MCID: SPN301
MIFTS: 56

Spinocerebellar Ataxia 2

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 2

MalaCards integrated aliases for Spinocerebellar Ataxia 2:

Name: Spinocerebellar Ataxia 2 57 53 75 29 13 6
Spinocerebellar Ataxia Type 2 12 24 53 25 59 55 15 73
Sca2 57 24 25 59 75
Amyotrophic Lateral Sclerosis 13 57 12 75 6
Spinocerebellar Degeneration with Slow Eye Movements 57 53 75
Sdsem 57 53 75
Cerebellar Degeneration with Slow Eye Movements 57 75
Olivopontocerebellar Atrophy Holguin Type 53 75
Amyotrophic Lateral Sclerosis Type 13 12 15
Spinocerebellar Ataxia Cuban Type 53 75
Olivopontocerebellar Atrophy Ii 57 75
Spinocerebellar Atrophy Ii 57 75
Wadia-Swami Syndrome 57 75
Opca2 57 75
Als13 12 75
Spinocerebellar Degeneration with Slow Eye Movements; Sdsem 57
Amyotrophic Lateral Sclerosis, Susceptibility to, 13 57
Spinocerebellar Ataxia with Slow Eye Movements 53
Olivopontocerebellar Atrophy, Holguin Type 57
Olivopontocerebellar Atrophy Ii; Opca2 57
Spinocerebellar Ataxia, Cuban Type 57
Ataxia, Spinocerebellar, Type 2 ) 40
Olivopontocerebellar Atrophy 2 53
Spinocerebellar Atrophy 2 53
Wadia Swami Syndrome 53
Opca Ii 75
Sca 2 53

Characteristics:

Orphanet epidemiological data:

59
spinocerebellar ataxia type 2
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Worldwide); Age of onset: All ages;

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
spinocerebellar ataxia 2:
Inheritance genetic anticipation autosomal dominant inheritance

spinocerebellar degeneration with slow eye movements:
Inheritance autosomal recessive inheritance


GeneReviews:

24
Penetrance See establishing the diagnosis, allele sizes and genotype-phenotype correlations...

Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Spinocerebellar Ataxia 2

UniProtKB/Swiss-Prot : 75 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 olivopontocerebellar atrophy and spinocerebellar degeneration, and has symptoms including muscle rigidity, muscle spasticity and myoclonus. An important gene associated with Spinocerebellar Ataxia 2 is ATXN2 (Ataxin 2). The drugs Riluzole and Glutamic Acid have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and spinal cord, and related phenotypes are nystagmus and dysarthria

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)

NIH Rare Diseases : 53 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.

Genetics Home Reference : 25 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 speech and swallowing difficulties, rigidity, tremors, and weakness in the muscles that control eye movement (ophthalmoplegia). Eye muscle weakness leads to a decreased ability to make rapid eye movements (saccadic slowing).

Disease Ontology : 12 An amyotrophic lateral sclerosis where a mutation that has material basis in the ATXN2 gene on chromosome 12 contributes to suscepitbility.

