SCA38
MCID: SPN284
MIFTS: 40

Spinocerebellar Ataxia 38 (SCA38)

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 38

MalaCards integrated aliases for Spinocerebellar Ataxia 38:

Name: Spinocerebellar Ataxia 38 57 20 72 29 6 70
Spinocerebellar Ataxia Type 38 12 25 58 15 17
Sca38 57 20 58 72
Ataxia, Spinocerebellar, Type 38 39

Characteristics:

Orphanet epidemiological data:

58
spinocerebellar ataxia type 38
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
slowly progressive
onset between 34 and 51 years of age


HPO:

31
spinocerebellar ataxia 38:
Inheritance autosomal dominant inheritance
Onset and clinical course slow progression


GeneReviews:

25
Penetrance Disease penetrance appears to be complete in both males and females but is age dependent. in individuals with the c.689g>t (p.gly230val) pathogenic variant, sca38 was fully penetrant by age 50 years [borroni et al 2016].

Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0050985
OMIM® 57 615957
OMIM Phenotypic Series 57 PS164400
MeSH 44 D020754
ICD10 via Orphanet 33 G11.8
Orphanet 58 ORPHA423296
UMLS 70 C4014812

Summaries for Spinocerebellar Ataxia 38

UniProtKB/Swiss-Prot : 72 Spinocerebellar ataxia 38: 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. SCA38 is an autosomal dominant form characterized by adult-onset of slowly progressive gait ataxia accompanied by nystagmus. Brain MRI shows cerebellar atrophy.

MalaCards based summary : Spinocerebellar Ataxia 38, also known as spinocerebellar ataxia type 38, is related to autosomal dominant cerebellar ataxia and hereditary ataxia, and has symptoms including gait ataxia and cerebellar ataxia. An important gene associated with Spinocerebellar Ataxia 38 is ELOVL5 (ELOVL Fatty Acid Elongase 5), and among its related pathways/superpathways are Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) and Fatty Acyl-CoA Biosynthesis. The drug Omega 3 Fatty Acid has been mentioned in the context of this disorder. Affiliated tissues include eye, cerebellum and spinal cord, and related phenotypes are nystagmus and dysarthria

Disease Ontology : 12 An autosomal dominant cerebellar ataxia that is characterized by slowly progressive ataxia and nystagmus, presenting in mid-adulthood, and has material basis in mutation to the ELOVL5 gene.

OMIM® : 57 Spinocerebellar ataxia-38 is an autosomal dominant neurologic disorder characterized by adult-onset of slowly progressive gait ataxia accompanied by nystagmus. Brain MRI shows cerebellar atrophy (summary by Di Gregorio et al., 2014). For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400). (615957) (Updated 05-Apr-2021)

GeneReviews: NBK543515

Related Diseases for Spinocerebellar Ataxia 38

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

(show all 19)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant cerebellar ataxia 29.8 ELOVL4 CALB1 CACNA1A
2 hereditary ataxia 29.5 ELOVL5 ELOVL4 CACNA1A
3 ataxia and polyneuropathy, adult-onset 10.4
4 kearns-sayre syndrome 10.1
5 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
6 polyneuropathy 10.1
7 movement disease 10.0
8 pathologic nystagmus 10.0
9 dysphagia 10.0
10 monocular esotropia 9.9
11 intermittent squint 9.9
12 hypertropia 9.9
13 esotropia 9.9
14 fetal akinesia deformation sequence 4 9.9 ELOVL5 ELOVL4
15 spinocerebellar ataxia, autosomal recessive 14 9.9 ELOVL4 CACNA1A
16 spinocerebellar ataxia 1 9.7 CALB1 CACNA1A
17 fetal akinesia deformation sequence 1 9.7 ELOVL5 ELOVL4 ELOVL1
18 status epilepticus 9.7 CALB1 CACNA1A
19 cerebellar disease 9.6 CALB1 CACNA1A

Graphical network of the top 20 diseases related to Spinocerebellar Ataxia 38:



Diseases related to Spinocerebellar Ataxia 38

Symptoms & Phenotypes for Spinocerebellar Ataxia 38

Human phenotypes related to Spinocerebellar Ataxia 38:

