SCA42
MCID: SPN383
MIFTS: 33

Spinocerebellar Ataxia 42 (SCA42)

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 42

MalaCards integrated aliases for Spinocerebellar Ataxia 42:

Name: Spinocerebellar Ataxia 42 57 72 29 6
Sca42 57 58 72
Spinocerebellar Ataxia Type 42 58 17

Characteristics:

Orphanet epidemiological data:

58
spinocerebellar ataxia type 42
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood,Elderly;

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
slow progression
variable age at onset (range 9 to 78 years)

Inheritance:
autosomal dominant


HPO:

31
spinocerebellar ataxia 42:
Inheritance autosomal dominant inheritance
Onset and clinical course slow progression


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Spinocerebellar Ataxia 42

UniProtKB/Swiss-Prot : 72 Spinocerebellar ataxia 42: A form of spinocerebellar ataxia, 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. SCA42 is a slowly progressive, autosomal dominant form with variable severity.

MalaCards based summary : Spinocerebellar Ataxia 42, also known as sca42, is related to spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits and ataxia and polyneuropathy, adult-onset. An important gene associated with Spinocerebellar Ataxia 42 is CACNA1G (Calcium Voltage-Gated Channel Subunit Alpha1 G). Affiliated tissues include cerebellum, eye and spinal cord, and related phenotypes are dysarthria and unsteady gait

OMIM® : 57 Spinocerebellar ataxia-42 is an autosomal dominant neurologic disorder characterized predominantly by gait instability and additional cerebellar signs such as dysarthria, nystagmus, and saccadic pursuits. The age at onset and severity of the disorder is highly variable; it is slowly progressive (summary by Coutelier et al., 2015). For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400). (616795) (Updated 05-Apr-2021)

Related Diseases for Spinocerebellar Ataxia 42

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

# Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits 11.7
2 ataxia and polyneuropathy, adult-onset 10.3
3 autosomal dominant cerebellar ataxia 10.3
4 cerebellar ataxia type 42 10.0
5 cerebellar degeneration 10.0
6 hypotonia 10.0
7 tremor 10.0
8 parkinsonism 9.9
9 dystonia 9.9

Graphical network of the top 20 diseases related to Spinocerebellar Ataxia 42:



Diseases related to Spinocerebellar Ataxia 42

Symptoms & Phenotypes for Spinocerebellar Ataxia 42

Human phenotypes related to Spinocerebellar Ataxia 42:

58 31 (show all 38)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysarthria 58 31 very rare (1%) Very frequent (99-80%) HP:0001260
2 unsteady gait 58 31 very rare (1%) Very frequent (99-80%) HP:0002317
3 neurodevelopmental abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0012759
4 depressivity 58 31 very rare (1%) Frequent (79-30%) HP:0000716
5 dysphagia 58 31 very rare (1%) Frequent (79-30%) HP:0002015
6 gait ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002066
7 babinski sign 58 31 very rare (1%) Frequent (79-30%) HP:0003487
8 cerebellar atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0001272
9 cerebellar vermis atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0006855
10 spastic gait 58 31 very rare (1%) Frequent (79-30%) HP:0002064
11 saccadic smooth pursuit 58 31 very rare (1%) Frequent (79-30%) HP:0001152
12 urinary urgency 58 31 very rare (1%) Frequent (79-30%) HP:0000012
13 gaze-evoked horizontal nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0007979
14 impaired vibration sensation at ankles 58 31 very rare (1%) Frequent (79-30%) HP:0006938
15 eyelid myokymia 58 31 occasional (7.5%) Frequent (79-30%) HP:0031166
16 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
17 diplopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000651
18 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
19 vertigo 58 31 occasional (7.5%) Occasional (29-5%) HP:0002321
20 head tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0002346
21 impotence 58 31 occasional (7.5%) Occasional (29-5%) HP:0000802
22 psoriasiform dermatitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0003765
23 urinary incontinence 58 31 very rare (1%) Occasional (29-5%) HP:0000020
24 atrophy/degeneration affecting the brainstem 58 31 occasional (7.5%) Occasional (29-5%) HP:0007366
25 resting tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0002322
26 hyperintensity of cerebral white matter on mri 58 31 occasional (7.5%) Occasional (29-5%) HP:0030890
27 hypometric saccades 58 31 occasional (7.5%) Occasional (29-5%) HP:0000571
28 upper limb postural tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0007351
29 alzheimer disease 58 31 occasional (7.5%) Occasional (29-5%) HP:0002511
30 reduced brain n-acetyl aspartate level by mrs 58 31 occasional (7.5%) Occasional (29-5%) HP:0012708
31 hyperreflexia 31 occasional (7.5%) HP:0001347
32 tremor 31 occasional (7.5%) HP:0001337
33 nystagmus 58 Occasional (29-5%)
34 cognitive impairment 31 HP:0100543
35 abnormal cerebellum morphology 58 Very frequent (99-80%)
36 spastic ataxia 31 HP:0002497
37 horizontal nystagmus 31 HP:0000666
38 loss of purkinje cells in the cerebellar vermis 31 HP:0007001