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

(show all 28)
# Related Disease Score Top Affiliating Genes
1 olivopontocerebellar atrophy 31.9 ATXN2 ATXN7
2 spinocerebellar degeneration 30.9 ATXN2 ATXN3
3 spinocerebellar ataxia 1 29.9 ATXN3 ATXN7 CACNA1A
4 cerebellar degeneration 29.6 ATXN2 CACNA1A
5 autosomal dominant cerebellar ataxia 28.9 ATXN2 ATXN3 ATXN7 CACNA1A
6 machado-joseph disease 28.0 ATXN2 ATXN3 ATXN7 CACNA1A
7 aceruloplasminemia 27.9 ATXN2 ATXN3 ATXN7 CACNA1A
8 olivopontocerebellar atrophy ii, autosomal recessive 12.2
9 spinocerebellar ataxia, autosomal recessive 2 11.0
10 nevus of ota 10.0
11 spinocerebellar ataxia 7 9.9 ATXN2 ATXN7
12 alzheimer disease 9.8
13 amyotrophic lateral sclerosis 1 9.8
14 schizophrenia 9.8
15 mitochondrial dna depletion syndrome 7 9.8
16 ataxia-oculomotor apraxia 3 9.8
17 lateral sclerosis 9.8
18 essential tremor 9.8
19 spinal and bulbar muscular atrophy, x-linked 1 9.4 ATXN3 ATXN7
20 friedreich ataxia 1 9.3 ATXN2 ATXN3 CACNA1A
21 spinocerebellar ataxia 18 9.1 ATXN3 ATXN7 CACNA1A
22 spinocerebellar ataxia 6 9.1 ATXN3 ATXN7 CACNA1A
23 spinocerebellar ataxia 17 9.1 ATXN3 ATXN7 CACNA1A
24 spinocerebellar ataxia 31 9.0 ATXN3 ATXN7 CACNA1A
25 cerebellar disease 8.9 ATXN2 ATXN3 ATXN7 CACNA1A
26 spinocerebellar ataxia 12 8.8 ATXN2 ATXN3 ATXN7 CACNA1A
27 dentatorubral-pallidoluysian atrophy 8.8 ATXN2 ATXN3 ATXN7 CACNA1A
28 hereditary ataxia 8.8 ATXN2 ATXN3 ATXN7 CACNA1A

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



Diseases related to Spinocerebellar Ataxia 2

Symptoms & Phenotypes for Spinocerebellar Ataxia 2

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
spasticity
dysarthria
myoclonus
limb ataxia
dysmetria
more
Neurologic Peripheral Nervous System:
peripheral neuropathy
decreased vibration sense
distal muscular atrophy

Genitourinary Bladder:
sphincter disturbances

Abdomen Gastrointestinal:
dysphagia

Head And Neck Eyes:
ophthalmoplegia
gaze-evoked nystagmus
dysmetric saccades
impaired horizontal smooth pursuit
slow saccades
more

Clinical features from OMIM:

183090 271322

Human phenotypes related to Spinocerebellar Ataxia 2:

59 32 (show top 50) (show all 56)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0000639
2 dysarthria 59 32 frequent (33%) Frequent (79-30%) HP:0001260
3 chorea 59 32 frequent (33%) Frequent (79-30%) HP:0002072
4 gait ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0002066
5 dystonia 59 32 frequent (33%) Frequent (79-30%) HP:0001332
6 cerebral cortical atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0002120
7 muscle cramps 59 32 frequent (33%) Frequent (79-30%) HP:0003394
8 dementia 59 32 frequent (33%) Frequent (79-30%) HP:0000726
9 fasciculations 59 32 frequent (33%) Frequent (79-30%) HP:0002380
10 progressive cerebellar ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002073
11 hyporeflexia 59 32 frequent (33%) Frequent (79-30%) HP:0001265
12 postural tremor 59 32 frequent (33%) Frequent (79-30%) HP:0002174
13 parkinsonism 59 32 occasional (7.5%) Occasional (29-5%) HP:0001300
14 generalized hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001290
15 supranuclear ophthalmoplegia 59 32 frequent (33%) Frequent (79-30%) HP:0000623
16 slow saccadic eye movements 59 32 frequent (33%) Frequent (79-30%) HP:0000514
17 hyperactive deep tendon reflexes 59 32 occasional (7.5%) Occasional (29-5%) HP:0006801
18 abnormal cortical gyration 59 32 occasional (7.5%) Occasional (29-5%) HP:0002536
19 abnormal cell morphology 59 32 frequent (33%) Frequent (79-30%) HP:0025461
20 cerebral white matter atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0012762
21 abnormality of the substantia nigra 59 32 hallmark (90%) Very frequent (99-80%) HP:0045007
22 cerebellar purkinje layer atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0012082
23 kinetic tremor 59 32 frequent (33%) Frequent (79-30%) HP:0030186
24 abnormality of the spinocerebellar tracts 59 32 frequent (33%) Frequent (79-30%) HP:0003133
25 olivopontocerebellar hypoplasia 59 32 frequent (33%) Frequent (79-30%) HP:0006955
26 spinal cord posterior columns myelin loss 59 32 frequent (33%) Frequent (79-30%) HP:0008311
27 muscular hypotonia 32 HP:0001252
28 spasticity 32 HP:0001257
29 gait disturbance 32 HP:0001288
30 dysphagia 32 HP:0002015
31 cognitive impairment 32 HP:0100543
32 abnormality of the eye 32 HP:0000478
33 abnormality of metabolism/homeostasis 32 HP:0001939
34 myoclonus 32 HP:0001336
35 limb ataxia 32 HP:0002070
36 dysmetria 32 HP:0001310
37 urinary bladder sphincter dysfunction 32 HP:0002839
38 abnormality of the skeletal system 32 HP:0000924
39 ophthalmoparesis 59 Occasional (29-5%)
40 rigidity 32 HP:0002063
41 abnormality of extrapyramidal motor function 32 HP:0002071
42 dysdiadochokinesis 32 HP:0002075
43 bradykinesia 32 HP:0002067
44 oculomotor apraxia 32 HP:0000657
45 ophthalmoplegia 32 HP:0000602
46 rod-cone dystrophy 32 HP:0000510
47 polyneuropathy 32 HP:0001271
48 impaired vibratory sensation 32 HP:0002495
49 distal amyotrophy 32 HP:0003693
50 postural instability 32 HP:0002172

