SCA2
MCID: SPN301
MIFTS: 59

Spinocerebellar Ataxia 2 (SCA2)

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic 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 53 75 29 13 6
Spinocerebellar Ataxia Type 2 12 24 53 25 59 55 15 73
Amyotrophic Lateral Sclerosis 13 57 12 75 29 6
Sca2 57 24 25 59 75
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:



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 spinocerebellar ataxia 1 and autosomal dominant cerebellar ataxia, and has symptoms including myoclonus, dysdiadochokinesis and bradykinesia. 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

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

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).

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.

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)

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 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 54)
# Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia 1 31.2 CACNA1A ATXN7 ATXN3
2 autosomal dominant cerebellar ataxia 30.4 CACNA1A ATXN7 ATXN3 ATXN2
3 cerebellar degeneration 29.8 ATXN2 CACNA1A
4 olivopontocerebellar atrophy 29.8 ATXN2 ATXN7
5 hereditary ataxia 29.7 CACNA1A ATXN7 ATXN3 ATXN2
6 dentatorubral-pallidoluysian atrophy 29.5 CACNA1A ATXN7 ATXN3 ATXN2
7 machado-joseph disease 29.4 CACNA1A ATXN7 ATXN3 ATXN2
8 aceruloplasminemia 29.3 CACNA1A ATXN7 ATXN3 ATXN2
9 olivopontocerebellar atrophy ii, autosomal recessive 12.3
10 spinocerebellar ataxia, autosomal recessive 2 11.2
11 spinocerebellar degeneration 10.5
12 cognitive function 1, social 10.2
13 ataxia and polyneuropathy, adult-onset 10.1
14 nevus of ota 10.1
15 motor neuron disease 10.1
16 dystonia 10.1
17 atrial standstill 1 10.0
18 multiple system atrophy 1 10.0
19 parkinson disease, late-onset 10.0
20 polyglucosan body myopathy 1 with or without immunodeficiency 10.0
21 intermittent claudication 10.0
22 oromandibular dystonia 10.0
23 epilepsy 10.0
24 hypogonadism 10.0
25 focal epilepsy 10.0
26 mood disorder 10.0
27 muscular atrophy 10.0
28 tremor 10.0
29 alzheimer disease 10.0
30 amyotrophic lateral sclerosis 1 10.0
31 schizophrenia 10.0
32 mitochondrial dna depletion syndrome 7 10.0
33 lateral sclerosis 10.0
34 spinocerebellar ataxia 7 9.9 ATXN2 ATXN7
35 multiple sclerosis 9.9
36 huntington disease 9.9
37 retinitis pigmentosa 9.9
38 leber congenital amaurosis 4 9.9
39 focal dystonia 9.9
40 cervical dystonia 9.9
41 infantile epileptic encephalopathy 9.9
42 retinitis 9.9
43 essential tremor 9.9
44 primary cerebellar degeneration 9.8 CACNA1A ATXN3 ATXN2
45 spinal and bulbar muscular atrophy, x-linked 1 9.8 ATXN3 ATXN7
46 friedreich ataxia 1 9.8 CACNA1A ATXN3 ATXN2
47 nervous system disease 9.7 ATXN3 CACNA1A KMT2D
48 spinocerebellar ataxia 18 9.7 CACNA1A ATXN7 ATXN3
49 spinocerebellar ataxia 6 9.7 CACNA1A ATXN7 ATXN3
50 spinocerebellar ataxia 17 9.7 CACNA1A ATXN7 ATXN3

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 generalized hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001290
14 parkinsonism 59 32 occasional (7.5%) Occasional (29-5%) HP:0001300
15 slow saccadic eye movements 59 32 frequent (33%) Frequent (79-30%) HP:0000514
16 supranuclear ophthalmoplegia 59 32 frequent (33%) Frequent (79-30%) HP:0000623
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 rod-cone dystrophy 32 HP:0000510
44 bradykinesia 32 HP:0002067
45 ophthalmoplegia 32 HP:0000602
46 oculomotor apraxia 32 HP:0000657
47 polyneuropathy 32 HP:0001271
48 postural instability 32 HP:0002172
49 impaired vibratory sensation 32 HP:0002495
50 distal amyotrophy 32 HP:0003693

