SCA5
MCID: SPN106
MIFTS: 40

Spinocerebellar Ataxia 5 (SCA5)

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 5

MalaCards integrated aliases for Spinocerebellar Ataxia 5:

Name: Spinocerebellar Ataxia 5 58 54 76 30 13 6
Spinocerebellar Ataxia Type 5 12 54 60 15 74
Sca5 58 54 60 76
Ataxia, Spinocerebellar, Type 5 41

Characteristics:

Orphanet epidemiological data:

60
spinocerebellar ataxia type 5
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood,Elderly; Age of death: adult,elderly;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
slowly progressive disorder
genetic anticipation has been observed
patients retain ambulation even after long disease course
variable age at onset (range 10 to 50 years)
infantile onset (in 2 unrelated patients)
maternal anticipation bias


HPO:

33
spinocerebellar ataxia 5:
Onset and clinical course infantile onset slow progression onset
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0050882
OMIM 58 600224
MeSH 45 D020754
ICD10 via Orphanet 35 G11.2
UMLS via Orphanet 75 C0752123
Orphanet 60 ORPHA98766
MedGen 43 C0752123
UMLS 74 C0752123

Summaries for Spinocerebellar Ataxia 5

NIH Rare Diseases : 54 Spinocerebellar ataxia 5 (SCA5) is one of the many spinocerebellar ataxias, which are inherited conditions that cause degeneration of the spinal cord and cerebellum. SCA5 almost exclusively affects the cerebellum. It is considered to be a mild form that progresses slowly. The age of onset is usually between the ages of 20 and 30, but a wide range in age of onset has been reported. Signs and symptoms may include loss of coordination of the hands, arms, and legs; impaired balance when walking; and slurred speech (dysarthria). SCA5 is caused by mutations in the SPTBN2 gene and is inherited in an autosomal dominant manner.

MalaCards based summary : Spinocerebellar Ataxia 5, also known as spinocerebellar ataxia type 5, is related to spinocerebellar ataxia 20 and spinocerebellar ataxia, x-linked 5, and has symptoms including gait ataxia, dysdiadochokinesis and action tremor. An important gene associated with Spinocerebellar Ataxia 5 is SPTBN2 (Spectrin Beta, Non-Erythrocytic 2), and among its related pathways/superpathways are L1CAM interactions and Interaction between L1 and Ankyrins. Affiliated tissues include eye, spinal cord and cerebellum, and related phenotypes are gait disturbance and slurred speech

Disease Ontology : 12 An autosomal dominant cerebellar ataxia that is characterized by the early-onset of cerebellar signs and eye movement abnormalities with a very slow disease progression, and has material basis in mutation in the SPTBN2 gene.

OMIM : 58 For a general discussion of autosomal dominant spinocerebellar ataxia (SCA), see SCA1 (164400). (600224)

UniProtKB/Swiss-Prot : 76 Spinocerebellar ataxia 5: Spinocerebellar ataxia is 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. SCA5 is an autosomal dominant cerebellar ataxia (ADCA). It is a slowly progressive disorder with variable age at onset, ranging between 10 and 50 years.

Related Diseases for Spinocerebellar Ataxia 5

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 48
Spinocerebellar Ataxia Type 19/22 Grid2-Related Spinocerebellar Ataxia
Spinocerebellar Ataxia Autosomal Recessive 5

Diseases related to Spinocerebellar Ataxia 5 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia 20 11.3
2 spinocerebellar ataxia, x-linked 5 11.3
3 spinocerebellar ataxia 1 11.1
4 spinocerebellar ataxia 25 11.1
5 autosomal dominant cerebellar ataxia 10.7
6 ataxia and polyneuropathy, adult-onset 10.3
7 mitochondrial dna depletion syndrome 7 10.2
8 aceruloplasminemia 9.8 GRID2 SPTBN2

Graphical network of the top 20 diseases related to Spinocerebellar Ataxia 5:



Diseases related to Spinocerebellar Ataxia 5

Symptoms & Phenotypes for Spinocerebellar Ataxia 5

Human phenotypes related to Spinocerebellar Ataxia 5:

