SCA31
MCID: SPN103
MIFTS: 38

Spinocerebellar Ataxia 31 (SCA31)

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 31

MalaCards integrated aliases for Spinocerebellar Ataxia 31:

Name: Spinocerebellar Ataxia 31 57 20 72 13 70
Spinocerebellar Ataxia Type 31 12 20 58 29 6 15
Sca31 57 20 58 72
Spinocerebellar Ataxia 16q22-Linked 20 72
Pure Spinocerebellar Ataxia Japanese Type 72
Spinocerebellar Ataxia, 16q22-Linked 57
Ataxia, Spinocerebellar, Type 31 39
Sca4 Pure Japanese Type 72

Characteristics:

Orphanet epidemiological data:

58
spinocerebellar ataxia type 31
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood,Elderly; Age of death: elderly;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
late adult onset (after age 55 years)
earlier onset is rare


HPO:

31
spinocerebellar ataxia 31:
Inheritance autosomal dominant inheritance
Onset and clinical course late onset


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0050980
OMIM® 57 117210
OMIM Phenotypic Series 57 PS164400
MeSH 44 D020754
ICD10 via Orphanet 33 G11.8
UMLS via Orphanet 71 C1861736
Orphanet 58 ORPHA217012
MedGen 41 C1861736
UMLS 70 C1861736

Summaries for Spinocerebellar Ataxia 31

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 217012 Definition An autosomal dominant cerebellar ataxia type III that is characterized by the late-onset of ataxia, dysarthria and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense and hearing difficulties. Epidemiology Spinocerebellar ataxia type 31 (SCA31) is the third most common form of ADCA in Japan, where more than 20 families have been reported to date. It is rarely found in other Asian countries and is extremely rare in Western countries. Clinical description The mean age of disease onset is 58 years but it can present between the ages of 8 to 83 years. Ataxia, dysarthria, and horizontal gaze nystagmus are the common manifestations of SCA31, and the disease duration can be more than 10 years. Less common manifestations include pyramidal signs, tremor, decreased vibration sense, hearing difficulties, and blepharospasm Etiology SCA31 is due to non-coding pentanucleotide repeat expansions in the BEAN1 gene (16q21), encoding protein BEAN1. Diagnostic methods Diagnosis is based on the characteristic clinical findings and molecular genetic testing. As the manifestations of SCA31 are not specific, diagnosis is only confirmed with the finding of a mutation in the BEAN1 gene Differential diagnosis Differential diagnosis includes other types of ADCA. Genetic counseling SCA31 is inherited autosomal dominantly with incomplete penetrance 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 SCA31 and treatment is supportive. Physical therapy, as well as the use of canes and walkers, should be offered in order to maximize strength and maintain activity. Wheelchairs are eventually necessary. Speech therapy and communication devices may be useful to those with dysarthria. Dysphagia should be monitored to decrease the risk of aspiration pneumonia. In those with vertigo, vestibular suppressants may be beneficial. Annual neurological examinations are recommended to monitor disease progression. Prognosis Disease progression is very slow. Life expectancy is not reduced but the quality of life can be significantly affected. According to recent reports, patients can become wheelchair bound at age of 79 years, and died at age of 89 years.

MalaCards based summary : Spinocerebellar Ataxia 31, also known as spinocerebellar ataxia type 31, is related to spinocerebellar ataxia 1 and machado-joseph disease, and has symptoms including gait ataxia An important gene associated with Spinocerebellar Ataxia 31 is BEAN1 (Brain Expressed Associated With NEDD4 1), and among its related pathways/superpathways is Spinocerebellar ataxia. Affiliated tissues include cerebellum, eye and spinal cord, and related phenotypes are dysarthria and gait ataxia

Disease Ontology : 12 An autosomal dominant cerebellar ataxia that is characterized by late-onset ataxia, dysarthria and horizontal nystagmus, has material basis in repeat expansion mutation in the BEAN1 gene.

UniProtKB/Swiss-Prot : 72 Spinocerebellar ataxia 31: 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. SCA31 belongs to the autosomal dominant cerebellar ataxias type III (ADCA III) which are characterized by pure cerebellar ataxia without additional signs.