UMLS symptoms related to Spinocerebellar Ataxia 2:


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

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 9.76 ARID1B ATXN2 ATXN3 ATXN7 CACNA1A GLS
2 mortality/aging MP:0010768 9.56 ARID1B ATXN2 ATXN7 CACNA1A GLS KCNN3
3 nervous system MP:0003631 9.28 ARID1B ATXN2 ATXN3 ATXN7 CACNA1A KCNN3

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 Protective Agents Phase 3
4 Excitatory Amino Acid Antagonists Phase 3
5 Neuroprotective Agents Phase 3
6 Neurotransmitter Agents Phase 3
7 Anticonvulsants Phase 3
8 Excitatory Amino Acids Phase 3
9
Lithium carbonate Approved Phase 2 554-13-2
10 Psychotropic Drugs Phase 2
11 Antidepressive Agents Phase 2
12 Central Nervous System Depressants Phase 2
13 Tranquilizing Agents Phase 2
14 Antimanic 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 Clinical Trial With Riluzole in Spinocerebellar Ataxia Type 2 (ATRIL) Recruiting NCT03347344 Phase 3 Riluzole;Placebo
2 An Open Pilot Trial of BHV-4157 Active, not recruiting NCT03408080 Phase 3 BHV-4157
3 BHV-4157 in Adult Subjects With Spinocerebellar Ataxia Not yet recruiting NCT03701399 Phase 3 troriluzole;Placebos
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
2 Amyotrophic Lateral Sclerosis 13 29

Anatomical Context for Spinocerebellar Ataxia 2

MalaCards organs/tissues related to Spinocerebellar Ataxia 2:

41
Eye, Brain, Spinal Cord, Cerebellum, Testes, Skin, Liver

Publications for Spinocerebellar Ataxia 2

Articles related to Spinocerebellar Ataxia 2:

(show top 50) (show all 244)
# Title Authors Year
1
Spinocerebellar ataxia type 2 presenting with rapidly progressing muscle weakness and muscular atrophy. ( 29461011 )
2018
2
Non-ataxic manifestations of Spinocerebellar ataxia-2, their determinants and predictors. ( 30196130 )
2018
3
Structural cerebellar correlates of cognitive functions in spinocerebellar ataxia type 2. ( 29356974 )
2018
4
The progression rate of spinocerebellar ataxia type 2 changes with stage of disease. ( 29370806 )
2018
5
Spinocerebellar Ataxia Type 2. ( 29427103 )
2018
6
Autonomic function testing in spinocerebellar ataxia type 2. ( 29435867 )
2018
7
Brain atrophy measures in preclinical and manifest spinocerebellar ataxia type 2. ( 29468174 )
2018
8
Progression of corticospinal tract dysfunction in pre-ataxic spinocerebellar ataxia type 2: A two-years follow-up TMS study. ( 29550649 )
2018
9
Factors associated with ATXN2 CAG/CAA repeat intergenerational instability in Spinocerebellar ataxia type 2. ( 29756284 )
2018
10
Structural Complexity of the Cerebellum and Cerebral Cortex is Reduced in Spinocerebellar Ataxia Type 2. ( 29975004 )
2018
11
Predictors of survival in spinocerebellar ataxia type 2 population from Southern Italy. ( 30030635 )
2018
12
The cerebellar topography of attention sub-components in spinocerebellar ataxia type 2. ( 30121445 )
2018
13
Voxel-based meta-analysis of gray and white matter volume abnormalities in spinocerebellar ataxia type 2. ( 30125476 )
2018
14
Neurorehabilitation therapy in spinocerebellar ataxia type 2: A 24-week, rater-blinded, randomized, controlled trial. ( 30132999 )
2018
15
Selective Forces Related to Spinocerebellar Ataxia Type 2. ( 30219976 )
2018
16
Abnormal Findings in Polysomnographic Recordings of Patients with Spinocerebellar Ataxia Type 2 (SCA2). ( 30264264 )
2018
17
Correction to: Selective Forces Related to Spinocerebellar Ataxia Type 2. ( 30450503 )
2018
18
Association of glutathione S-transferase omega polymorphism and spinocerebellar ataxia type 2. ( 28017238 )
2017
19
NESSCA Validation and Responsiveness of Several Rating Scales in Spinocerebellar Ataxia Type 2. ( 28456900 )
2017
20
Buccal Cell Micronucleus Frequency Is Significantly Elevated in Patients with Spinocerebellar Ataxia Type 2. ( 28923333 )
2017
21
The Multiple Faces of Spinocerebellar Ataxia type 2. ( 28904990 )
2017
22
Spinocerebellar ataxia type 2 associated with amyotrophic lateral sclerosis. ( 28879921 )
2017
23
Non-motor and Extracerebellar Features in Spinocerebellar Ataxia Type 2. ( 26825292 )
2017
24
Postural Instability in Prodromal Spinocerebellar Ataxia Type 2: Insights into Cerebellar Involvement Before Onset of Permanent Ataxia. ( 26956609 )
2017
25
On the distribution of intranuclear and cytoplasmic aggregates in the brainstem of patients with spinocerebellar ataxia type 2 and 3. ( 27377427 )
2017
26
Corticomuscular Coherence: a Novel Tool to Assess the Pyramidal Tract Dysfunction in Spinocerebellar Ataxia Type 2. ( 27730516 )
2017
27
Prodromal spinocerebellar ataxia type 2: Prospects for early interventions and ethical challenges. ( 28256108 )
2017
28
Evidence of oxidative stress and mitochondrial dysfunction in spinocerebellar ataxia type 2 (SCA2) patient fibroblasts: Effect of coenzyme Q10 supplementation on these parameters. ( 28263872 )
2017
29
Antisense oligonucleotide therapy for spinocerebellar ataxia type 2. ( 28405024 )
2017
30
Professor Wadia's contributions to neurology and spinocerebellar ataxia type 2. ( 28489147 )
2017
31
A positive feedback loop linking enhanced mGluR function and basal calcium in spinocerebellar ataxia type 2. ( 28518055 )
2017
32
Genetic analysis of age at onset variation in spinocerebellar ataxia type 2. ( 28534046 )
2017
33
Spinocerebellar Ataxia Type 2 With Onset at Toddlerhood. ( 28538256 )
2017
34
Normal ATXN2 alleles influences on the age at onset in spinocerebellar ataxia type 2. ( 28620961 )
2017
35
Neurological phenotypes in spinocerebellar ataxia type 2: Role of mitochondrial polymorphism A10398G and other risk factors. ( 28648514 )
2017
36
Spinocerebellar Ataxia Type 2 Is Associated with the Extracellular Loss of Superoxide Dismutase but Not Catalase Activity. ( 28659860 )
2017
37
Spinocerebellar Ataxia Type 2: Clinicogenetic Aspects, Mechanistic Insights, and Management Approaches. ( 28955296 )
2017
38
Potassium channel dysfunction underlies Purkinje neuron spiking abnormalities in spinocerebellar ataxia type 2. ( 29016852 )
2017
39
Microstructural MRI Basis of the Cognitive Functions in Patients with Spinocerebellar Ataxia Type 2. ( 29031602 )
2017
40
Progression of spinocerebellar ataxia type 2. What do we need to know? ( 29236817 )
2017
41
Impact of disease duration on functional status of patients with spinocerebellar ataxia type 2. ( 29236819 )
2017
42
Heritability of saccadic eye movements in spinocerebellar ataxia type 2: insights into an endophenotype marker. ( 29276612 )
2017
43
MRI Signal Abnormalities of the Inferior Olivary Nuclei in Spinocerebellar Ataxia Type 2. ( 29422848 )
2017
44
RNA-binding disturbances as a continuum from spinocerebellar ataxia type 2 to Parkinson disease. ( 27663142 )
2016
45
Ayurvedic approach in the management of spinocerebellar ataxia-2. ( 27143801 )
2016
46
Pattern of Peripheral Nerve Involvement in Spinocerebellar Ataxia Type 2: a Neurophysiological Assessment. ( 26708559 )
2016
47
Spinocerebellar ataxia type 2: Measures of saccade changes improve power for clinical trials. ( 26846400 )
2016
48
Central motor conduction time as prodromal biomarker in spinocerebellar ataxia type 2. ( 26880026 )
2016
49
Cognitive Deficits Correlate with White Matter Deterioration in Spinocerebellar Ataxia Type 2. ( 26888086 )
2016
50
Generation of spinocerebellar ataxia type 2 patient-derived iPSC line H271. ( 27345803 )
2016

