111598987
5 ATXN2 NM_001372574.1(ATXN2):c.36_40del (p.Gln13fs) Deletion Pathogenic 1033960 GRCh37: 12:112036799-112036803
GRCh38: 12:111598995-111598999
6 ATXN2 NM_001372574.1(ATXN2):c.-24G>T SNV Pathogenic 1033959 GRCh37: 12:112036862-112036862
GRCh38: 12:111599058-111599058
7 ATXN2 NP_002964.3:p.Gln166(>=33) Microsatellite Pathogenic 65668 GRCh37:
GRCh38:
8 ATXN2 ATXN2, (CAG)n REPEAT EXPANSION, INTERMEDIATE Microsatellite risk factor 8114 GRCh37:
GRCh38:
9 ATXN2 NM_001372574.1(ATXN2):c.1921A>C (p.Lys641Gln) SNV Uncertain significance 930922 GRCh37: 12:111947367-111947367
GRCh38: 12:111509563-111509563
10 ATXN2 NM_001372574.1(ATXN2):c.-266C>T SNV Uncertain significance 802894 rs536609944 GRCh37: 12:112037104-112037104
GRCh38: 12:111599300-111599300
11 ATXN2 NM_002973.4(ATXN2):c.3037-12G>A SNV Likely benign 522365 rs2073950 GRCh37: 12:111894072-111894072
GRCh38: 12:111456268-111456268
12 ATXN2 NM_002973.4(ATXN2):c.289-11del Deletion Likely benign 522367 rs144235483 GRCh37: 12:111992032-111992032
GRCh38: 12:111554228-111554228
13 ATXN2 NM_001310121.1(ATXN2):c.-65+599AGC[8] Microsatellite Likely benign 522368 rs10560189 GRCh37: 12:112036754-112036756
GRCh38: 12:111598950-111598952
14 ATXN2 NM_001310121.1(ATXN2):c.-65+600G>A SNV Likely benign 522369 rs3906245 GRCh37: 12:112036779-112036779
GRCh38: 12:111598975-111598975
15 ATXN2 NM_001310121.1(ATXN2):c.-65+597A>G SNV Likely benign 522370 rs76696028 GRCh37: 12:112036782-112036782
GRCh38: 12:111598978-111598978
16 ATXN2 NM_001310121.1(ATXN2):c.-65+582G>A SNV Likely benign 128509 rs4098854 GRCh37: 12:112036797-112036797
GRCh38: 12:111598993-111598993
17 ATXN2 NM_002973.4(ATXN2):c.-91C>T SNV Benign 128508 rs695872 GRCh37: 12:112036929-112036929
GRCh38: 12:111599125-111599125
18 ATXN2 NM_002973.4(ATXN2):c.-162C>G SNV Benign 128507 rs695871 GRCh37: 12:112037000-112037000
GRCh38: 12:111599196-111599196
19 ATXN2 NM_002973.4(ATXN2):c.289-24dup Duplication Benign 522366 rs144235483 GRCh37: 12:111992031-111992032
GRCh38: 12:111554227-111554228
20 ATXN2 NM_001372574.1(ATXN2):c.3322A>G (p.Met1108Val) SNV Benign 930944 GRCh37: 12:111891598-111891598
GRCh38: 12:111453794-111453794
21 ATXN2 NM_002973.3:c.496_498CAG[(?_32)] Microsatellite Benign 929859 GRCh37:
GRCh38:

Expression for Spinocerebellar Ataxia 2

Search GEO for disease gene expression data for Spinocerebellar Ataxia 2.

Pathways for Spinocerebellar Ataxia 2

Pathways related to Spinocerebellar Ataxia 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.68 VAPB UBQLN2 TARDBP SOD1 SETX MATR3
2 11.41 CACNA1A ATXN3 ATXN2L ATXN2

GO Terms for Spinocerebellar Ataxia 2

Cellular components related to Spinocerebellar Ataxia 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.09 UBQLN2 TARDBP SOD1 SETX RBFOX1 MATR3
2 cytoplasm GO:0005737 9.91 VAPB UBQLN2 TARDBP SOD1 SETX RBFOX1
3 neuronal cell body GO:0043025 9.72 SOD1 KCNN3 FUS CACNA1A ALS2
4 nuclear matrix GO:0016363 9.56 MATR3 HNRNPA2B1 ATXN7 ATXN3
5 autophagosome GO:0005776 9.54 UBQLN2 HTT C9orf72
6 cytoplasmic stress granule GO:0010494 9.02 TARDBP RBFOX1 C9orf72 ATXN2L ATXN2

Biological processes related to Spinocerebellar Ataxia 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA splicing GO:0008380 9.65 TARDBP RBFOX1 HNRNPA2B1 HNRNPA1 FUS
2 RNA metabolic process GO:0016070 9.5 HNRNPA2B1 HNRNPA1 ATXN2
3 regulation of autophagosome assembly GO:2000785 9.37 UBQLN2 C9orf72
4 regulation of cytoplasmic mRNA processing body assembly GO:0010603 9.16 ATXN2L ATXN2
5 stress granule assembly GO:0034063 9.13 C9orf72 ATXN2L ATXN2
6 RNA transport GO:0050658 8.8 RBFOX1 HNRNPA2B1 ATXN2

Molecular functions related to Spinocerebellar Ataxia 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.16 VAPB UBQLN2 TARDBP SOD1 SETX RBFOX1
2 nucleic acid binding GO:0003676 9.91 TARDBP RBFOX1 MATR3 HNRNPA2B1 HNRNPA1 FUS
3 mRNA 3'-UTR binding GO:0003730 9.62 TARDBP RBFOX1 HNRNPA2B1 FUS
4 RNA binding GO:0003723 9.61 TARDBP SETX RBFOX1 MATR3 HNRNPA2B1 HNRNPA1
5 miRNA binding GO:0035198 9.43 MATR3 HNRNPA2B1 HNRNPA1
6 pre-mRNA intronic binding GO:0097157 9.4 TARDBP HNRNPA2B1
7 G-rich strand telomeric DNA binding GO:0098505 9.37 HNRNPA2B1 HNRNPA1
8 identical protein binding GO:0042802 9.36 UBQLN2 TARDBP SOD1 SETX MATR3 HTT

Sources for Spinocerebellar Ataxia 2

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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