58 31 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000639
2 dysarthria 58 31 hallmark (90%) Very frequent (99-80%) HP:0001260
3 gait ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002066
4 difficulty walking 58 31 hallmark (90%) Very frequent (99-80%) HP:0002355
5 cerebellar atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0001272
6 sensory impairment 58 31 frequent (33%) Frequent (79-30%) HP:0003474
7 slow saccadic eye movements 58 31 frequent (33%) Frequent (79-30%) HP:0000514
8 distal muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0002460
9 peripheral axonal neuropathy 31 occasional (7.5%) HP:0003477
10 tremor 58 31 very rare (1%) Very rare (<4-1%) HP:0001337
11 behavioral abnormality 58 31 very rare (1%) Very rare (<4-1%) HP:0000708
12 peripheral neuropathy 58 Frequent (79-30%)
13 limb ataxia 31 HP:0002070

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
nystagmus
slow saccades

Neurologic Peripheral Nervous System:
axonal neuropathy (in some patients)

Neurologic Central Nervous System:
dysarthria
gait ataxia
cerebellar atrophy
limb ataxia
cerebellar ataxia

Clinical features from OMIM®:

615957 (Updated 05-Apr-2021)

UMLS symptoms related to Spinocerebellar Ataxia 38:


gait ataxia; cerebellar ataxia

Drugs & Therapeutics for Spinocerebellar Ataxia 38

Drugs for Spinocerebellar Ataxia 38 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Omega 3 Fatty Acid

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Translating Molecular Pathology Into a Therapeutic Strategy in SCA38, a Newly Identified Form of Spinocerebellar Ataxia Completed NCT03109626

Search NIH Clinical Center for Spinocerebellar Ataxia 38

Genetic Tests for Spinocerebellar Ataxia 38

Genetic tests related to Spinocerebellar Ataxia 38:

# Genetic test Affiliating Genes
1 Spinocerebellar Ataxia 38 29 ELOVL5

Anatomical Context for Spinocerebellar Ataxia 38

MalaCards organs/tissues related to Spinocerebellar Ataxia 38:

40
Eye, Cerebellum, Spinal Cord

Publications for Spinocerebellar Ataxia 38

Articles related to Spinocerebellar Ataxia 38:

(show all 13)
# Title Authors PMID Year
1
ELOVL5 mutations cause spinocerebellar ataxia 38. 25 57 6 61
25065913 2014
2
Long-term efficacy of docosahexaenoic acid (DHA) for Spinocerebellar Ataxia 38 (SCA38) treatment: An open label extension study. 25 61
30862453 2019
3
Docosahexaenoic acid is a beneficial replacement treatment for spinocerebellar ataxia 38. 25 61
28976605 2017
4
Clinical and neuroradiological features of spinocerebellar ataxia 38 (SCA38). 25 61
27143115 2016
5
Spinocerebellar ataxia. 25
30975995 2019
6
Comprehensive systematic review summary: Treatment of cerebellar motor dysfunction and ataxia: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology. 25
29440566 2018
7
Motor Deficits and Cerebellar Atrophy in Elovl5 Knock Out Mice. 25
29163054 2017
8
Timing, rates and spectra of human germline mutation. 25
26656846 2016
9
SCA38 is rare in Mainland China. 25
26433464 2015
10
Contributions to the study of spinocerebellar ataxia type 38 (SCA38). 61
32314013 2020
11
Spinocerebellar Ataxia Type 38 61
31294938 2019
12
Movement disorders: Patients with spinocerebellar ataxia 38 benefit from DHA supplementation. 61
29064469 2017
13
Desaturase and elongase-limiting endogenous long-chain polyunsaturated fatty acid biosynthesis. 61
26828581 2016

