SCA6
MCID: SPN309
MIFTS: 58

Spinocerebellar Ataxia 6 (SCA6)

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 6

MalaCards integrated aliases for Spinocerebellar Ataxia 6:

Name: Spinocerebellar Ataxia 6 57 20 72 13
Spinocerebellar Ataxia Type 6 12 25 20 43 58 29 54 6 15 70
Sca6 57 25 20 43 58 72
Ataxia, Spinocerebellar, Type 6 39
Type 6 Spinocerebellar Ataxia 43

Characteristics:

Orphanet epidemiological data:

58
spinocerebellar ataxia type 6
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Worldwide),1-9/100000 (Japan); Age of onset: Adolescent,Adult,Elderly; Age of death: normal life expectancy;

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
genetic anticipation
progressive disorder
age of onset 20-65 years
normal alleles have 4 to 18 repeats
pathogenic alleles have 19 to 33 repeats

Inheritance:
autosomal dominant


HPO:

31
spinocerebellar ataxia 6:
Inheritance autosomal dominant inheritance genetic anticipation
Onset and clinical course progressive


GeneReviews:

25
Penetrance Penetrance is nearly 100%, although symptoms may not appear until the seventh decade.

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0050956
OMIM® 57 183086
OMIM Phenotypic Series 57 PS164400
MeSH 44 D020754
ICD10 via Orphanet 33 G11.2
UMLS via Orphanet 71 C0752124
Orphanet 58 ORPHA98758
MedGen 41 C0752124
UMLS 70 C0752124

Summaries for Spinocerebellar Ataxia 6

GARD : 20 Spinocerebellar ataxia type 6 (SCA6) is a neurological condition characterized by progressive problems with movement. Initial symptoms include problems with coordination and balance ( ataxia ). Other early signs and symptoms include speech difficulties ( dysarthria ), involuntary eye movements ( nystagmus ), and double vision. Over time, individuals with SCA6 may develop loss of coordination in their arms, tremors, and uncontrolled muscle tensing ( dystonia ). The signs and symptoms of SCA6 typically begin in a person's forties or fifties. Most people with this disorder require wheelchair assistance by the time they are in their sixties. Spinocerebellar ataxia type 6 is caused by mutations in the CACNA1A gene. This condition is inherited in an autosomal dominant pattern.

MalaCards based summary : Spinocerebellar Ataxia 6, also known as spinocerebellar ataxia type 6, is related to olivopontocerebellar atrophy and spinocerebellar ataxia 1, and has symptoms including cerebellar ataxia An important gene associated with Spinocerebellar Ataxia 6 is CACNA1A (Calcium Voltage-Gated Channel Subunit Alpha1 A), and among its related pathways/superpathways are ERK Signaling and PEDF Induced Signaling. The drugs Dopamine and Dopamine agonists have been mentioned in the context of this disorder. Affiliated tissues include eye, cerebellum and spinal cord, and related phenotypes are gait ataxia and unsteady gait

Disease Ontology : 12 An autosomal dominant cerebellar ataxia that is characterized by progresive ataxia, has material basis in mutation in the CACNA1A gene.

MedlinePlus Genetics : 43 Spinocerebellar ataxia type 6 (SCA6) 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 SCA6 include speech difficulties, involuntary eye movements (nystagmus), and double vision. Over time, individuals with SCA6 may develop loss of coordination in their arms, tremors, and uncontrolled muscle tensing (dystonia).Signs and symptoms of SCA6 typically begin in a person's forties or fifties but can appear anytime from childhood to late adulthood. Most people with this disorder require wheelchair assistance by the time they are in their sixties.

UniProtKB/Swiss-Prot : 72 Spinocerebellar ataxia 6: 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 degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA6 is an autosomal dominant cerebellar ataxia (ADCA), mainly caused by expansion of a CAG repeat in the coding region of CACNA1A. There seems to be a correlation between the repeat number and earlier onset of the disorder.

Wikipedia : 73 Spinocerebellar ataxia type 6 (SCA6) is a rare, late-onset, autosomal dominant disorder, which, like... more...