More information from OMIM: 117210 PS164400

Related Diseases for Spinocerebellar Ataxia 31

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

(show top 50) (show all 54)
# Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia 1 31.2 PLEKHG4 CACNA1A ATXN10
2 machado-joseph disease 29.8 PLEKHG4 CACNA1A ATXN10
3 spinocerebellar ataxia 6 29.6 CACNA1A ATXN10
4 hereditary ataxia 29.0 PLEKHG4 NOP56 CACNA1A BEAN1 ATXN10
5 dentatorubral-pallidoluysian atrophy 27.9 TK2 PLEKHG4 NOP56 DAB1 CACNA1A C9orf72
6 autosomal dominant cerebellar ataxia 27.8 TK2 PLEKHG4 NOP56 DAB1 CACNA1A C9orf72
7 mitochondrial dna depletion syndrome 7 11.4
8 spinocerebellar ataxia 26 10.9
9 dementia 10.2
10 dystonia 10.2
11 spinocerebellar degeneration 10.2
12 autosomal dominant cerebellar ataxia type iii 10.1 PLEKHG4 CACNA1A
13 spinocerebellar ataxia, x-linked 5 10.1 TK2 PLEKHG4
14 spinocerebellar ataxia, x-linked 4 10.1 TK2 PLEKHG4
15 spinocerebellar ataxia, x-linked 3 10.1 TK2 PLEKHG4
16 creutzfeldt-jakob disease 10.1
17 supranuclear palsy, progressive, 1 10.1
18 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
19 aspiration pneumonia 10.1
20 parkinsonism 10.1
21 respiratory failure 10.1
22 hereditary spastic paraplegia 10.1
23 blepharospasm 10.1
24 neuromyelitis optica 10.1
25 rem sleep behavior disorder 10.1
26 pathologic nystagmus 10.1
27 cerebellar degeneration 10.1
28 dysautonomia 10.1
29 tremor 10.1
30 ataxia and polyneuropathy, adult-onset 10.0
31 paraplegia 10.0
32 multiple system atrophy 1 9.9
33 spinocerebellar ataxia 4 9.9
34 motor neuron disease 9.9
35 spinocerebellar ataxia 2 9.8 CACNA1A C9orf72
36 spinocerebellar ataxia, autosomal recessive 4 9.8 DAB1 CACNA1A
37 myotonic disease 9.8 C9orf72 ATXN10
38 adolescence-adult electroclinical syndrome 9.8 DAB1 CACNA1A
39 choreatic disease 9.7 CACNA1A C9orf72
40 spinal and bulbar muscular atrophy, x-linked 1 9.7 CACNA1A C9orf72 ATXN10
41 x-linked hereditary ataxia 9.7 NOP56 C9orf72 ATXN10
42 myotonic dystrophy 2 9.7 NOP56 C9orf72 ATXN10
43 fragile x-associated tremor/ataxia syndrome 9.7 NOP56 C9orf72 ATXN10
44 spinocerebellar ataxia 8 9.6 NOP56 C9orf72 ATXN10
45 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 9.6 NOP56 C9orf72 ATXN10
46 cerebellar ataxia type 9 9.6 PLEKHG4 DAB1 ATXN10
47 spinocerebellar ataxia 37 9.5 NOP56 DAB1 ATXN10
48 huntington disease-like 2 9.5 NOP56 CACNA1A C9orf72 ATXN10
49 cerebellar disease 9.3 PLEKHG4 NOP56 CACNA1A C9orf72 ATXN10
50 fuchs' endothelial dystrophy 9.2 NOP56 DAB1 C9orf72 ATXN10

Graphical network of the top 20 diseases related to Spinocerebellar Ataxia 31:



Diseases related to Spinocerebellar Ataxia 31

Symptoms & Phenotypes for Spinocerebellar Ataxia 31

Human phenotypes related to Spinocerebellar Ataxia 31:

58 31 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysarthria 58 31 hallmark (90%) Very frequent (99-80%) HP:0001260
2 gait ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002066
3 cerebellar atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0001272
4 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
5 hyporeflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001265
6 gaze-evoked horizontal nystagmus 31 frequent (33%) HP:0007979
7 spasticity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001257
8 tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0001337
9 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
10 impaired vibratory sensation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002495
11 hyperactive deep tendon reflexes 58 31 occasional (7.5%) Occasional (29-5%) HP:0006801
12 sensorineural hearing impairment 31 occasional (7.5%) HP:0000407
13 hyperreflexia 58 Occasional (29-5%)
14 ataxia 31 HP:0001251
15 limb ataxia 31 HP:0002070

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
nystagmus
dysarthria
gait ataxia
cerebellar atrophy
limb ataxia
more
Head And Neck Eyes:
gaze-evoked horizontal nystagmus (not always present)

