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 57 53 74 29 6 72
Spinocerebellar Ataxia Type 38 12 24 59 15 17
Sca38 57 53 59 74
Ataxia, Spinocerebellar, Type 38 40

Characteristics:

Orphanet epidemiological data:

59
spinocerebellar ataxia type 38
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
spinocerebellar ataxia 38:
Inheritance autosomal dominant inheritance
Onset and clinical course slow progression


GeneReviews:

24
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:



External Ids:

Disease Ontology 12 DOID:0050985
MeSH 44 D020754
ICD10 via Orphanet 34 G11.8
Orphanet 59 ORPHA423296
UMLS 72 C4014812

Summaries for Spinocerebellar Ataxia 38

UniProtKB/Swiss-Prot : 74 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 : 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)

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 Type 19/22 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 kearns-sayre syndrome 10.1
4 aceruloplasminemia 10.1
5 polyneuropathy 10.1
6 hereditary ataxia 10.1
7 movement disease 10.1
8 pathologic nystagmus 10.1
9 dysphagia 10.1

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:

59 32 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000639
2 dysarthria 59 32 hallmark (90%) Very frequent (99-80%) HP:0001260
3 gait ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002066
4 difficulty walking 59 32 hallmark (90%) Very frequent (99-80%) HP:0002355
5 cerebellar atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0001272
6 sensory impairment 59 32 frequent (33%) Frequent (79-30%) HP:0003474
7 slow saccadic eye movements 59 32 frequent (33%) Frequent (79-30%) HP:0000514
8 distal muscle weakness 59 32 occasional (7.5%) Occasional (29-5%) HP:0002460
9 peripheral axonal neuropathy 32 occasional (7.5%) HP:0003477
10 tremor 59 32 very rare (1%) Very rare (<4-1%) HP:0001337
11 behavioral abnormality 59 32 very rare (1%) Very rare (<4-1%) HP:0000708
12 peripheral neuropathy 59 Frequent (79-30%)
13 limb ataxia 32 HP:0002070

Symptoms via clinical synopsis from OMIM:

57
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

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:

41
Brain, Eye, Spinal Cord, Cerebellum

Publications for Spinocerebellar Ataxia 38

Articles related to Spinocerebellar Ataxia 38:

(show all 12)
# Title Authors PMID Year
1
ELOVL5 mutations cause spinocerebellar ataxia 38. 38 4 8 71
25065913 2014
2
Long-term efficacy of docosahexaenoic acid (DHA) for Spinocerebellar Ataxia 38 (SCA38) treatment: An open label extension study. 38 4
30862453 2019
3
Docosahexaenoic acid is a beneficial replacement treatment for spinocerebellar ataxia 38. 38 4
28976605 2017
4
Clinical and neuroradiological features of spinocerebellar ataxia 38 (SCA38). 38 4
27143115 2016
5
Spinocerebellar ataxia. 4
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. 4
29440566 2018
7
Motor Deficits and Cerebellar Atrophy in Elovl5 Knock Out Mice. 4
29163054 2017
8
Timing, rates and spectra of human germline mutation. 4
26656846 2016
9
SCA38 is rare in Mainland China. 4
26433464 2015
10
Spinocerebellar Ataxia Type 38 38
31294938 2019
11
Movement disorders: Patients with spinocerebellar ataxia 38 benefit from DHA supplementation. 38
29064469 2017
12
Desaturase and elongase-limiting endogenous long-chain polyunsaturated fatty acid biosynthesis. 38
26828581 2016

Variations for Spinocerebellar Ataxia 38

ClinVar genetic disease variations for Spinocerebellar Ataxia 38:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ELOVL5 NM_001242828.1(ELOVL5): c.770G> T (p.Gly257Val) single nucleotide variant Pathogenic rs587777670 6:53135458-53135458 6:53270660-53270660
2 ELOVL5 NM_001242828.1(ELOVL5): c.214C> G (p.Leu72Val) single nucleotide variant Pathogenic rs587777671 6:53156606-53156606 6:53291808-53291808

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

74
# 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

Sources for Spinocerebellar Ataxia 38

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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