60 33 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 gait disturbance 60 33 hallmark (90%) Very frequent (99-80%) HP:0001288
2 slurred speech 60 33 hallmark (90%) Very frequent (99-80%) HP:0001350
3 cerebellar atrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0001272
4 incoordination 60 33 hallmark (90%) Very frequent (99-80%) HP:0002311
5 global developmental delay 33 occasional (7.5%) HP:0001263
6 generalized hypotonia 33 occasional (7.5%) HP:0001290
7 dysarthria 33 HP:0001260
8 hyperreflexia 33 HP:0001347
9 cognitive impairment 33 HP:0100543
10 gait ataxia 33 HP:0002066
11 limb ataxia 33 HP:0002070
12 dysmetria 33 HP:0001310
13 intention tremor 33 HP:0002080
14 dysdiadochokinesis 33 HP:0002075
15 impaired vibratory sensation 33 HP:0002495
16 impaired smooth pursuit 33 HP:0007772
17 gaze-evoked nystagmus 33 HP:0000640
18 upper motor neuron dysfunction 33 HP:0002493
19 facial myokymia 33 HP:0000317

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
dysarthria
hyperreflexia
gait ataxia
limb ataxia
dysmetria
more
Neurologic Peripheral Nervous System:
decreased vibration sense

Head And Neck Eyes:
impaired smooth pursuit
nystagmus, gaze-evoked
nystagmus, downbeat

Head And Neck Face:
facial myokymia, mild

Clinical features from OMIM:

600224

UMLS symptoms related to Spinocerebellar Ataxia 5:


gait ataxia, dysdiadochokinesis, action tremor, cerebellar ataxia

Drugs & Therapeutics for Spinocerebellar Ataxia 5

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 5

Genetic Tests for Spinocerebellar Ataxia 5

Genetic tests related to Spinocerebellar Ataxia 5:

# Genetic test Affiliating Genes
1 Spinocerebellar Ataxia 5 30 SPTBN2

Anatomical Context for Spinocerebellar Ataxia 5

MalaCards organs/tissues related to Spinocerebellar Ataxia 5:

42
Eye, Spinal Cord, Cerebellum

Publications for Spinocerebellar Ataxia 5

Articles related to Spinocerebellar Ataxia 5:

(show all 18)
# Title Authors Year
1
Infantile-onset spinocerebellar ataxia type 5 associated with a novel SPTBN2 mutation: A case report. ( 30898343 )
2019
2
Sporadic spinocerebellar ataxia, type 5: First report from India. ( 29322991 )
2018
3
β-III-spectrin spinocerebellar ataxia type 5 mutation reveals a dominant cytoskeletal mechanism that underlies dendritic arborization. ( 29078305 )
2017
4
A Novel Missense Mutation in the Spectrin Beta Nonerythrocytic 2 Gene Likely Associated with Spinocerebellar Ataxia Type 5. ( 27748352 )
2016
5
A human I^-III-spectrin spinocerebellar ataxia type 5 mutation causes high-affinity F-actin binding. ( 26883385 )
2016
6
Mutant I^-III spectrin causes mGluR1I+ mislocalization and functional deficits in a mouse model of spinocerebellar ataxia type 5. ( 25057192 )
2014
7
A family with spinocerebellar ataxia type 5 found to have a novel missense mutation within a SPTBN2 spectrin repeat. ( 22843192 )
2013
8
Case of infantile onset spinocerebellar ataxia type 5. ( 22914369 )
2013
9
Spinocerebellar ataxia type 5. ( 21827906 )
2012
10
Spectrin mutations that cause spinocerebellar ataxia type 5 impair axonal transport and induce neurodegeneration in Drosophila. ( 20368622 )
2010
11
Loss of beta-III spectrin leads to Purkinje cell dysfunction recapitulating the behavior and neuropathology of spinocerebellar ataxia type 5 in humans. ( 20371805 )
2010
12
Beta-III spectrin mutation L253P associated with spinocerebellar ataxia type 5 interferes with binding to Arp1 and protein trafficking from the Golgi. ( 20603325 )
2010
13
Spectrin mutations cause spinocerebellar ataxia type 5. ( 16429157 )
2006
14
Spinocerebellar ataxia type 20 is genetically distinct from spinocerebellar ataxia type 5. ( 17159129 )
2006
15
Spinocerebellar ataxia type 5: clinical and molecular genetic features of a German kindred. ( 14745083 )
2004
16
Clinical and MRI findings in spinocerebellar ataxia type 5. ( 10522902 )
1999
17
Should spinocerebellar ataxia type 5 be called Lincoln ataxia? ( 9222211 )
1997
18
Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11. ( 7874171 )
1994

Variations for Spinocerebellar Ataxia 5

UniProtKB/Swiss-Prot genetic disease variations for Spinocerebellar Ataxia 5:

76
# Symbol AA change Variation ID SNP ID
1 SPTBN2 p.Leu253Pro VAR_026767 rs121918306
2 SPTBN2 p.Arg480Trp VAR_070232 rs397514749

ClinVar genetic disease variations for Spinocerebellar Ataxia 5:

6 (show all 38)
# Gene Variation Type Significance SNP ID Assembly Location
1 SPTBN2 NM_006946.3(SPTBN2): c.157+5G> A single nucleotide variant Conflicting interpretations of pathogenicity rs150159444 GRCh37 Chromosome 11, 66488550: 66488550
2 SPTBN2 NM_006946.3(SPTBN2): c.157+5G> A single nucleotide variant Conflicting interpretations of pathogenicity rs150159444 GRCh38 Chromosome 11, 66721079: 66721079
3 SPTBN2 SPTBN2, 39-BP DEL deletion Pathogenic
4 SPTBN2 SPTBN2, 15-BP DEL, NT1886 deletion Pathogenic
5 SPTBN2 NM_006946.3(SPTBN2): c.758T> C (p.Leu253Pro) single nucleotide variant Pathogenic rs121918306 GRCh37 Chromosome 11, 66481116: 66481116
6 SPTBN2 NM_006946.3(SPTBN2): c.758T> C (p.Leu253Pro) single nucleotide variant Pathogenic rs121918306 GRCh38 Chromosome 11, 66713645: 66713645
7 SPTBN2 NM_006946.3(SPTBN2): c.1438C> T (p.Arg480Trp) single nucleotide variant Pathogenic rs397514749 GRCh37 Chromosome 11, 66475202: 66475202
8 SPTBN2 NM_006946.3(SPTBN2): c.1438C> T (p.Arg480Trp) single nucleotide variant Pathogenic rs397514749 GRCh38 Chromosome 11, 66707731: 66707731
9 SPTBN2 NM_006946.3(SPTBN2): c.3101T> C (p.Val1034Ala) single nucleotide variant Benign rs506028 GRCh37 Chromosome 11, 66468469: 66468469
10 SPTBN2 NM_006946.3(SPTBN2): c.3101T> C (p.Val1034Ala) single nucleotide variant Benign rs506028 GRCh38 Chromosome 11, 66700998: 66700998
11 SPTBN2 NM_006946.3(SPTBN2): c.585C> T (p.Asn195=) single nucleotide variant Benign/Likely benign rs34775878 GRCh37 Chromosome 11, 66481633: 66481633
12 SPTBN2 NM_006946.3(SPTBN2): c.585C> T (p.Asn195=) single nucleotide variant Benign/Likely benign rs34775878 GRCh38 Chromosome 11, 66714162: 66714162
13 SPTBN2 NM_006946.3(SPTBN2): c.470T> C (p.Ile157Thr) single nucleotide variant Likely pathogenic rs875989881 GRCh38 Chromosome 11, 66715235: 66715235
14 SPTBN2 NM_006946.3(SPTBN2): c.470T> C (p.Ile157Thr) single nucleotide variant Likely pathogenic rs875989881 GRCh37 Chromosome 11, 66482706: 66482706
15 SPTBN2 NM_006946.3(SPTBN2): c.285C> T (p.Leu95=) single nucleotide variant Benign/Likely benign rs34117933 GRCh38 Chromosome 11, 66715854: 66715854
16 SPTBN2 NM_006946.3(SPTBN2): c.285C> T (p.Leu95=) single nucleotide variant Benign/Likely benign rs34117933 GRCh37 Chromosome 11, 66483325: 66483325
17 SPTBN2 NM_006946.3(SPTBN2): c.6242G> A (p.Arg2081Gln) single nucleotide variant Uncertain significance rs764407421 GRCh37 Chromosome 11, 66455772: 66455772
18 SPTBN2 NM_006946.3(SPTBN2): c.6242G> A (p.Arg2081Gln) single nucleotide variant Uncertain significance rs764407421 GRCh38 Chromosome 11, 66688301: 66688301
19 SPTBN2 NM_006946.3(SPTBN2): c.3686A> G (p.His1229Arg) single nucleotide variant Benign/Likely benign rs114788199 GRCh38 Chromosome 11, 66699496: 66699496
20 SPTBN2 NM_006946.3(SPTBN2): c.3686A> G (p.His1229Arg) single nucleotide variant Benign/Likely benign rs114788199 GRCh37 Chromosome 11, 66466967: 66466967
21 SPTBN2 NM_006946.3(SPTBN2): c.7020G> A (p.Pro2340=) single nucleotide variant Benign/Likely benign rs61741217 GRCh38 Chromosome 11, 66686024: 66686024
22 SPTBN2 NM_006946.3(SPTBN2): c.7020G> A (p.Pro2340=) single nucleotide variant Benign/Likely benign rs61741217 GRCh37 Chromosome 11, 66453495: 66453495
23 SPTBN2 NM_006946.3(SPTBN2): c.234G> A (p.Val78=) single nucleotide variant Benign/Likely benign rs78309877 GRCh38 Chromosome 11, 66715905: 66715905
24 SPTBN2 NM_006946.3(SPTBN2): c.234G> A (p.Val78=) single nucleotide variant Benign/Likely benign rs78309877 GRCh37 Chromosome 11, 66483376: 66483376
25 SPTBN2 NM_006946.3(SPTBN2): c.2473G> A (p.Gly825Ser) single nucleotide variant Benign rs4930388 GRCh37 Chromosome 11, 66472274: 66472274
26 SPTBN2 NM_006946.3(SPTBN2): c.2473G> A (p.Gly825Ser) single nucleotide variant Benign rs4930388 GRCh38 Chromosome 11, 66704803: 66704803
27 SPTBN2 NM_006946.3(SPTBN2): c.1416G> A (p.Thr472=) single nucleotide variant Benign rs145249947 GRCh38 Chromosome 11, 66707753: 66707753
28 SPTBN2 NM_006946.3(SPTBN2): c.1416G> A (p.Thr472=) single nucleotide variant Benign rs145249947 GRCh37 Chromosome 11, 66475224: 66475224
29 SPTBN2 NM_006946.3(SPTBN2): c.1877T> C (p.Leu626Pro) single nucleotide variant Likely pathogenic rs1554984881 GRCh37 Chromosome 11, 66472870: 66472870
30 SPTBN2 NM_006946.3(SPTBN2): c.1877T> C (p.Leu626Pro) single nucleotide variant Likely pathogenic rs1554984881 GRCh38 Chromosome 11, 66705399: 66705399
31 SPTBN2 NM_006946.3(SPTBN2): c.1323C> T (p.Leu441=) single nucleotide variant Likely benign rs764447133 GRCh38 Chromosome 11, 66708168: 66708168
32 SPTBN2 NM_006946.3(SPTBN2): c.1323C> T (p.Leu441=) single nucleotide variant Likely benign rs764447133 GRCh37 Chromosome 11, 66475639: 66475639
33 SPTBN2 NM_006946.3(SPTBN2): c.1310G> A (p.Arg437Gln) single nucleotide variant Likely pathogenic rs1554986337 GRCh37 Chromosome 11, 66475652: 66475652
34 SPTBN2 NM_006946.3(SPTBN2): c.1310G> A (p.Arg437Gln) single nucleotide variant Likely pathogenic rs1554986337 GRCh38 Chromosome 11, 66708181: 66708181
35 SPTBN2 NM_006946.3(SPTBN2): c.6109C> T (p.Arg2037Cys) single nucleotide variant not provided GRCh38 Chromosome 11, 66688775: 66688775
36 SPTBN2 NM_006946.3(SPTBN2): c.6109C> T (p.Arg2037Cys) single nucleotide variant not provided GRCh37 Chromosome 11, 66456246: 66456246
37 SPTBN2 NM_006946.3(SPTBN2): c.3929G> A (p.Arg1310His) single nucleotide variant not provided GRCh38 Chromosome 11, 66698724: 66698724
38 SPTBN2 NM_006946.3(SPTBN2): c.3929G> A (p.Arg1310His) single nucleotide variant not provided GRCh37 Chromosome 11, 66466195: 66466195

