SCA38
MCID: SPN284
MIFTS: 31

Spinocerebellar Ataxia 38 (SCA38)

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 38

MalaCards integrated aliases for Spinocerebellar Ataxia 38:

Name: Spinocerebellar Ataxia 38 58 54 76 30 6 74
Spinocerebellar Ataxia Type 38 12 60 15 17
Sca38 58 54 60 76
Ataxia, Spinocerebellar, Type 38 41

Characteristics:

Orphanet epidemiological data:

60
spinocerebellar ataxia type 38
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
spinocerebellar ataxia 38:
Onset and clinical course slow progression
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Spinocerebellar Ataxia 38

UniProtKB/Swiss-Prot : 76 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 ataxia and polyneuropathy, adult-onset and autosomal dominant cerebellar 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). The drug Omega 3 Fatty Acid has been mentioned in the context of this disorder. Affiliated tissues include brain, eye 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 : 58 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)

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 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:

# Related Disease Score Top Affiliating Genes
1 ataxia and polyneuropathy, adult-onset 10.4
2 autosomal dominant cerebellar ataxia 10.4
3 movement disease 10.1

Symptoms & Phenotypes for Spinocerebellar Ataxia 38

Human phenotypes related to Spinocerebellar Ataxia 38:

60 33 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000639
2 dysarthria 60 33 hallmark (90%) Very frequent (99-80%) HP:0001260
3 gait ataxia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002066
4 difficulty walking 60 33 hallmark (90%) Very frequent (99-80%) HP:0002355
5 cerebellar atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0001272
6 sensory impairment 60 33 frequent (33%) Frequent (79-30%) HP:0003474
7 slow saccadic eye movements 60 33 frequent (33%) Frequent (79-30%) HP:0000514
8 distal muscle weakness 60 33 occasional (7.5%) Occasional (29-5%) HP:0002460
9 peripheral axonal neuropathy 33 occasional (7.5%) HP:0003477
10 tremor 60 33 very rare (1%) Very rare (<4-1%) HP:0001337
11 behavioral abnormality 60 33 very rare (1%) Very rare (<4-1%) HP:0000708
12 peripheral neuropathy 60 Frequent (79-30%)
13 limb ataxia 33 HP:0002070

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
nystagmus
slow saccades

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

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

Clinical features from OMIM:

615957

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 Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Docosahexaenoic Acid (DHA) Replacement for Treatment in Spinocerebellar Ataxia 38 Completed NCT03109626 Not Applicable

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 30 ELOVL5

Anatomical Context for Spinocerebellar Ataxia 38

MalaCards organs/tissues related to Spinocerebellar Ataxia 38:

42
Brain, Eye, Spinal Cord, Cerebellum, Skin, Liver

Publications for Spinocerebellar Ataxia 38

Articles related to Spinocerebellar Ataxia 38:

# Title Authors Year
1
Long-term efficacy of docosahexaenoic acid (DHA) for Spinocerebellar Ataxia 38 (SCA38) treatment: An open label extension study. ( 30862453 )
2019
2
Docosahexaenoic acid is a beneficial replacement treatment for spinocerebellar ataxia 38. ( 28976605 )
2017
3
Movement disorders: Patients with spinocerebellar ataxia 38 benefit from DHA supplementation. ( 29064469 )
2017
4
Clinical and neuroradiological features of spinocerebellar ataxia 38 (SCA38). ( 27143115 )
2016
5
SCA38 is rare in Mainland China. ( 26433464 )
2015
6
ELOVL5 mutations cause spinocerebellar ataxia 38. ( 25065913 )
2014

Variations for Spinocerebellar Ataxia 38

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

76
# Symbol AA change Variation ID SNP ID
1 ELOVL5 p.Leu72Val VAR_072361 rs587777671
2 ELOVL5 p.Gly230Val VAR_072362 rs587777670

ClinVar genetic disease variations for Spinocerebellar Ataxia 38:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ELOVL5 NM_021814.4(ELOVL5): c.689G> T (p.Gly230Val) single nucleotide variant Pathogenic rs587777670 GRCh37 Chromosome 6, 53135458: 53135458
2 ELOVL5 NM_021814.4(ELOVL5): c.689G> T (p.Gly230Val) single nucleotide variant Pathogenic rs587777670 GRCh38 Chromosome 6, 53270660: 53270660
3 ELOVL5 NM_001242828.1(ELOVL5): c.214C> G (p.Leu72Val) single nucleotide variant Pathogenic rs587777671 GRCh37 Chromosome 6, 53156606: 53156606
4 ELOVL5 NM_001242828.1(ELOVL5): c.214C> G (p.Leu72Val) single nucleotide variant Pathogenic rs587777671 GRCh38 Chromosome 6, 53291808: 53291808

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

Sources for Spinocerebellar Ataxia 38

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....