More information from OMIM: 183086 PS164400
GeneReviews: NBK1140

Related Diseases for Spinocerebellar Ataxia 6

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

(show top 50) (show all 143)
# Related Disease Score Top Affiliating Genes
1 olivopontocerebellar atrophy 31.0 CACNA1A ATXN7 ATXN2
2 spinocerebellar ataxia 1 30.7 PRKCG PPP2R2B CACNA1A ATXN8OS ATXN7 ATXN2
3 sporadic hemiplegic migraine 30.6 SCN1A CACNA1A ATP1A2
4 episodic ataxia, type 6 30.6 CACNB4 CACNA1A ATXN7
5 familial or sporadic hemiplegic migraine 30.4 SCN1A CACNA1A ATP1A2
6 familial adult myoclonic epilepsy 30.4 CACNA1A ATXN8OS ATXN10
7 spinocerebellar degeneration 30.4 ATXN2 ATXN1
8 migraine with aura 30.3 SCN1A KCNA1 CACNA1B CACNA1A ATP1A2
9 restless legs syndrome 30.3 CACNA1A ATXN7 ATXN2 ATXN1
10 familial hemiplegic migraine 30.2 SCN1A KCNA1 CACNA1S CACNA1B CACNA1A ATP1A2
11 spinocerebellar ataxia 31 30.1 CACNA1A ATXN10
12 machado-joseph disease 30.1 PPP2R2B CACNA1A ATXN8OS ATXN7 ATXN2 ATXN10
13 spinocerebellar ataxia 8 29.8 PPP2R2B ATXN8OS ATXN7 ATXN2 ATXN10 ATXN1
14 spinocerebellar ataxia 2 29.8 CACNA1A ATXN8OS ATXN7 ATXN2 ATN1
15 parkinson disease, late-onset 29.8 PPP2R2B CACNA1A ATXN8OS ATXN7 ATXN2 ATXN10
16 epilepsy 29.7 SCN1A KCNA1 CACNB4 CACNA1C CACNA1A ATP1A2
17 dystonia 29.7 PRKCG CACNA1B CACNA1A ATXN7 ATXN1 ATN1
18 dentatorubral-pallidoluysian atrophy 29.6 PRKCG PPP2R2B CACNA1A ATXN8OS ATXN7 ATXN2
19 autosomal dominant cerebellar ataxia 29.6 PRKCG PPP2R2B LOC108663985 KCNA1 CACNA1C CACNA1A
20 friedreich ataxia 29.6 PPP2R2B CACNA1A ATXN8OS ATXN2 ATXN10 ATXN1
21 migraine, familial hemiplegic, 1 29.4 SCN1A KCNA1 CAV2 CACNA1S CACNA1E CACNA1B
22 cerebellar disease 29.2 PRKCG PPP2R2B CACNA1A ATXN8OS ATXN7 ATXN2
23 hereditary ataxia 29.1 PRKCG PPP2R2B KCNA1 CACNB4 CACNA1A ATXN8OS
24 migraine with or without aura 1 29.1 SCN1A KCNA1 CAV2 CACNB4 CACNA1S CACNA1E
25 episodic ataxia, type 2 28.6 SCN1A PRKCG LOC108663985 KCNA1 CAV2 CACNB4
26 episodic ataxia 28.6 SCN1A PRKCG PPP2R2B LOC108663985 KCNA1 CAV2
27 spinocerebellar ataxia, autosomal recessive 6 11.3
28 spinocerebellar ataxia 26 11.0
29 spinocerebellar ataxia 25 10.9
30 ataxia and polyneuropathy, adult-onset 10.6
31 hereditary episodic ataxia 10.4 KCNA1 CACNA1A
32 tremor 10.4
33 episodic ataxia, type 7 10.4 KCNA1 CACNA1A
34 tactile agnosia 10.4 PPP2R2B ATXN7
35 episodic ataxia, type 5 10.3 CACNB4 CACNA1A ATP1A2
36 episodic ataxia, type 1 10.3 KCNA1 CACNB4 CACNA1A
37 cerebellar ataxia type 42 10.3 CACNA1B CACNA1A
38 migraine, familial hemiplegic, 2 10.3 SCN1A CACNA1A ATP1A2
39 infancy electroclinical syndrome 10.3 SCN1A CACNA1A ATP1A2
40 mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance 10.3 CACNA1A ATXN7 ATXN2
41 adolescence-adult electroclinical syndrome 10.3 SCN1A CACNB4 CACNA1A
42 neonatal period electroclinical syndrome 10.3 SCN1A KCNA1 CACNA1A
43 childhood electroclinical syndrome 10.3 SCN1A CACNB4 CACNA1A
44 benign neonatal seizures 10.3 SCN1A KCNA1 CACNB4
45 migraine without aura 10.3 SCN1A CACNA1A ATP1A2
46 movement disease 10.3
47 paroxysmal extreme pain disorder 10.3 SCN1A CACNA1B CACNA1A
48 neuropathy, hereditary sensory and autonomic, type vii 10.3 CACNA1S CACNA1A
49 cerebellar ataxia type 9 10.3 PPP2R2B ATXN7 ATXN10
50 hemiplegia 10.3 SCN1A CACNA1A ATP1A2

Graphical network of the top 20 diseases related to Spinocerebellar Ataxia 6:



Diseases related to Spinocerebellar Ataxia 6

Symptoms & Phenotypes for Spinocerebellar Ataxia 6

Human phenotypes related to Spinocerebellar Ataxia 6:

