SCA26
MCID: SPN099
MIFTS: 32

Spinocerebellar Ataxia 26 (SCA26)

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 26

MalaCards integrated aliases for Spinocerebellar Ataxia 26:

Name: Spinocerebellar Ataxia 26 57 20 72 13 44 70
Spinocerebellar Ataxia Type 26 12 20 58 29 6 15
Sca26 57 20 58 72
Ataxia, Spinocerebellar, Type 26 39

Characteristics:

Orphanet epidemiological data:

58
spinocerebellar ataxia type 26
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: elderly;

OMIM®:

57 (Updated 05-Apr-2021)
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:

31
spinocerebellar ataxia 26:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset slow progression


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0050975
OMIM® 57 609306
OMIM Phenotypic Series 57 PS164400
MESH via Orphanet 45 C537203
ICD10 via Orphanet 33 G11.2
UMLS via Orphanet 71 C1836395
Orphanet 58 ORPHA101112
MedGen 41 C1836395
UMLS 70 C1836395

Summaries for Spinocerebellar Ataxia 26

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 101112 Definition A very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities. Epidemiology To date, only 23 affected patients have been described from one American family of Norwegian descent. Clinical description Spinocerebellar ataxia type 26 (SCA26) onset occurs between the ages of 26-60 with a mean age of onset of 42 years. Slowly progressive gait ataxia and dysarthria were reported in all patients. Nystagmus, impaired pursuit, and dysmetric saccades were described in majority of patitents. Left-sided pyramidal signs (hyperreflexia with positive Babinski sign) were reported in one patient. The disease duration is unknown. Etiology A 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. Diagnostic methods Diagnosis is based on the clinical findings of pure cerebellar ataxia as well as molecular findings. Head magnetic resonance imaging (MRI) usually demonstrates the presence of atrophy of the cerebellum sparing the brainstem and is helpful in excluding other causes of ataxia. Molecular genetic testing identifies a mutation in the EEF2 gene, confirming a diagnosis of SCA26. Differential diagnosis Differential diagnoses include other forms of ADCA type III, in particular SCA5, SCA6, SCA11, SCA30 and SCA31. Antenatal diagnosis Antenatal diagnosis is possible in families with a known disease causing mutation. Genetic counseling SCA26 is inherited autosomal dominantly and genetic counseling is possible. Genetic counseling should be proposed to individuals having the disease-causing mutation informing them that there is 50% risk of passing the mutation to offspring. Management and treatment There is no cure for SCA26 and treatment is supportive. Neurological follow-up is recommended to monitor the progression of ataxia. Prognosis Disease progression is very slow, but precise prognosis is unknown.

MalaCards based summary : Spinocerebellar Ataxia 26, also known as spinocerebellar ataxia type 26, is related to hereditary ataxia and autosomal dominant cerebellar ataxia, 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), and among its related pathways/superpathways is Translation Translation regulation by Alpha-1 adrenergic receptors. Affiliated tissues include eye, cerebellum and spinal cord, and related phenotypes are dysarthria and progressive gait 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 : 72 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.

More information from OMIM: 609306 PS164400

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, Autosomal Recessive 28 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:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 hereditary ataxia 29.3 ITPR1 EEF2 ATP1A3
2 autosomal dominant cerebellar ataxia 29.3 TK2 ITPR1
3 spinocerebellar ataxia, autosomal recessive 26 11.3
4 ataxia and polyneuropathy, adult-onset 10.1
5 spinocerebellar ataxia 15 9.8 ITPR1 ATP1A3
6 episodic ataxia 9.8 ITPR1 ATP1A3
7 cerebellar disease 9.7 ITPR1 ATP1A3
8 spinocerebellar ataxia, x-linked 4 9.7 TK2 ITPR1
9 spinocerebellar ataxia, x-linked 3 9.7 TK2 ITPR1
10 dentatorubral-pallidoluysian atrophy 9.6 TK2 ITPR1
11 spinocerebellar ataxia 30 9.5 TK2 ITPR1 EEF2

Graphical network of the top 20 diseases related to Spinocerebellar Ataxia 26:



Diseases related to Spinocerebellar Ataxia 26

Symptoms & Phenotypes for Spinocerebellar Ataxia 26

Human phenotypes related to Spinocerebellar Ataxia 26:

58 31 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysarthria 58 31 hallmark (90%) Very frequent (99-80%) HP:0001260
2 progressive gait ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0007240
3 progressive cerebellar ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002073
4 limb ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002070
5 impaired horizontal smooth pursuit 58 31 hallmark (90%) Very frequent (99-80%) HP:0001151
6 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
7 cerebellar atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0001272
8 truncal ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002078
9 dysmetric saccades 58 31 frequent (33%) Frequent (79-30%) HP:0000641
10 babinski sign 58 31 occasional (7.5%) Occasional (29-5%) HP:0003487
11 generalized hyperreflexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0007034
12 seizures 58 Excluded (0%)
13 fasciculations 58 Excluded (0%)
14 gait ataxia 31 HP:0002066
15 sensory impairment 58 Excluded (0%)
16 incoordination 31 HP:0002311
17 paralysis 58 Excluded (0%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
nystagmus
irregular visual pursuit movements

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

Clinical features from OMIM®:

609306 (Updated 05-Apr-2021)

UMLS symptoms related to Spinocerebellar Ataxia 26:


gait ataxia; cerebellar ataxia; ataxia, truncal

Drugs & Therapeutics for Spinocerebellar Ataxia 26

Search Clinical Trials , 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 Type 26 29 EEF2

Anatomical Context for Spinocerebellar Ataxia 26

MalaCards organs/tissues related to Spinocerebellar Ataxia 26:

40
Eye, Cerebellum, Spinal Cord

Publications for Spinocerebellar Ataxia 26

Articles related to Spinocerebellar Ataxia 26:

# Title Authors PMID Year
1
Spinocerebellar ataxia type 26 maps to chromosome 19p13.3 adjacent to SCA6. 6 57 61
15732118 2005
2
A conserved eEF2 coding variant in SCA26 leads to loss of translational fidelity and increased susceptibility to proteostatic insult. 57 6
23001565 2012
3
De Novo variants in EEF2 cause a neurodevelopmental disorder with benign external hydrocephalus. 61
33355653 2021

Variations for Spinocerebellar Ataxia 26

ClinVar genetic disease variations for Spinocerebellar Ataxia 26:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 EEF2 NM_001961.4(EEF2):c.1787C>A (p.Pro596His) SNV Pathogenic 66077 rs587777052 GRCh37: 19:3978097-3978097
GRCh38: 19:3978099-3978099
2 EEF2 NM_001961.4(EEF2):c.1979A>G (p.Asn660Ser) SNV not provided 441103 rs945307250 GRCh37: 19:3977905-3977905
GRCh38: 19:3977907-3977907

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

72
# Symbol AA change Variation ID SNP ID
1 EEF2 p.Pro596His VAR_070792 rs587777052

Expression for Spinocerebellar Ataxia 26

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

Pathways for Spinocerebellar Ataxia 26

Pathways related to Spinocerebellar Ataxia 26 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.71 ITPR1 EEF2

GO Terms for Spinocerebellar Ataxia 26

Cellular components related to Spinocerebellar Ataxia 26 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 synapse GO:0045202 8.8 EEF2 DMXL2 ATP1A3

Biological processes related to Spinocerebellar Ataxia 26 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of cardiac conduction GO:1903779 8.62 ITPR1 ATP1A3

Sources for Spinocerebellar Ataxia 26

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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