MCID: SPN383
MIFTS: 27

Spinocerebellar Ataxia 42

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases, Eye diseases, Mental diseases, Ear diseases, Metabolic diseases, Fetal diseases, Liver diseases

Aliases & Classifications for Spinocerebellar Ataxia 42

MalaCards integrated aliases for Spinocerebellar Ataxia 42:

Name: Spinocerebellar Ataxia 42 57 75 29 6
Sca42 57 59 75
Spinocerebellar Ataxia Type 42 59

Characteristics:

Orphanet epidemiological data:

59
spinocerebellar ataxia type 42
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood,Elderly;

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
spinocerebellar ataxia 42:
Onset and clinical course slow progression
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Spinocerebellar Ataxia 42

UniProtKB/Swiss-Prot : 75 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, is also known as sca42. 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)

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 Type 16
Spinocerebellar Ataxia Type 19/22 Grid2-Related Spinocerebellar Ataxia
Spinocerebellar Ataxia Autosomal Recessive 5

Symptoms & Phenotypes for Spinocerebellar Ataxia 42

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Spinocerebellar Ataxia 42:

59 32 (show all 38)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysarthria 59 32 very rare (1%) Very frequent (99-80%) HP:0001260
2 unsteady gait 59 32 very rare (1%) Very frequent (99-80%) HP:0002317
3 neurodevelopmental abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0012759
4 urinary urgency 59 32 very rare (1%) Frequent (79-30%) HP:0000012
5 depressivity 59 32 very rare (1%) Frequent (79-30%) HP:0000716
6 saccadic smooth pursuit 59 32 very rare (1%) Frequent (79-30%) HP:0001152
7 cerebellar atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0001272
8 dysphagia 59 32 very rare (1%) Frequent (79-30%) HP:0002015
9 spastic gait 59 32 very rare (1%) Frequent (79-30%) HP:0002064
10 gait ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0002066
11 babinski sign 59 32 very rare (1%) Frequent (79-30%) HP:0003487
12 cerebellar vermis atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0006855
13 impaired vibration sensation at ankles 59 32 very rare (1%) Frequent (79-30%) HP:0006938
14 gaze-evoked horizontal nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0007979
15 eyelid myokymia 59 32 occasional (7.5%) Frequent (79-30%) HP:0031166
16 urinary incontinence 59 32 very rare (1%) Occasional (29-5%) HP:0000020
17 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
18 hypometric saccades 59 32 occasional (7.5%) Occasional (29-5%) HP:0000571
19 diplopia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000651
20 impotence 59 32 occasional (7.5%) Occasional (29-5%) HP:0000802
21 vertigo 59 32 occasional (7.5%) Occasional (29-5%) HP:0002321
22 resting tremor 59 32 occasional (7.5%) Occasional (29-5%) HP:0002322
23 head tremor 59 32 occasional (7.5%) Occasional (29-5%) HP:0002346
24 alzheimer disease 59 32 occasional (7.5%) Occasional (29-5%) HP:0002511
25 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
26 psoriasiform dermatitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0003765
27 upper limb postural tremor 59 32 occasional (7.5%) Occasional (29-5%) HP:0007351
28 atrophy/degeneration affecting the brainstem 59 32 occasional (7.5%) Occasional (29-5%) HP:0007366
29 reduced brain n-acetyl aspartate level by mrs 59 32 occasional (7.5%) Occasional (29-5%) HP:0012708
30 hyperintensity of cerebral white matter on mri 59 32 occasional (7.5%) Occasional (29-5%) HP:0030890
31 abnormality of the cerebellum 59 Very frequent (99-80%)
32 nystagmus 59 Occasional (29-5%)
33 horizontal nystagmus 32 HP:0000666
34 tremor 32 occasional (7.5%) HP:0001337
35 hyperreflexia 32 occasional (7.5%) HP:0001347
36 spastic ataxia 32 HP:0002497
37 loss of purkinje cells in the cerebellar vermis 32 HP:0007001
38 cognitive impairment 32 HP:0100543

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:

41
Cerebellum, Eye, Spinal Cord, Brain

Publications for Spinocerebellar Ataxia 42

Variations for Spinocerebellar Ataxia 42

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

75
# 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

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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