58 31 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 gait ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002066
2 unsteady gait 58 31 hallmark (90%) Very frequent (99-80%) HP:0002317
3 intention tremor 58 31 hallmark (90%) Very frequent (99-80%) HP:0002080
4 progressive cerebellar ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002073
5 postural instability 58 31 hallmark (90%) Very frequent (99-80%) HP:0002172
6 incoordination 58 31 hallmark (90%) Very frequent (99-80%) HP:0002311
7 gaze-evoked horizontal nystagmus 58 31 hallmark (90%) Very frequent (99-80%) HP:0007979
8 bradyopsia 58 31 hallmark (90%) Very frequent (99-80%) HP:0030511
9 hyperreflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001347
10 diplopia 58 31 frequent (33%) Frequent (79-30%) HP:0000651
11 dysphagia 58 31 frequent (33%) Frequent (79-30%) HP:0002015
12 babinski sign 58 31 frequent (33%) Frequent (79-30%) HP:0003487
13 choking episodes 58 31 frequent (33%) Frequent (79-30%) HP:0030842
14 vertical nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0010544
15 dysarthria 58 31 occasional (7.5%) Occasional (29-5%) HP:0001260
16 blepharospasm 58 31 occasional (7.5%) Occasional (29-5%) HP:0000643
17 migraine 31 occasional (7.5%) HP:0002076
18 nystagmus 58 Very frequent (99-80%)
19 abnormality of vision 58 Frequent (79-30%)
20 sensory neuropathy 31 HP:0000763
21 dystonia 58 Occasional (29-5%)
22 cerebellar atrophy 31 HP:0001272
23 abnormal vestibulo-ocular reflex 31 HP:0007670
24 impaired smooth pursuit 31 HP:0007772
25 gaze-evoked nystagmus 31 HP:0000640

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
dysarthria
dysphagia
cerebellar atrophy
cerebellar ataxia
hemiplegic migraine in some patients
more
Neurologic Peripheral Nervous System:
sensory neuropathy (not a prominent feature)

Head And Neck Eyes:
impaired smooth pursuit
gaze-evoked nystagmus
abnormal vestibuloocular reflex (vor)

Clinical features from OMIM®:

183086 (Updated 05-Apr-2021)

UMLS symptoms related to Spinocerebellar Ataxia 6:


cerebellar ataxia

MGI Mouse Phenotypes related to Spinocerebellar Ataxia 6:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.33 ATN1 ATP1A2 ATXN1 ATXN2 ATXN7 CACNA1A
2 growth/size/body region MP:0005378 10.2 ATN1 ATP1A2 ATXN1 ATXN2 ATXN7 CACNA1A
3 cardiovascular system MP:0005385 10.07 ATN1 ATP1A2 CACNA1B CACNA1C CACNA1F CACNA1S
4 homeostasis/metabolism MP:0005376 10.07 ATN1 ATP1A2 ATXN1 ATXN10 ATXN2 CACNA1A
5 mortality/aging MP:0010768 9.97 ATN1 ATP1A2 ATXN1 ATXN10 ATXN2 ATXN7
6 muscle MP:0005369 9.61 ATP1A2 ATXN1 ATXN7 CACNA1A CACNA1C CACNA1S
7 nervous system MP:0003631 9.5 ATN1 ATP1A2 ATXN1 ATXN2 ATXN7 CACNA1A

Drugs & Therapeutics for Spinocerebellar Ataxia 6

Drugs for Spinocerebellar Ataxia 6 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved 62-31-7, 51-61-6 681
2 Dopamine agonists

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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
2 Characterization of the Parkinsonism and Other Non-ataxia Spectrum and Striatal Dopaminergic Degeneration in Spinocerebellar Ataxia Type 6 Completed NCT01934998

Search NIH Clinical Center for Spinocerebellar Ataxia 6

Genetic Tests for Spinocerebellar Ataxia 6

Genetic tests related to Spinocerebellar Ataxia 6:

# Genetic test Affiliating Genes
1 Spinocerebellar Ataxia Type 6 29 CACNA1A

Anatomical Context for Spinocerebellar Ataxia 6

MalaCards organs/tissues related to Spinocerebellar Ataxia 6:

40
Eye, Cerebellum, Spinal Cord, Brain, Cortex, Lung

Publications for Spinocerebellar Ataxia 6

Articles related to Spinocerebellar Ataxia 6:

(show top 50) (show all 342)
# Title Authors PMID Year
1
Phenotypes of spinocerebellar ataxia type 6 and familial hemiplegic migraine caused by a unique CACNA1A missense mutation in patients from a large family. 61 25 54 6 57
12707077 2003
2
Japanese families with autosomal dominant pure cerebellar ataxia map to chromosome 19p13.1-p13.2 and are strongly associated with mild CAG expansions in the spinocerebellar ataxia type 6 gene in chromosome 19p13.1. 61 54 57 6 25
9311738 1997
3
Molecular features of the CAG repeats of spinocerebellar ataxia 6 (SCA6). 25 61 57 6 54
9259274 1997
4
Progressive ataxia due to a missense mutation in a calcium-channel gene. 25 57 6 61
9345107 1997
5
Pathogenic expansions of the SCA6 locus are associated with a common CACNA1A haplotype across the globe: founder effect or predisposing chromosome? 57 6 54 61
18285829 2008
6
SCA6 is caused by moderate CAG expansion in the alpha1A-voltage-dependent calcium channel gene. 57 25 6
9259275 1997
7
Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. 25 6 57
8988170 1997
8
Deficit of heat shock transcription factor 1-heat shock 70 kDa protein 1A axis determines the cell death vulnerability in a model of spinocerebellar ataxia type 6. 57 6 61
19817876 2009
9
C-termini of P/Q-type Ca2+ channel alpha1A subunits translocate to nuclei and promote polyglutamine-mediated toxicity. 57 61 6
16595610 2006
10
Spinocerebellar ataxia type 6: gaze-evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset. 61 57 54 25
9403487 1997
11
Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p. 54 25 57 61
9302278 1997
12
Second cistron in CACNA1A gene encodes a transcription factor mediating cerebellar development and SCA6. 61 25 6
23827678 2013
13
Molecular epidemiology of spinocerebellar ataxia type 6. 61 25 57
15122720 2004
14
A clinical and genetic study in a large cohort of patients with spinocerebellar ataxia type 6. 57 25 61
15362569 2004
15
Neuropathological and molecular studies of spinocerebellar ataxia type 6 (SCA6). 6 61 25
9498057 1998
16
Spinocerebellar ataxia type 6: genotype and phenotype in German kindreds. 57 25 61
9436730 1998
17
Impaired eye movements in presymptomatic spinocerebellar ataxia type 6. 57 54 61
18413478 2008
18
Pathogenic effect of an intermediate-size SCA-6 allele (CAG)(19) in a homozygous patient. 25 57
11673601 2001
19
Autosomal dominant cerebellar ataxia: phenotypic differences in genetically defined subtypes? 57 25
9403486 1997
20
Spinocerebellar ataxia type 6 knockin mice develop a progressive neuronal dysfunction with age-dependent accumulation of mutant CaV2.1 channels. 61 57
18687887 2008
21
Molecular pathogenesis of spinocerebellar ataxia type 6. 61 54 25
17395139 2007
22
Early-onset progressive ataxia associated with the first CACNA1A mutation identified within the I-II loop. 25 61 54
17292920 2007
23
Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A gene. 54 25 61
16325861 2006
24
Clinical and molecular correlations in spinocerebellar ataxia type 6: a study of 24 Dutch families. 61 57
11708993 2001
25
Frequency analysis of autosomal dominant cerebellar ataxias in Taiwanese patients and clinical and molecular characterization of spinocerebellar ataxia type 6. 57 61
11448300 2001
26
Predisposing chromosome for spinocerebellar ataxia type 6 (SCA6) in Japanese. 61 57
11403042 2001
27
Metabolic characterization of spinocerebellar ataxia type 6. 57 61
11176970 2001
28
Spinocerebellar ataxia type 6 mutation alters P-type calcium channel function. 61 6
10753886 2000
29
Abundant expression and cytoplasmic aggregations of [alpha]1A voltage-dependent calcium channel protein associated with neurodegeneration in spinocerebellar ataxia type 6. 61 57
10369863 1999
30
Calcium channelopathies in the central nervous system. 25 54 61
10395579 1999
31
Spinocerebellar ataxia type 6: evidence for a strong founder effect among German families. 57 61
10078738 1999
32
Molecular analysis of a de novo mutation for spinocerebellar ataxia type 6 and (CAG)n repeat units in normal elder controls. 61 54 25
9879686 1998
33
A Japanese family with spinocerebellar ataxia type 6 which includes three individuals homozygous for an expanded CAG repeat in the SCA6/CACNL1A4 gene. 61 57
9702684 1998
34
Frequency analysis of autosomal dominant cerebellar ataxias in Japanese patients and clinical characterization of spinocerebellar ataxia type 6. 61 57
9550356 1998
35
SCA6 mutation analysis in a large cohort of the Japanese patients with late-onset pure cerebellar ataxia. 61 25 54
9559993 1998
36
Spinocerebellar ataxia type 6. Molecular and clinical features of 35 Japanese patients including one homozygous for the CAG repeat expansion. 61 54 25
9371900 1997
37
4-aminopyridine reverses ataxia and cerebellar firing deficiency in a mouse model of spinocerebellar ataxia type 6. 61 25
27381005 2016
38
Spinocerebellar ataxia types 1, 2, 3, and 6: disease severity and nonataxia symptoms. 57
18685131 2008
39
Altered frequency-dependent inactivation and steady-state inactivation of polyglutamine-expanded alpha1A in SCA6. 61 25
17020933 2007
40
The P/Q-type voltage-dependent calcium channel as pharmacological target in spinocerebellar ataxia type 6: gabapentin and pregabalin may be of therapeutic benefit. 61 25
16899342 2007
41
Spectrum and prevalence of autosomal dominant spinocerebellar ataxia in Hokkaido, the northern island of Japan: a study of 113 Japanese families. 57
17805477 2007
42
Restless legs syndrome and motor activity during sleep in spinocerebellar ataxia type 6. 61 25
16931150 2006
43
Evaluation of sleep and daytime somnolence in spinocerebellar ataxia type 6 (SCA6). 61 25
16682680 2006
44
Spinocerebellar ataxia type 6 in Mainland China: molecular and clinical features in four families. 61 25
15979648 2005
45
Radiological characterization of spinocerebellar ataxia type 6. 25 61
16046419 2005
46
CACNA1A mutations causing episodic and progressive ataxia alter channel trafficking and kinetics. 6
15985579 2005
47
Age at onset variance analysis in spinocerebellar ataxias: a study in a Dutch-French cohort. 57
15747371 2005
48
Childhood epilepsy, familial hemiplegic migraine, cerebellar ataxia, and a new CACNA1A mutation. 6
15452324 2004
49
Haplotype study in Dutch SCA3 and SCA6 families: evidence for common founder mutations. 57
15026782 2004
50
Peripheral nerve involvement in spinocerebellar ataxias. 57
14967775 2004