UMLS symptoms related to Spinocerebellar Ataxia 2:


muscle rigidity, muscle spasticity, myoclonus, ophthalmoplegia, bradykinesia, dysdiadochokinesis

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

26 (show all 20)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.74 GLS
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.74 ATXN3 ATXN7
3 Increased shRNA abundance (Z-score > 2) GR00366-A-13 9.74 ATXN3 GLS
4 Increased shRNA abundance (Z-score > 2) GR00366-A-133 9.74 GLS
5 Increased shRNA abundance (Z-score > 2) GR00366-A-143 9.74 ATXN3
6 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.74 GLS
7 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.74 ATXN3
8 Increased shRNA abundance (Z-score > 2) GR00366-A-195 9.74 ATXN3
9 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.74 ATXN7
10 Increased shRNA abundance (Z-score > 2) GR00366-A-24 9.74 ATXN3
11 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.74 ATXN7
12 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.74 ATXN7
13 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.74 GLS
14 Increased shRNA abundance (Z-score > 2) GR00366-A-5 9.74 GLS
15 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.74 ATXN3 GLS
16 Increased shRNA abundance (Z-score > 2) GR00366-A-54 9.74 ATXN3 ATXN7 GLS
17 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.74 ATXN7 GLS
18 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.74 ATXN3
19 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.74 ATXN3
20 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.74 GLS

MGI Mouse Phenotypes related to Spinocerebellar Ataxia 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.5 ATXN2 ATXN3 ATXN7 CACNA1A GLS KMT2D
2 nervous system MP:0003631 9.23 ATXN2 ATXN3 ATXN7 CACNA1A KCNN3 KMT2D

Drugs & Therapeutics for Spinocerebellar Ataxia 2

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

(show all 19)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Riluzole Approved, Investigational Phase 3 1744-22-5 5070
2
Glutamic Acid Approved, Nutraceutical Phase 3 56-86-0 33032
3 Anticonvulsants Phase 3
4 Excitatory Amino Acid Antagonists Phase 3
5 Excitatory Amino Acids Phase 3
6 Neuroprotective Agents Phase 3
7 Neurotransmitter Agents Phase 3
8 Protective Agents Phase 3
9 Antidepressive Agents Phase 2
10 Antimanic Agents Phase 2
11 Central Nervous System Depressants Phase 2
12 Lithium carbonate Phase 2 554-13-2
13 Psychotropic Drugs Phase 2
14 Tranquilizing Agents Phase 2
15
Dopamine Approved 51-61-6, 62-31-7 681
16
4-Aminopyridine Approved Not Applicable 504-24-5 1727
17 Dopamine Agents
18 Dopamine agonists
19 Potassium Channel Blockers Not Applicable

Interventional clinical trials:

