MCID: SPN099
MIFTS: 31

Spinocerebellar Ataxia 26

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Skin diseases, Eye diseases, Mental diseases, Ear diseases, Metabolic diseases, Fetal diseases, Liver diseases

Aliases & Classifications for Spinocerebellar Ataxia 26

MalaCards integrated aliases for Spinocerebellar Ataxia 26:

Name: Spinocerebellar Ataxia 26 57 53 75 29 13 6 73
Spinocerebellar Ataxia Type 26 12 53 59 15
Sca26 57 53 59 75
Ataxia, Spinocerebellar, Type 26 40

Characteristics:

Orphanet epidemiological data:

59
spinocerebellar ataxia type 26
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: elderly;

OMIM:

57
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:

32
spinocerebellar ataxia 26:
Onset and clinical course adult onset slow progression
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 609306
Disease Ontology 12 DOID:0050975
Orphanet 59 ORPHA101112
MESH via Orphanet 45 C537203
UMLS via Orphanet 74 C1836395
ICD10 via Orphanet 34 G11.2
MedGen 42 C1836395
MeSH 44 D020754
UMLS 73 C1836395

Summaries for Spinocerebellar Ataxia 26

NIH Rare Diseases : 53 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 autosomal dominant cerebellar ataxia, and has symptoms including cerebellar ataxia, ataxia, truncal and gait ataxia. 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 nystagmus and dysarthria

UniProtKB/Swiss-Prot : 75 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, Autosomal Recessive 1
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 Type 16
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 11.2
2 autosomal dominant cerebellar ataxia 10.0

Symptoms & Phenotypes for Spinocerebellar Ataxia 26

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Spinocerebellar Ataxia 26:

59 32 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0000639
2 dysarthria 59 32 hallmark (90%) Very frequent (99-80%) HP:0001260
3 limb ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002070
4 babinski sign 59 32 occasional (7.5%) Occasional (29-5%) HP:0003487
5 progressive cerebellar ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002073
6 truncal ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0002078
7 cerebellar atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0001272
8 progressive gait ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0007240
9 dysmetric saccades 59 32 frequent (33%) Frequent (79-30%) HP:0000641
10 generalized hyperreflexia 59 32 occasional (7.5%) Occasional (29-5%) HP:0007034
11 impaired horizontal smooth pursuit 59 32 hallmark (90%) Very frequent (99-80%) HP:0001151
12 seizures 59 Excluded (0%)
13 gait ataxia 32 HP:0002066
14 paralysis 59 Excluded (0%)
15 fasciculations 59 Excluded (0%)
16 incoordination 32 HP:0002311
17 sensory impairment 59 Excluded (0%)

UMLS symptoms related to Spinocerebellar Ataxia 26:


cerebellar ataxia, ataxia, truncal, gait ataxia

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

26
# 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

Genetic Tests for Spinocerebellar Ataxia 26

Genetic tests related to Spinocerebellar Ataxia 26:

# Genetic test Affiliating Genes
1 Spinocerebellar Ataxia 26 29 EEF2

Anatomical Context for Spinocerebellar Ataxia 26

MalaCards organs/tissues related to Spinocerebellar Ataxia 26:

41
Eye, Cerebellum, Spinal Cord

Publications for Spinocerebellar Ataxia 26

Articles related to Spinocerebellar Ataxia 26:

# Title Authors Year
1
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:

75
# 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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....