Variations for Spinocerebellar Ataxia 6

ClinVar genetic disease variations for Spinocerebellar Ataxia 6:

6 (show all 34)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LOC108663985 , CACNA1A NM_001127222.2(CACNA1A):c.6937CAG[(21_30)] Microsatellite Pathogenic 562099 rs16054 GRCh37: 19:13318709-13318711
GRCh38: 19:13207895-13207897
2 CACNA1A NM_001127222.2(CACNA1A):c.877G>A (p.Gly293Arg) SNV Pathogenic 8496 rs121908215 GRCh37: 19:13470521-13470521
GRCh38: 19:13359707-13359707
3 CACNA1A NM_001127222.2(CACNA1A):c.1745G>A (p.Arg582Gln) SNV Pathogenic 8505 rs121908217 GRCh37: 19:13419266-13419266
GRCh38: 19:13308452-13308452
4 CACNA1A NM_001127222.2(CACNA1A):c.5123T>C (p.Ile1708Thr) SNV Pathogenic 8510 rs121909326 GRCh37: 19:13346033-13346033
GRCh38: 19:13235219-13235219
5 CACNA1A NM_001127222.2(CACNA1A):c.4633C>T (p.Arg1545Ter) SNV Pathogenic 8507 rs121909324 GRCh37: 19:13366031-13366031
GRCh38: 19:13255217-13255217
6 CACNA1A NM_001127222.2(CACNA1A):c.2134G>A (p.Ala712Thr) SNV Pathogenic 254268 GRCh37: 19:13414398-13414398
GRCh38: 19:13303584-13303584
7 CACNA1A NM_001127222.2(CACNA1A):c.1994C>T (p.Thr665Met) SNV Pathogenic 8488 rs121908212 GRCh37: 19:13414691-13414691
GRCh38: 19:13303877-13303877
8 CACNA1A NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln) SNV Pathogenic 380972 rs1057520918 GRCh37: 19:13373594-13373594
GRCh38: 19:13262780-13262780
9 CACNA1A NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln) SNV Pathogenic 380972 rs1057520918 GRCh37: 19:13373594-13373594
GRCh38: 19:13262780-13262780
10 CACNA1A NM_001127222.2(CACNA1A):c.826G>T (p.Glu276Ter) SNV Pathogenic 1027687 GRCh37: 19:13470572-13470572
GRCh38: 19:13359758-13359758
11 CACNA1A NM_001127222.2(CACNA1A):c.5439dup (p.Glu1814Ter) Duplication Likely pathogenic 976270 GRCh37: 19:13340984-13340985
GRCh38: 19:13230170-13230171
12 CACNA1A NM_023035.3(CACNA1A):c.4186G>A (p.Val1396Met) SNV Likely pathogenic 195935 rs794727411 GRCh37: 19:13372340-13372340
GRCh38: 19:13261526-13261526
13 CACNA1A NM_001127222.2(CACNA1A):c.680T>G (p.Leu227Arg) SNV Likely pathogenic 386109 rs1057522420 GRCh37: 19:13476235-13476235
GRCh38: 19:13365421-13365421
14 CACNA1A NM_001127222.2(CACNA1A):c.2958_2959dup (p.Arg987fs) Duplication Likely pathogenic 451238 rs1555755878 GRCh37: 19:13409487-13409488
GRCh38: 19:13298673-13298674
15 CACNA1A NM_001127222.2(CACNA1A):c.904G>A (p.Asp302Asn) SNV Likely pathogenic 216896 rs863224852 GRCh37: 19:13470494-13470494
GRCh38: 19:13359680-13359680
16 CACNA1A NM_001127222.2(CACNA1A):c.4009G>T (p.Asp1337Tyr) SNV Uncertain significance 617927 rs1568473283 GRCh37: 19:13373628-13373628
GRCh38: 19:13262814-13262814
17 CACNA1A NM_001127222.2(CACNA1A):c.2890C>T (p.Pro964Ser) SNV Uncertain significance 446913 rs1383144531 GRCh37: 19:13409557-13409557
GRCh38: 19:13298743-13298743
18 CACNA1A NM_001127222.2(CACNA1A):c.3006_3008del (p.Arg1004del) Deletion Uncertain significance 638485 rs763302316 GRCh37: 19:13409439-13409441
GRCh38: 19:13298625-13298627