Variations for Spinocerebellar Ataxia 2

ClinVar genetic disease variations for Spinocerebellar Ataxia 2:

6 (show all 21)
# 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(?31)(?31 CAG repeats) undetermined variant Benign
3 ATXN2 NM_002973.3: c.496_498CAG([33_?]) NT expansion Pathogenic,risk factor
4 ATXN2 NM_002973.3(ATXN2): c.319C> G (p.Leu107Val) single nucleotide variant Benign/Likely benign rs695871 GRCh37 Chromosome 12, 112037000: 112037000
5 ATXN2 NM_002973.3(ATXN2): c.319C> G (p.Leu107Val) single nucleotide variant Benign/Likely benign rs695871 GRCh38 Chromosome 12, 111599196: 111599196
6 ATXN2 NM_002973.3(ATXN2): c.390C> T (p.Arg130=) single nucleotide variant Benign/Likely benign rs695872 GRCh37 Chromosome 12, 112036929: 112036929
7 ATXN2 NM_002973.3(ATXN2): c.390C> T (p.Arg130=) single nucleotide variant Benign/Likely benign rs695872 GRCh38 Chromosome 12, 111599125: 111599125
8 ATXN2 NM_002973.3(ATXN2): c.522G> A (p.Gln174=) single nucleotide variant Likely benign rs4098854 GRCh37 Chromosome 12, 112036797: 112036797
9 ATXN2 NM_002973.3(ATXN2): c.522G> A (p.Gln174=) single nucleotide variant Likely benign rs4098854 GRCh38 Chromosome 12, 111598993: 111598993
10 ATXN2 NM_002973.3(ATXN2): c.3517-12G> A single nucleotide variant Likely benign rs2073950 GRCh37 Chromosome 12, 111894072: 111894072
11 ATXN2 NM_002973.3(ATXN2): c.3517-12G> A single nucleotide variant Likely benign rs2073950 GRCh38 Chromosome 12, 111456268: 111456268
12 ATXN2 NM_002973.3(ATXN2): c.769-11_769-10insT insertion Benign rs377363486 GRCh37 Chromosome 12, 111992031: 111992032
13 ATXN2 NM_002973.3(ATXN2): c.769-11_769-10insT insertion Benign rs377363486 GRCh38 Chromosome 12, 111554227: 111554228
14 ATXN2 NM_002973.3(ATXN2): c.769-11delT deletion Likely benign rs144235483 GRCh37 Chromosome 12, 111992032: 111992032
15 ATXN2 NM_002973.3(ATXN2): c.769-11delT deletion Likely benign rs144235483 GRCh38 Chromosome 12, 111554228: 111554228
16 ATXN2 NM_002973.3(ATXN2): c.563_565delAGC (p.Gln188del) deletion Likely benign rs10560189 GRCh37 Chromosome 12, 112036754: 112036756
17 ATXN2 NM_002973.3(ATXN2): c.563_565delAGC (p.Gln188del) deletion Likely benign rs10560189 GRCh38 Chromosome 12, 111598950: 111598952
18 ATXN2 NM_002973.3(ATXN2): c.540G> A (p.Gln180=) single nucleotide variant Likely benign rs3906245 GRCh37 Chromosome 12, 112036779: 112036779
19 ATXN2 NM_002973.3(ATXN2): c.540G> A (p.Gln180=) single nucleotide variant Likely benign rs3906245 GRCh38 Chromosome 12, 111598975: 111598975
20 ATXN2 NM_002973.3(ATXN2): c.537A> G (p.Gln179=) single nucleotide variant Likely benign rs76696028 GRCh37 Chromosome 12, 112036782: 112036782
21 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 neuromuscular process controlling balance GO:0050885 9.26 CACNA1A RBFOX1
3 RNA transport GO:0050658 8.96 ATXN2 RBFOX1
4 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
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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