(show all 15)
# Name Status NCT ID Phase Drugs
1 An Open Pilot Trial of BHV-4157 Active, not recruiting NCT03408080 Phase 3 BHV-4157
2 Trial in Adult Subjects With Spinocerebellar Ataxia Active, not recruiting NCT02960893 Phase 2, Phase 3 BHV-4157;Placebo Comparator
3 Clinical Trial With Riluzole in Spinocerebellar Ataxia Type 2 (ATRIL) Not yet recruiting NCT03347344 Phase 3 Riluzole;Placebo
4 Safety and Tolerability of Lithium in Spinocerebellar Ataxia 2 (SCA2) Completed NCT00998634 Phase 2 LITHIUM CARBONATE
5 Umbilical Cord Mesenchymal Stem Cells Therapy for Patients With Spinocerebellar Ataxia Not yet recruiting NCT03378414 Phase 2
6 RISCA : Prospective Study of Individuals at Risk for SCA1, SCA2, SCA3, SCA6, SCA7 Unknown status NCT01037777
7 Biomarkers in Autosomal Dominant Cerebellar Ataxia Completed NCT01470729
8 Parkinsonism in Spinocerebellar Ataxia Type 6 Completed NCT01934998
9 Dalfampridine and Gait in Spinocerebellar Ataxias Completed NCT01811706 Not Applicable Dalfampridine;Placebo
10 Natural History Study of and Genetic Modifiers in Spinocerebellar Ataxias Recruiting NCT01060371
11 The EUROSCA Natural History Study Recruiting NCT02440763
12 NIPD on CFTC for Triplet Repeat Diseases Recruiting NCT03087526 Not Applicable
13 Hong Kong Spinocerebellar Ataxias Registry Recruiting NCT03336008
14 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
15 Rehabilitative Trial With Cerebello-Spinal tDCS in Neurodegenerative Ataxia Active, not recruiting NCT03120013 Not Applicable

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 2 29 ATXN2

Anatomical Context for Spinocerebellar Ataxia 2

MalaCards organs/tissues related to Spinocerebellar Ataxia 2:

41
Eye, Brain, Spinal Cord, Cerebellum, Subthalamic Nucleus

Publications for Spinocerebellar Ataxia 2

Articles related to Spinocerebellar Ataxia 2:

(show top 50) (show all 138)
# Title Authors Year
1
Association of glutathione S-transferase omega polymorphism and spinocerebellar ataxia type 2. ( 28017238 )
2017
2
NESSCA Validation and Responsiveness of Several Rating Scales in Spinocerebellar Ataxia Type 2. ( 28456900 )
2017
3
Buccal Cell Micronucleus Frequency Is Significantly Elevated in Patients with Spinocerebellar Ataxia Type 2. ( 28923333 )
2017
4
The Multiple Faces of Spinocerebellar Ataxia type 2. ( 28904990 )
2017
5
RNA-binding disturbances as a continuum from spinocerebellar ataxia type 2 to Parkinson disease. ( 27663142 )
2016
6
ATXN2-AS, a gene antisense to ATXN2, is associated with spinocerebellar ataxia type 2 and amyotrophic lateral sclerosis. ( 27531668 )
2016
7
Strategy use, planning, and rule acquisition deficits in spinocerebellar ataxia type 2 patients. ( 25796959 )
2015
8
ATXN3, ATXN7, CACNA1A, and RAI1 Genes and Mitochondrial Polymorphism A10398G Did Not Modify Age at Onset in Spinocerebellar Ataxia Type 2 Patients from South America. ( 25869926 )
2015
9
Progression of Microstructural Damage in Spinocerebellar Ataxia Type 2: A Longitudinal DTI Study. ( 25882284 )
2015
10
Does degeneration of the subthalamic nucleus prevent parkinsonism in spinocerebellar ataxia type 2 and type 3? ( 26503940 )
2015
11
Modifications of resting state networks in spinocerebellar ataxia type 2. ( 26094751 )
2015
12
Bolivian kindred with combined spinocerebellar ataxia types 2 and 10. ( 25630585 )
2015
13
Amyotrophic Lateral Sclerosis Risk for Spinocerebellar Ataxia Type 2 ATXN2 CAG Repeat Alleles: A Meta-analysis. ( 25285812 )
2014
14
Executive deficit in spinocerebellar ataxia type 2 is related to expanded CAG repeats: Evidence from antisaccadic eye movements. ( 25189938 )
2014
15
Comprehensive study of early features in spinocerebellar ataxia 2: delineating the prodromal stage of the disease. ( 24906824 )
2014
16
Parahippocampal gray matter alterations in Spinocerebellar Ataxia Type 2 identified by voxel based morphometry. ( 25263602 )
2014
17
Progression of early features of spinocerebellar ataxia type 2 in individuals at risk: a longitudinal study. ( 24657153 )
2014
18
Infantile Onset Spinocerebellar Ataxia 2 (SCA2): A Clinical Report With Review of Previous Cases. ( 24300164 )
2014
19
A randomized controlled pilot trial of lithium in spinocerebellar ataxia type 2. ( 25346067 )
2014
20
Couples at risk for spinocerebellar ataxia type 2: the Cuban prenatal diagnosis experience. ( 23673432 )
2013
21
Spinocerebellar ataxia type 2 neurodegeneration differentially affects error-based and strategic-based visuomotor learning. ( 23754233 )
2013
22
Germ-line CAG repeat instability causes extreme CAG repeat expansion with infantile-onset spinocerebellar ataxia type 2. ( 23047744 )
2013
23
Amyotrophic Lateral Sclerosis and Spinocerebellar Ataxia Type 2 in a Family With Full CAG Repeat Expansions of ATXN2. ( 23959108 )
2013
24
Reduced cardiac 123I-metaiodobenzylguanidine uptake in patients with spinocerebellar ataxia type 2: a comparative study with Parkinson's disease. ( 23929432 )
2013
25
Comparative multiplex dosage analysis in spinocerebellar ataxia type 2 patients. ( 23661442 )
2013
26
Generation of human-induced pluripotent stem cells to model spinocerebellar ataxia type 2 in vitro. ( 23224816 )
2013
27
Thiamine and spinocerebellar ataxia type 2. ( 23314445 )
2013
28
Involvement of the cholinergic basal forebrain nuclei in spinocerebellar ataxia type 2 (SCA2). ( 23363055 )
2013
29
Quantitative profiling and identification of plasma proteins of spinocerebellar ataxia type 2 patients. ( 23735416 )
2013
30
FUS co-localizes with polyglutamine, but not with TDP-43 in neuronal intranuclear inclusions in spinocerebellar ataxia type 2. ( 23841897 )
2013
31
Spinocerebellar ataxia type 2: clinical presentation, molecular mechanisms, and therapeutic perspectives. ( 22996397 )
2013
32
Supratentorial and infratentorial damage in spinocerebellar ataxia 2: A diffusion-weighted MRI study. ( 24375449 )
2013
33
Estimation of survival in spinocerebellar ataxia type 2 Cuban patients. ( 22758789 )
2013
34
Chronic suppression of inositol 1,4,5-triphosphate receptor-mediated calcium signaling in cerebellar purkinje cells alleviates pathological phenotype in spinocerebellar ataxia 2 mice. ( 22973002 )
2012
35
MRI shows a region-specific pattern of atrophy in spinocerebellar ataxia type 2. ( 21850525 )
2012
36
Spinocerebellar ataxia types 2 and 10: more than a coincidental association? ( 23117922 )
2012
37
Spinocerebellar ataxia types 2 and 10: more than a coincidental association?-Reply. ( 23753686 )
2012
38
Lisuride reduces involuntary periodic leg movements in spinocerebellar ataxia type 2 patients. ( 22477456 )
2012
39
Two in one: report of a patient with spinocerebellar ataxia types 2 and 10. ( 22964913 )
2012
40
Selective positive modulator of calcium-activated potassium channels exerts beneficial effects in a mouse model of spinocerebellar ataxia type 2. ( 23102227 )
2012
41
Deranged calcium signaling in Purkinje cells and pathogenesis in spinocerebellar ataxia 2 (SCA2) and other ataxias. ( 20480274 )
2012
42
Pathoanatomy of cerebellar degeneration in spinocerebellar ataxia type 2 (SCA2) and type 3 (SCA3). ( 22198871 )
2012
43
Infantile childhood onset of spinocerebellar ataxia type 2. ( 21975856 )
2012
44
Oxidative stress as a cofactor in spinocerebellar ataxia type 2. ( 22564351 )
2012
45
Psychotic-affective symptoms and multiple system atrophy expand phenotypes of spinocerebellar ataxia type 2. ( 22605703 )
2012
46
Subtle rapid eye movement sleep abnormalities in presymptomatic spinocerebellar ataxia type 2 gene carriers. ( 20960485 )
2011
47
Sleep disorders in spinocerebellar ataxia type 2 patients. ( 21494015 )
2011
48
Saccadic latency is prolonged in Spinocerebellar Ataxia type 2 and correlates with the frontal-executive dysfunctions. ( 21481421 )
2011
49
Spinocerebellar ataxia type 2 (SCA2): identification of early brain degeneration in one monozygous twin in the initial disease stage. ( 21128038 )
2011
50
Spinocerebellar ataxia type 2 is associated with Parkinsonism and Lewy body pathology. ( 22700602 )
2011