19 CACNA1A NM_001127222.2(CACNA1A):c.6608A>G (p.Lys2203Arg) SNV Uncertain significance 383881 rs1057521770 GRCh37: 19:13319742-13319742
GRCh38: 19:13208928-13208928
20 CACNA1A NM_001127222.2(CACNA1A):c.6505C>T (p.Arg2169Cys) SNV Uncertain significance 421988 rs375354077 GRCh37: 19:13320147-13320147
GRCh38: 19:13209333-13209333
21 CACNA1A NM_001127222.2(CACNA1A):c.6466C>T (p.Arg2156Cys) SNV Uncertain significance 421928 rs554393704 GRCh37: 19:13320186-13320186
GRCh38: 19:13209372-13209372
22 CACNA1A NM_001127222.2(CACNA1A):c.3634G>T (p.Asp1212Tyr) SNV Uncertain significance 432567 rs201269793 GRCh37: 19:13395940-13395940
GRCh38: 19:13285126-13285126
23 CACNA1A NM_001127222.2(CACNA1A):c.3410C>G (p.Pro1137Arg) SNV Uncertain significance 430288 rs200333359 GRCh37: 19:13397460-13397460
GRCh38: 19:13286646-13286646
24 CACNA1A NM_001127222.2(CACNA1A):c.2105-15C>T SNV Uncertain significance 451872 rs190471428 GRCh37: 19:13414442-13414442
GRCh38: 19:13303628-13303628
25 CACNA1A NM_001127222.2(CACNA1A):c.6431C>T (p.Pro2144Leu) SNV Uncertain significance 446939 rs750077868 GRCh37: 19:13320221-13320221
GRCh38: 19:13209407-13209407
26 CACNA1A NM_001127222.2(CACNA1A):c.6125C>T (p.Thr2042Met) SNV Uncertain significance 386521 rs563345694 GRCh37: 19:13323262-13323262
GRCh38: 19:13212448-13212448
27 CACNA1A NM_001127222.2(CACNA1A):c.709A>G (p.Ile237Val) SNV Uncertain significance 1031847 GRCh37: 19:13476206-13476206
GRCh38: 19:13365392-13365392
28 CACNA1A NM_001127222.2(CACNA1A):c.3310_3315dup (p.Gly1104_Pro1105dup) Duplication Uncertain significance 587505 rs776584949 GRCh37: 19:13397554-13397555
GRCh38: 19:13286740-13286741
29 CACNA1A NM_001127222.2(CACNA1A):c.593G>A (p.Arg198Gln) SNV Uncertain significance 210556 rs797045424 GRCh37: 19:13482540-13482540
GRCh38: 19:13371726-13371726
30 CACNA1A NM_001127222.2(CACNA1A):c.2924G>T (p.Arg975Leu) SNV Uncertain significance 453002 rs748418783 GRCh37: 19:13409523-13409523
GRCh38: 19:13298709-13298709
31 CACNA1A NM_001127222.2(CACNA1A):c.7067C>T (p.Thr2356Met) SNV Uncertain significance 1031351 GRCh37: 19:13318581-13318581
GRCh38: 19:13207767-13207767
32 CACNA1A NM_001127222.2(CACNA1A):c.6001C>T (p.Pro2001Ser) SNV Uncertain significance 451126 rs751947412 GRCh37: 19:13323494-13323494
GRCh38: 19:13212680-13212680
33 CACNA1A NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln) SNV not provided 68432 rs121908247 GRCh37: 19:13346507-13346507
GRCh38: 19:13235693-13235693
34 CACNA1A NM_001127222.2(CACNA1A):c.1199A>T (p.Glu400Val) SNV not provided 684467 rs1600353470 GRCh37: 19:13443739-13443739
GRCh38: 19:13332925-13332925

UniProtKB/Swiss-Prot genetic disease variations for Spinocerebellar Ataxia 6:

72
# Symbol AA change Variation ID SNP ID
1 CACNA1A p.Gly293Arg VAR_043825 rs121908215
2 CACNA1A p.Arg582Gln VAR_043826 rs121908217
3 CACNA1A p.Ala405Thr VAR_063685 rs121908245
4 CACNA1A p.Arg1663Gln VAR_063691 rs121908247
5 CACNA1A p.Asp1337Tyr VAR_080738 rs156847328

Expression for Spinocerebellar Ataxia 6

Search GEO for disease gene expression data for Spinocerebellar Ataxia 6.

