SCA26
MCID: SPN099
MIFTS: 33

Spinocerebellar Ataxia 26 (SCA26)

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 26

MalaCards integrated aliases for Spinocerebellar Ataxia 26:

Name: Spinocerebellar Ataxia 26 58 54 76 30 13 6 45 74
Spinocerebellar Ataxia Type 26 12 54 60 15
Sca26 58 54 60 76
Ataxia, Spinocerebellar, Type 26 41

Characteristics:

Orphanet epidemiological data:

60
spinocerebellar ataxia type 26
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: elderly;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
slowly progressive
one family has been reported (last curated october 2013)
mean age at onset 33 years (range 20-60)


HPO:

33
spinocerebellar ataxia 26:
Onset and clinical course adult onset slow progression
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0050975
OMIM 58 609306
MESH via Orphanet 46 C537203
ICD10 via Orphanet 35 G11.2
UMLS via Orphanet 75 C1836395
Orphanet 60 ORPHA101112
MedGen 43 C1836395
UMLS 74 C1836395

Summaries for Spinocerebellar Ataxia 26

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 101112Disease definitionSpinocerebellar ataxia type 26 (SCA26) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III; see this term) characterized by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities.EpidemiologyTo date, only 23 affected patients have been described from one American family of Norwegian descent.Clinical descriptionDisease onset occurs between the ages of 26-60 with a mean age of onset of 42 years. Slowly progressive gait ataxia, dysarthria, nystagmus, impaired pursuit, and dysmetric saccades were reported in all patients. Left-sided pyramidal signs (hyperreflexia with positive Babinski sign) were reported in one patient. The disease duration is unknown.EtiologyA candidate gene for SCA26 has recently been identified as the eukaryotic translation elongation factor 2 (EEF2) gene, located on chromosome 19p13.3. Further confirmatory studies are still required in order to determine if a mutation in this gene directly causes SCA26.Genetic counselingSCA26 is inherited autosomal dominantly and genetic counseling is possible.Visit the Orphanet disease page for more resources.

MalaCards based summary : Spinocerebellar Ataxia 26, also known as spinocerebellar ataxia type 26, is related to spinocerebellar ataxia, autosomal recessive 26 and cone-rod dystrophy and hearing loss 2, and has symptoms including gait ataxia, cerebellar ataxia and ataxia, truncal. An important gene associated with Spinocerebellar Ataxia 26 is EEF2 (Eukaryotic Translation Elongation Factor 2). Affiliated tissues include eye, cerebellum and spinal cord, and related phenotypes are dysarthria and limb ataxia

Disease Ontology : 12 An autosomal dominant cerebellar ataxia that is characterized by slowly progressive ataxia and oculomotor abnormalities, has material basis in mutation in the EEF2 gene.

UniProtKB/Swiss-Prot : 76 Spinocerebellar ataxia 26: 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.

Description from OMIM: 609306

Related Diseases for Spinocerebellar Ataxia 26

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

# Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia, autosomal recessive 26 11.4
2 cone-rod dystrophy and hearing loss 2 11.1
3 autosomal dominant cerebellar ataxia 10.1

Symptoms & Phenotypes for Spinocerebellar Ataxia 26

Human phenotypes related to Spinocerebellar Ataxia 26:

60 33 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysarthria 60 33 hallmark (90%) Very frequent (99-80%) HP:0001260
2 limb ataxia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002070
3 progressive cerebellar ataxia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002073
4 progressive gait ataxia 60 33 hallmark (90%) Very frequent (99-80%) HP:0007240
5 impaired horizontal smooth pursuit 60 33 hallmark (90%) Very frequent (99-80%) HP:0001151
6 nystagmus 60 33 frequent (33%) Frequent (79-30%) HP:0000639
7 truncal ataxia 60 33 frequent (33%) Frequent (79-30%) HP:0002078
8 cerebellar atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0001272
9 dysmetric saccades 60 33 frequent (33%) Frequent (79-30%) HP:0000641
10 babinski sign 60 33 occasional (7.5%) Occasional (29-5%) HP:0003487
11 generalized hyperreflexia 60 33 occasional (7.5%) Occasional (29-5%) HP:0007034
12 seizures 60 Excluded (0%)
13 gait ataxia 33 HP:0002066
14 paralysis 60 Excluded (0%)
15 fasciculations 60 Excluded (0%)
16 sensory impairment 60 Excluded (0%)
17 incoordination 33 HP:0002311

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
nystagmus
irregular visual pursuit movements

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

Clinical features from OMIM:

609306

UMLS symptoms related to Spinocerebellar Ataxia 26:


gait ataxia, cerebellar ataxia, ataxia, truncal

GenomeRNAi Phenotypes related to Spinocerebellar Ataxia 26 according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased infection with West Nile virus (WNV) GR00348-A-2 8.96 ATCAY CACNA1A
2 Decreased West Nile virus (WNV) infection GR00348-A-3 8.62 ATCAY CACNA1A

Drugs & Therapeutics for Spinocerebellar Ataxia 26

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Spinocerebellar Ataxia 26

Cochrane evidence based reviews: spinocerebellar ataxia 26

Genetic Tests for Spinocerebellar Ataxia 26

Genetic tests related to Spinocerebellar Ataxia 26:

# Genetic test Affiliating Genes
1 Spinocerebellar Ataxia 26 30 EEF2

Anatomical Context for Spinocerebellar Ataxia 26

MalaCards organs/tissues related to Spinocerebellar Ataxia 26:

42
Eye, Cerebellum, Spinal Cord, Skin, Liver

Publications for Spinocerebellar Ataxia 26

Articles related to Spinocerebellar Ataxia 26:

# Title Authors Year
1
A conserved eEF2 coding variant in SCA26 leads to loss of translational fidelity and increased susceptibility to proteostatic insult. ( 23001565 )
2012
2
EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. ( 20050888 )
2010
3
Spinocerebellar ataxia type 26 maps to chromosome 19p13.3 adjacent to SCA6. ( 15732118 )
2005

Variations for Spinocerebellar Ataxia 26

UniProtKB/Swiss-Prot genetic disease variations for Spinocerebellar Ataxia 26:

76
# Symbol AA change Variation ID SNP ID
1 EEF2 p.Pro596His VAR_070792 rs587777052

ClinVar genetic disease variations for Spinocerebellar Ataxia 26:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 EEF2 NM_001961.3(EEF2): c.1787C> A (p.Pro596His) single nucleotide variant Pathogenic rs587777052 GRCh37 Chromosome 19, 3978097: 3978097
2 EEF2 NM_001961.3(EEF2): c.1787C> A (p.Pro596His) single nucleotide variant Pathogenic rs587777052 GRCh38 Chromosome 19, 3978099: 3978099
3 EEF2 NM_001961.3(EEF2): c.1979A> G (p.Asn660Ser) single nucleotide variant not provided rs945307250 GRCh38 Chromosome 19, 3977907: 3977907
4 EEF2 NM_001961.3(EEF2): c.1979A> G (p.Asn660Ser) single nucleotide variant not provided rs945307250 GRCh37 Chromosome 19, 3977905: 3977905

Expression for Spinocerebellar Ataxia 26

Search GEO for disease gene expression data for Spinocerebellar Ataxia 26.

Pathways for Spinocerebellar Ataxia 26

GO Terms for Spinocerebellar Ataxia 26

Sources for Spinocerebellar Ataxia 26

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
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