Variations for Spinocerebellar Ataxia 38

ClinVar genetic disease variations for Spinocerebellar Ataxia 38:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ELOVL5 NM_021814.5(ELOVL5):c.214C>G (p.Leu72Val) SNV Pathogenic 144076 rs587777671 GRCh37: 6:53156606-53156606
GRCh38: 6:53291808-53291808
2 ELOVL5 NM_021814.5(ELOVL5):c.689G>T (p.Gly230Val) SNV Pathogenic 144075 rs587777670 GRCh37: 6:53135458-53135458
GRCh38: 6:53270660-53270660
3 ELOVL5 NM_021814.5(ELOVL5):c.235A>T (p.Met79Leu) SNV Uncertain significance 984690 GRCh37: 6:53156585-53156585
GRCh38: 6:53291787-53291787
4 ELOVL5 NM_021814.5(ELOVL5):c.577C>T (p.Arg193Cys) SNV Uncertain significance 931695 GRCh37: 6:53138062-53138062
GRCh38: 6:53273264-53273264
5 ELOVL5 NM_021814.5(ELOVL5):c.698A>G (p.Tyr233Cys) SNV Likely benign 210935 rs41273880 GRCh37: 6:53135449-53135449
GRCh38: 6:53270651-53270651
6 ELOVL5 NM_021814.5(ELOVL5):c.246+3891C>T SNV Benign 691282 rs150583340 GRCh37: 6:53152683-53152683
GRCh38: 6:53287885-53287885

UniProtKB/Swiss-Prot genetic disease variations for Spinocerebellar Ataxia 38:

72
# Symbol AA change Variation ID SNP ID
1 ELOVL5 p.Leu72Val VAR_072361 rs587777671
2 ELOVL5 p.Gly230Val VAR_072362 rs587777670

Expression for Spinocerebellar Ataxia 38

Search GEO for disease gene expression data for Spinocerebellar Ataxia 38.

Pathways for Spinocerebellar Ataxia 38

GO Terms for Spinocerebellar Ataxia 38

Cellular components related to Spinocerebellar Ataxia 38 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neuronal cell body GO:0043025 9.13 ELOVL5 CALB1 CACNA1A
2 integral component of endoplasmic reticulum membrane GO:0030176 8.8 ELOVL5 ELOVL4 ELOVL1

Biological processes related to Spinocerebellar Ataxia 38 according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.7 ELOVL5 ELOVL4 ELOVL1
2 fatty acid metabolic process GO:0006631 9.67 ELOVL5 ELOVL4 ELOVL1
3 fatty acid biosynthetic process GO:0006633 9.61 ELOVL5 ELOVL4 ELOVL1
4 sphingolipid biosynthetic process GO:0030148 9.58 ELOVL5 ELOVL4 ELOVL1
5 long-chain fatty-acyl-CoA biosynthetic process GO:0035338 9.54 ELOVL5 ELOVL4 ELOVL1
6 linoleic acid metabolic process GO:0043651 9.51 ELOVL5 ELOVL1
7 unsaturated fatty acid biosynthetic process GO:0006636 9.5 ELOVL5 ELOVL4 ELOVL1
8 regulation of presynaptic cytosolic calcium ion concentration GO:0099509 9.48 CALB1 CACNA1A
9 alpha-linolenic acid metabolic process GO:0036109 9.46 ELOVL5 ELOVL1
10 very long-chain fatty acid biosynthetic process GO:0042761 9.43 ELOVL5 ELOVL4 ELOVL1
11 fatty acid elongation, polyunsaturated fatty acid GO:0034626 9.33 ELOVL5 ELOVL4 ELOVL1
12 fatty acid elongation, monounsaturated fatty acid GO:0034625 9.13 ELOVL5 ELOVL4 ELOVL1
13 fatty acid elongation, saturated fatty acid GO:0019367 8.8 ELOVL5 ELOVL4 ELOVL1

Molecular functions related to Spinocerebellar Ataxia 38 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 very-long-chain 3-ketoacyl-CoA synthase activity GO:0102756 9.5 ELOVL5 ELOVL4 ELOVL1
2 3-oxo-lignoceronyl-CoA synthase activity GO:0102338 9.43 ELOVL5 ELOVL4 ELOVL1
3 3-oxo-cerotoyl-CoA synthase activity GO:0102337 9.33 ELOVL5 ELOVL4 ELOVL1
4 3-oxo-arachidoyl-CoA synthase activity GO:0102336 9.13 ELOVL5 ELOVL4 ELOVL1
5 fatty acid elongase activity GO:0009922 8.8 ELOVL5 ELOVL4 ELOVL1

Sources for Spinocerebellar Ataxia 38

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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