Pathways for Spinocerebellar Ataxia 6

Pathways related to Spinocerebellar Ataxia 6 according to GeneCards Suite gene sharing:

(show all 49)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.81 PRKCG PPP2R2B CACNB4 CACNA1S CACNA1F CACNA1E
2
Show member pathways
13.67 PRKCG PPP2R2B CACNB4 CACNA1S CACNA1F CACNA1E
3
Show member pathways
13.57 SCN1A PRKCG CACNB4 CACNA1S CACNA1F CACNA1E
4
Show member pathways
13.42 PRKCG CACNA1S CACNA1F CACNA1C CACNA1B ATXN2
5
Show member pathways
13.41 PRKCG CACNB4 CACNA1S CACNA1F CACNA1E CACNA1C
6
Show member pathways
13.33 PRKCG CACNB4 CACNA1S CACNA1F CACNA1E CACNA1C
7
Show member pathways
13.09 PRKCG CACNB4 CACNA1S CACNA1F CACNA1E CACNA1C
8
Show member pathways
13.05 SCN1A PRKCG CACNB4 CACNA1S CACNA1F CACNA1E
9
Show member pathways
13 PRKCG KCNA1 CACNB4 CACNA1E CACNA1B CACNA1A
10
Show member pathways
12.97 PRKCG CACNB4 CACNA1S CACNA1F CACNA1E CACNA1C
11
Show member pathways
12.93 PRKCG CACNB4 CACNA1S CACNA1F CACNA1E CACNA1C
12
Show member pathways
12.9 PRKCG CACNB4 CACNA1S CACNA1F CACNA1E CACNA1C
13
Show member pathways
12.86 PRKCG CACNA1S CACNA1F CACNA1C ATP1A2
14
Show member pathways
12.86 SCN1A CACNB4 CACNA1S CACNA1F CACNA1C ATP1A2
15
Show member pathways
12.81 CAV2 CACNA1S CACNA1F CACNA1C CACNA1B
16
Show member pathways
12.81 PRKCG PPP2R2B CACNA1S CACNA1C CACNA1B CACNA1A
17
Show member pathways
12.78 SCN1A PRKCG PPP2R2B CACNA1S CACNA1F CACNA1C
18 12.76 PRKCG CACNB4 CACNA1S CACNA1F CACNA1E CACNA1C
19
Show member pathways
12.72 CACNB4 CACNA1S CACNA1F CACNA1E CACNA1C CACNA1B
20
Show member pathways
12.61 PRKCG CACNA1S CACNA1F CACNA1C CACNA1B CACNA1A
21
Show member pathways
12.59 PRKCG CACNA1S CACNA1F CACNA1C
22
Show member pathways
12.59 PPP2R2B CACNB4 CACNA1S CACNA1F CACNA1C ATP1A2
23
Show member pathways
12.57 PRKCG CACNA1S CACNA1E CACNA1C CACNA1B CACNA1A
24
Show member pathways
12.5 PRKCG CACNA1S CACNA1C CACNA1B
25
Show member pathways
12.5 PRKCG CACNB4 CACNA1S CACNA1F CACNA1C
26 12.38 PRKCG CACNA1S CACNA1F CACNA1E CACNA1C CACNA1B
27 12.32 CACNA1S CACNA1F CACNA1C ATP1A2
28
Show member pathways
12.25 CACNB4 CACNA1S CACNA1F CACNA1C
29
Show member pathways
12.18 PRKCG CACNB4 CACNA1S CACNA1F CACNA1E CACNA1C
30 12.15 CACNB4 CACNA1S CACNA1F CACNA1C
31 12.11 PRKCG CACNA1A ATXN8OS ATXN2 ATXN10 ATXN1
32 12.06 CACNB4 CACNA1S CACNA1F CACNA1E CACNA1C CACNA1B
33
Show member pathways
12.05 CACNA1S CACNA1C CACNA1B ATP1A2
34
Show member pathways
12 CACNA1B CACNA1A ATP1A2
35
Show member pathways
11.98 CACNB4 CACNA1S CACNA1F CACNA1E CACNA1C CACNA1B
36 11.97 PRKCG CACNA1S CACNA1F CACNA1C CACNA1B CACNA1A
37
Show member pathways
11.92 CACNA1E CACNA1C CACNA1B CACNA1A
38 11.91 CACNB4 CACNA1S CACNA1F CACNA1C ATP1A2
39
Show member pathways
11.82 SCN1A CACNB4 CACNA1S CACNA1F CACNA1C
40 11.77 CACNB4 CACNA1S CACNA1F CACNA1E CACNA1C CACNA1B
41 11.73 PRKCG CACNA1S CACNA1F CACNA1C
42 11.7 CACNA1S CACNA1F CACNA1C
43 11.68 PRKCG PPP2R2B KCNA1 CACNB4 CACNA1S CACNA1F
44 11.41 CACNB4 CACNA1S CACNA1C
45 11.32 CACNB4 CACNA1S CACNA1E CACNA1C CACNA1B CACNA1A
46 11.26 CACNB4 CACNA1S CACNA1F CACNA1E CACNA1C CACNA1B
47 11.17 CACNA1C CACNA1B CACNA1A
48 10.98 CACNA1F CACNA1C
49 10.78 CACNA1E CACNA1C CACNA1B CACNA1A

