SCA42
MCID: SPN383
MIFTS: 32

Spinocerebellar Ataxia 42 (SCA42)

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 42

MalaCards integrated aliases for Spinocerebellar Ataxia 42:

Name: Spinocerebellar Ataxia 42 58 76 30 6
Sca42 58 60 76
Spinocerebellar Ataxia Type 42 60 17

Characteristics:

Orphanet epidemiological data:

60
spinocerebellar ataxia type 42
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood,Elderly;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
slow progression
variable age at onset (range 9 to 78 years)


HPO:

33
spinocerebellar ataxia 42:
Onset and clinical course slow progression
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Spinocerebellar Ataxia 42

UniProtKB/Swiss-Prot : 76 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 neurodevelopmental abnormality

OMIM : 58 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)

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, 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 48
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 12.6
2 ataxia and polyneuropathy, adult-onset 10.1
3 autosomal dominant cerebellar ataxia 10.1
4 tremor 10.1

Symptoms & Phenotypes for Spinocerebellar Ataxia 42

Human phenotypes related to Spinocerebellar Ataxia 42:

60 33 (show all 38)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysarthria 60 33 very rare (1%) Very frequent (99-80%) HP:0001260
2 neurodevelopmental abnormality 60 33 hallmark (90%) Very frequent (99-80%) HP:0012759
3 unsteady gait 60 33 very rare (1%) Very frequent (99-80%) HP:0002317
4 depressivity 60 33 very rare (1%) Frequent (79-30%) HP:0000716
5 dysphagia 60 33 very rare (1%) Frequent (79-30%) HP:0002015
6 gait ataxia 60 33 frequent (33%) Frequent (79-30%) HP:0002066
7 babinski sign 60 33 very rare (1%) Frequent (79-30%) HP:0003487
8 saccadic smooth pursuit 60 33 very rare (1%) Frequent (79-30%) HP:0001152
9 cerebellar atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0001272
10 cerebellar vermis atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0006855
11 urinary urgency 60 33 very rare (1%) Frequent (79-30%) HP:0000012
12 spastic gait 60 33 very rare (1%) Frequent (79-30%) HP:0002064
13 gaze-evoked horizontal nystagmus 60 33 frequent (33%) Frequent (79-30%) HP:0007979
14 impaired vibration sensation at ankles 60 33 very rare (1%) Frequent (79-30%) HP:0006938
15 eyelid myokymia 60 33 occasional (7.5%) Frequent (79-30%) HP:0031166
16 diplopia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000651
17 scoliosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002650
18 strabismus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000486
19 vertigo 60 33 occasional (7.5%) Occasional (29-5%) HP:0002321
20 hyperintensity of cerebral white matter on mri 60 33 occasional (7.5%) Occasional (29-5%) HP:0030890
21 urinary incontinence 60 33 very rare (1%) Occasional (29-5%) HP:0000020
22 atrophy/degeneration affecting the brainstem 60 33 occasional (7.5%) Occasional (29-5%) HP:0007366
23 head tremor 60 33 occasional (7.5%) Occasional (29-5%) HP:0002346
24 impotence 60 33 occasional (7.5%) Occasional (29-5%) HP:0000802
25 hypometric saccades 60 33 occasional (7.5%) Occasional (29-5%) HP:0000571
26 resting tremor 60 33 occasional (7.5%) Occasional (29-5%) HP:0002322
27 psoriasiform dermatitis 60 33 occasional (7.5%) Occasional (29-5%) HP:0003765
28 reduced brain n-acetyl aspartate level by mrs 60 33 occasional (7.5%) Occasional (29-5%) HP:0012708
29 upper limb postural tremor 60 33 occasional (7.5%) Occasional (29-5%) HP:0007351
30 alzheimer disease 60 33 occasional (7.5%) Occasional (29-5%) HP:0002511
31 tremor 33 occasional (7.5%) HP:0001337
32 hyperreflexia 33 occasional (7.5%) HP:0001347
33 nystagmus 60 Occasional (29-5%)
34 cognitive impairment 33 HP:0100543
35 horizontal nystagmus 33 HP:0000666
36 abnormality of the cerebellum 60 Very frequent (99-80%)
37 spastic ataxia 33 HP:0002497
38 loss of purkinje cells in the cerebellar vermis 33 HP:0007001

Symptoms via clinical synopsis from OMIM:

58
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

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 30 CACNA1G

Anatomical Context for Spinocerebellar Ataxia 42

MalaCards organs/tissues related to Spinocerebellar Ataxia 42:

42
Cerebellum, Eye, Spinal Cord, Brain

Publications for Spinocerebellar Ataxia 42

Articles related to Spinocerebellar Ataxia 42:

# Title Authors Year
1
Treatment of intractable resting tremor of spinocerebellar ataxia 42 with zonisamide. ( 30448718 )
2018
2
A case of a novel CACNA1G mutation from a Chinese family with SCA42: A case report and literature review. ( 30200108 )
2018
3
SCA42 mutation analysis in a case series of Japanese patients with spinocerebellar ataxia. ( 28490766 )
2017

Variations for Spinocerebellar Ataxia 42

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

76
# Symbol AA change Variation ID SNP ID
1 CACNA1G p.Arg1715His VAR_076292 rs755221106

ClinVar genetic disease variations for Spinocerebellar Ataxia 42:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CACNA1G NM_018896.4(CACNA1G): c.5144G> A (p.Arg1715His) single nucleotide variant Pathogenic rs755221106 GRCh37 Chromosome 17, 48694921: 48694921
2 CACNA1G NM_018896.4(CACNA1G): c.5144G> A (p.Arg1715His) single nucleotide variant Pathogenic rs755221106 GRCh38 Chromosome 17, 50617560: 50617560
3 CACNA1G NM_198385.2(CACNA1G): c.4972T> C (p.Ser1658Pro) single nucleotide variant Uncertain significance rs1555565684 GRCh38 Chromosome 17, 50616335: 50616335
4 CACNA1G NM_198385.2(CACNA1G): c.4972T> C (p.Ser1658Pro) single nucleotide variant Uncertain significance rs1555565684 GRCh37 Chromosome 17, 48693696: 48693696
5 CACNA1G NM_018896.4(CACNA1G): c.344G> A (p.Arg115Gln) single nucleotide variant Uncertain significance GRCh38 Chromosome 17, 50568971: 50568971
6 CACNA1G NM_018896.4(CACNA1G): c.344G> A (p.Arg115Gln) single nucleotide variant Uncertain significance GRCh37 Chromosome 17, 48646332: 48646332
7 CACNA1G NM_018896.4(CACNA1G): c.544G> C (p.Val182Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 17, 50569761: 50569761
8 CACNA1G NM_018896.4(CACNA1G): c.544G> C (p.Val182Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 17, 48647122: 48647122

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

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