Variations for Spinocerebellar Ataxia 2

ClinVar genetic disease variations for Spinocerebellar Ataxia 2:

6
(show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 ATXN2 ATXN2, (CAG)n EXPANSION, INTERMEDIATE NT expansion risk factor
2 ATXN2 NM_002973.3: c.496_498CAG([33_?]) NT expansion Pathogenic,risk factor
3 ATXN2 NM_002973.3(ATXN2): c.3517-12G> A single nucleotide variant Likely benign rs2073950 GRCh37 Chromosome 12, 111894072: 111894072
4 ATXN2 NM_002973.3(ATXN2): c.3517-12G> A single nucleotide variant Likely benign rs2073950 GRCh38 Chromosome 12, 111456268: 111456268
5 ATXN2 NM_002973.3(ATXN2): c.769-11_769-10insT insertion Benign rs377363486 GRCh37 Chromosome 12, 111992031: 111992032
6 ATXN2 NM_002973.3(ATXN2): c.769-11_769-10insT insertion Benign rs377363486 GRCh38 Chromosome 12, 111554227: 111554228
7 ATXN2 NM_002973.3(ATXN2): c.769-11delT deletion Likely benign rs144235483 GRCh37 Chromosome 12, 111992032: 111992032
8 ATXN2 NM_002973.3(ATXN2): c.769-11delT deletion Likely benign rs144235483 GRCh38 Chromosome 12, 111554228: 111554228
9 ATXN2 NM_002973.3(ATXN2): c.563_565delAGC (p.Gln188del) deletion Likely benign rs10560189 GRCh37 Chromosome 12, 112036754: 112036756
10 ATXN2 NM_002973.3(ATXN2): c.563_565delAGC (p.Gln188del) deletion Likely benign rs10560189 GRCh38 Chromosome 12, 111598950: 111598952
11 ATXN2 NM_002973.3(ATXN2): c.540G> A (p.Gln180=) single nucleotide variant Likely benign rs3906245 GRCh37 Chromosome 12, 112036779: 112036779
12 ATXN2 NM_002973.3(ATXN2): c.540G> A (p.Gln180=) single nucleotide variant Likely benign rs3906245 GRCh38 Chromosome 12, 111598975: 111598975
13 ATXN2 NM_002973.3(ATXN2): c.537A> G (p.Gln179=) single nucleotide variant Likely benign rs76696028 GRCh37 Chromosome 12, 112036782: 112036782
14 ATXN2 NM_002973.3(ATXN2): c.537A> G (p.Gln179=) single nucleotide variant Likely benign rs76696028 GRCh38 Chromosome 12, 111598978: 111598978

Expression for Spinocerebellar Ataxia 2

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

Pathways for Spinocerebellar Ataxia 2

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 cytoplasm GO:0005737 9.28 ARID1B ATXN2 ATXN3 ATXN7 CACNA1A CEP76

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

# Name GO ID Score Top Affiliating Genes
1 chemical synaptic transmission GO:0007268 9.33 ATXN3 CACNA1A GLS
2 RNA transport GO:0050658 8.96 ATXN2 RBFOX1
3 neuron-neuron synaptic transmission GO:0007270 8.62 ARID1B CACNA1A

Sources for Spinocerebellar Ataxia 2

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
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36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
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49 NCI
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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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