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
nystagmus
diplopia
saccadic pursuit

Abdomen Gastrointestinal:
dysphagia (in some patients)

Neurologic Peripheral Nervous System:
decreased distal vibratory sense (in some patients)

Neurologic Central Nervous System:
dysarthria
cerebellar atrophy
spasticity (in some patients)
spinocerebellar ataxia
tremor (in some patients)
more
Genitourinary Bladder:
urinary urgency (in some patients)

Clinical features from OMIM®:

616795 (Updated 05-Apr-2021)

Drugs & Therapeutics for Spinocerebellar Ataxia 42

Search Clinical Trials , NIH Clinical Center for Spinocerebellar Ataxia 42

Genetic Tests for Spinocerebellar Ataxia 42

Genetic tests related to Spinocerebellar Ataxia 42:

# Genetic test Affiliating Genes
1 Spinocerebellar Ataxia 42 29 CACNA1G

Anatomical Context for Spinocerebellar Ataxia 42

MalaCards organs/tissues related to Spinocerebellar Ataxia 42:

40
Cerebellum, Eye, Spinal Cord, Brain

Publications for Spinocerebellar Ataxia 42

Articles related to Spinocerebellar Ataxia 42:

(show all 11)
# Title Authors PMID Year
1
A mutation in the low voltage-gated calcium channel CACNA1G alters the physiological properties of the channel, causing spinocerebellar ataxia. 57 6
26715324 2015
2
A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia. 6 57
26456284 2015
3
Early-onset severe spinocerebellar ataxia 42 with neurodevelopmental deficits (SCA42ND): Case report, pharmacological trial, and literature review. 61
33098379 2021
4
Zonisamide can ameliorate the voltage-dependence alteration of the T-type calcium channel CaV3.1 caused by a mutation responsible for spinocerebellar ataxia. 61
33243296 2020
5
Infantile-Onset Syndromic Cerebellar Ataxia and CACNA1G Mutations. 61
31836334 2020
6
Congenetic Hybrids Derived from Dearomatized Isoprenylated Acylphloroglucinol with Opposite Effects on Cav3.1 Low Voltage-Gated Ca2+ Channel. 61
31999455 2020
7
Ataxic phenotype with altered CaV3.1 channel property in a mouse model for spinocerebellar ataxia 42. 61
31229688 2019
8
Treatment of intractable resting tremor of spinocerebellar ataxia 42 with zonisamide. 61
30448718 2019
9
A case of a novel CACNA1G mutation from a Chinese family with SCA42: A case report and literature review. 61
30200108 2018
10
SCA42 mutation analysis in a case series of Japanese patients with spinocerebellar ataxia. 61
28490766 2017
11
Instability of syllable repetition in patients with spinocerebellar ataxia and Parkinson's disease. 61
22109901 2012

Variations for Spinocerebellar Ataxia 42

ClinVar genetic disease variations for Spinocerebellar Ataxia 42:

6 (show all 18)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CACNA1G NM_018896.5(CACNA1G):c.5144G>A (p.Arg1715His) SNV Pathogenic 221981 rs755221106 GRCh37: 17:48694921-48694921
GRCh38: 17:50617560-50617560
2 CACNA1G NM_018896.5(CACNA1G):c.5144G>A (p.Arg1715His) SNV Pathogenic 221981 rs755221106 GRCh37: 17:48694921-48694921
GRCh38: 17:50617560-50617560
3 CACNA1G NM_018896.5(CACNA1G):c.632T>C (p.Leu211Pro) SNV Likely pathogenic 974856 GRCh37: 17:48649284-48649284
GRCh38: 17:50571923-50571923
4 CACNA1G NM_018896.5(CACNA1G):c.1654T>C (p.Ser552Pro) SNV Uncertain significance 1030677 GRCh37: 17:48653417-48653417
GRCh38: 17:50576056-50576056
5 CACNA1G NM_018896.5(CACNA1G):c.4028G>A (p.Arg1343Gln) SNV Uncertain significance 1030678 GRCh37: 17:48680419-48680419
GRCh38: 17:50603058-50603058
6 CACNA1G NM_018896.5(CACNA1G):c.5230G>A (p.Gly1744Arg) SNV Uncertain significance 1030680 GRCh37: 17:48695412-48695412
GRCh38: 17:50618051-50618051
7 CACNA1G NM_018896.5(CACNA1G):c.6944C>T (p.Pro2315Leu) SNV Uncertain significance 1030681 GRCh37: 17:48703922-48703922
GRCh38: 17:50626561-50626561
8 CACNA1G NM_018896.5(CACNA1G):c.2407A>C (p.Ile803Leu) SNV Uncertain significance 1033911 GRCh37: 17:48667937-48667937
GRCh38: 17:50590576-50590576
9 CACNA1G NM_018896.5(CACNA1G):c.2911G>T (p.Glu971Ter) SNV Uncertain significance 1033912 GRCh37: 17:48672354-48672354
GRCh38: 17:50594993-50594993
10 CACNA1G NM_018896.5(CACNA1G):c.7088T>C (p.Leu2363Pro) SNV Uncertain significance 1033913 GRCh37: 17:48704066-48704066
GRCh38: 17:50626705-50626705
11 CACNA1G NM_018896.5(CACNA1G):c.4972T>C (p.Ser1658Pro) SNV Uncertain significance 548604 rs1555565684 GRCh37: 17:48693696-48693696
GRCh38: 17:50616335-50616335
12 CACNA1G NM_018896.5(CACNA1G):c.344G>A (p.Arg115Gln) SNV Uncertain significance 587452 rs781240948 GRCh37: 17:48646332-48646332
GRCh38: 17:50568971-50568971
13 CACNA1G NM_018896.5(CACNA1G):c.544G>C (p.Val182Leu) SNV Uncertain significance 587511 rs1567964995 GRCh37: 17:48647122-48647122
GRCh38: 17:50569761-50569761
14 CACNA1G NM_018896.5(CACNA1G):c.1931G>A (p.Cys644Tyr) SNV Uncertain significance 634620 rs200203979 GRCh37: 17:48655555-48655555
GRCh38: 17:50578194-50578194
15 CACNA1G NM_018896.5(CACNA1G):c.3278C>T (p.Pro1093Leu) SNV Uncertain significance 638515 rs1422686570 GRCh37: 17:48676808-48676808
GRCh38: 17:50599447-50599447
16 CACNA1G NM_018896.5(CACNA1G):c.1888A>T (p.Ser630Cys) SNV Uncertain significance 977088 GRCh37: 17:48653651-48653651
GRCh38: 17:50576290-50576290
17 CACNA1G NM_018896.5(CACNA1G):c.3167C>T (p.Thr1056Met) SNV Likely benign 634506 rs555798090 GRCh37: 17:48674193-48674193
GRCh38: 17:50596832-50596832
18 CACNA1G NM_018896.5(CACNA1G):c.1471G>T (p.Val491Phe) SNV not provided 972947 GRCh37: 17:48653234-48653234
GRCh38: 17:50575873-50575873

UniProtKB/Swiss-Prot genetic disease variations for Spinocerebellar Ataxia 42:

72
# Symbol AA change Variation ID SNP ID
1 CACNA1G p.Arg1715His VAR_076292 rs755221106

Expression for Spinocerebellar Ataxia 42

Search GEO for disease gene expression data for Spinocerebellar Ataxia 42.

Pathways for Spinocerebellar Ataxia 42

GO Terms for Spinocerebellar Ataxia 42

Sources for Spinocerebellar Ataxia 42

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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