GO Terms for Spinocerebellar Ataxia 6

Cellular components related to Spinocerebellar Ataxia 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.13 SCN1A PRKCG KCNA1 CAV2 CACNB4 CACNA1S
2 synapse GO:0045202 9.76 PRKCG KCNA1 CACNB4 CACNA1E CACNA1C CACNA1B
3 neuronal cell body GO:0043025 9.73 SCN1A KCNA1 CACNA1F CACNA1A ATXN10 ATP1A2
4 sarcolemma GO:0042383 9.61 CAV2 CACNA1C ATP1A2
5 nuclear matrix GO:0016363 9.58 ATXN7 ATXN1 ATN1
6 calyx of Held GO:0044305 9.46 PRKCG KCNA1
7 L-type voltage-gated calcium channel complex GO:1990454 9.37 CACNA1S CACNA1C
8 T-tubule GO:0030315 9.26 SCN1A CACNA1S CACNA1C ATP1A2
9 voltage-gated calcium channel complex GO:0005891 9.17 CACNB4 CACNA1S CACNA1F CACNA1E CACNA1C CACNA1B

Biological processes related to Spinocerebellar Ataxia 6 according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 10.02 SCN1A KCNA1 CACNB4 CACNA1S CACNA1F CACNA1E
2 transmembrane transport GO:0055085 10.01 SCN1A KCNA1 CACNA1S CACNA1F CACNA1E CACNA1C
3 chemical synaptic transmission GO:0007268 9.91 PRKCG KCNA1 CACNB4 CACNA1E CACNA1B CACNA1A
4 calcium ion transport GO:0006816 9.8 CACNB4 CACNA1S CACNA1F CACNA1E CACNA1C CACNA1B
5 cardiac conduction GO:0061337 9.76 CACNB4 CACNA1S CACNA1F CACNA1C
6 calcium ion transmembrane transport GO:0070588 9.7 CACNB4 CACNA1S CACNA1F CACNA1E CACNA1C CACNA1B
7 cation transmembrane transport GO:0098655 9.67 SCN1A CACNA1A ATP1A2
8 membrane depolarization GO:0051899 9.67 CACNB4 CACNA1E CACNA1B CACNA1A
9 regulation of insulin secretion GO:0050796 9.65 CACNA1E CACNA1C CACNA1A
10 regulation of muscle contraction GO:0006937 9.57 KCNA1 ATP1A2
11 cardiac muscle cell action potential involved in contraction GO:0086002 9.56 SCN1A CACNA1C
12 response to amyloid-beta GO:1904645 9.55 CACNA1B CACNA1A
13 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.54 CACNA1C ATP1A2
14 detection of mechanical stimulus involved in sensory perception of pain GO:0050966 9.52 SCN1A KCNA1
15 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.51 CACNA1C ATP1A2
16 calcium ion import GO:0070509 9.43 CACNA1S CACNA1F CACNA1E CACNA1C CACNA1B CACNA1A
17 regulation of ion transmembrane transport GO:0034765 9.28 SCN1A KCNA1 CACNB4 CACNA1S CACNA1F CACNA1E

Molecular functions related to Spinocerebellar Ataxia 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 9.92 SCN1A KCNA1 CACNA1S CACNA1F CACNA1E CACNA1C
2 calcium channel activity GO:0005262 9.8 CACNB4 CACNA1S CACNA1F CACNA1E CACNA1C CACNA1B
3 voltage-gated calcium channel activity GO:0005245 9.7 CACNB4 CACNA1S CACNA1F CACNA1E CACNA1C CACNA1B
4 voltage-gated ion channel activity GO:0005244 9.61 SCN1A KCNA1 CACNB4 CACNA1S CACNA1F CACNA1E
5 cation channel activity GO:0005261 9.54 SCN1A CACNA1B CACNA1A
6 high voltage-gated calcium channel activity GO:0008331 9.1 CACNB4 CACNA1S CACNA1F CACNA1C CACNA1B CACNA1A

Sources for Spinocerebellar Ataxia 6

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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