Expression for Spinocerebellar Ataxia 5

Search GEO for disease gene expression data for Spinocerebellar Ataxia 5.

Pathways for Spinocerebellar Ataxia 5

Pathways related to Spinocerebellar Ataxia 5 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.05 ANK2 SPTBN2
2 10.1 ANK2 SPTBN2

GO Terms for Spinocerebellar Ataxia 5

Cellular components related to Spinocerebellar Ataxia 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell junction GO:0030054 9.43 ANK2 GRID2 SPTBN2
2 presynapse GO:0098793 9.16 DNAJC6 SPTBN2
3 synapse GO:0045202 9.13 ANK2 DNAJC6 GRID2
4 parallel fiber to Purkinje cell synapse GO:0098688 8.62 GRID2 SPTBN2

Biological processes related to Spinocerebellar Ataxia 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ER to Golgi vesicle-mediated transport GO:0006888 9.16 ANK2 SPTBN2
2 cytoskeleton organization GO:0007010 8.96 ANK2 SPTBN2
3 cellular protein localization GO:0034613 8.62 ANK2 GRID2

Molecular functions related to Spinocerebellar Ataxia 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural constituent of cytoskeleton GO:0005200 8.62 ANK2 SPTBN2

Sources for Spinocerebellar Ataxia 5

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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