Head And Neck Ears:
hearing loss, late-onset sensorineural, mild-to moderate (less common)

Clinical features from OMIM®:

117210 (Updated 05-Apr-2021)

UMLS symptoms related to Spinocerebellar Ataxia 31:


gait ataxia

GenomeRNAi Phenotypes related to Spinocerebellar Ataxia 31 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased West Nile virus (WNV) infection GR00348-A-3 8.8 BEAN1 CACNA1A NOP56

Drugs & Therapeutics for Spinocerebellar Ataxia 31

Search Clinical Trials , NIH Clinical Center for Spinocerebellar Ataxia 31

Genetic Tests for Spinocerebellar Ataxia 31

Genetic tests related to Spinocerebellar Ataxia 31:

# Genetic test Affiliating Genes
1 Spinocerebellar Ataxia Type 31 29 BEAN1

Anatomical Context for Spinocerebellar Ataxia 31

MalaCards organs/tissues related to Spinocerebellar Ataxia 31:

40
Cerebellum, Eye, Spinal Cord

Publications for Spinocerebellar Ataxia 31

Articles related to Spinocerebellar Ataxia 31:

(show all 46)
# Title Authors PMID Year
1
Spinocerebellar ataxia type 31 is associated with "inserted" penta-nucleotide repeats containing (TGGAA)n. 57 6 61
19878914 2009
2
Clinical and genetic characterization of 16q-linked autosomal dominant spinocerebellar ataxia in South Kyushu, Japan. 57
19444286 2009
3
Spectrum and prevalence of autosomal dominant spinocerebellar ataxia in Hokkaido, the northern island of Japan: a study of 113 Japanese families. 57
17805477 2007
4
Redefining the disease locus of 16q22.1-linked autosomal dominant cerebellar ataxia. 57
17611710 2007
5
16q-linked autosomal dominant cerebellar ataxia: a clinical and genetic study. 57
16780885 2006
6
A -16C>T substitution in the 5' UTR of the puratrophin-1 gene is prevalent in autosomal dominant cerebellar ataxia in Nagano. 57
16614795 2006
7
An autosomal dominant cerebellar ataxia linked to chromosome 16q22.1 is associated with a single-nucleotide substitution in the 5' untranslated region of the gene encoding a protein with spectrin repeat and Rho guanine-nucleotide exchange-factor domains. 57
16001362 2005
8
A clinical, genetic, and neuropathologic study in a family with 16q-linked ADCA type III. 57
16116133 2005
9
Fine mapping of 16q-linked autosomal dominant cerebellar ataxia type III in Japanese families. 57
15455264 2004
10
Physical map and haplotype analysis of 16q-linked autosomal dominant cerebellar ataxia (ADCA) type III in Japan. 57
12624721 2003
11
A gene on SCA4 locus causes dominantly inherited pure cerebellar ataxia. 57
10822439 2000
12
Autosomal dominant pure cerebellar ataxia. Neurological and genetic study. 57
1486455 1992
13
The clinical features and classification of the late onset autosomal dominant cerebellar ataxias. A study of 11 families, including descendants of the 'the Drew family of Walworth'. 57
7066668 1982
14
Hereditary cerebello-olivary degeneration of late onset. 57
5535038 1970
15
Midbrain atrophy related to parkinsonism in a non-coding repeat expansion disorder: five cases of spinocerebellar ataxia type 31 with nigrostriatal dopaminergic dysfunction. 61
33785066 2021
16
Small molecule targeting r(UGGAA)n disrupts RNA foci and alleviates disease phenotype in Drosophila model. 61
33431896 2021
17
Comorbid argyrophilic grain disease in an 87-year-old male with spinocerebellar ataxia type 31 with dementia: a case report. 61
32293309 2020
18
Molecular Mechanisms and Future Therapeutics for Spinocerebellar Ataxia Type 31 (SCA31). 61
31755042 2019
19
Spinocerebellar ataxia type 31 associated with REM sleep behavior disorder: a case report. 61
30634945 2019
20
Spinocerebellar Ataxia Type 31 with Blepharospasm. 61
29434122 2018
21
[Analysis of spinocerebellar ataxia type 31 related mutations among patients from mainland China]. 61
29896721 2018
22
Case Report: A patient with spinocerebellar ataxia type 31 and sporadic Creutzfeldt-Jakob disease. 61
29411683 2018
23
Inter-generational instability of inserted repeats during transmission in spinocerebellar ataxia type 31. 61
28638142 2017
24
Neuromyelitis Optica Spectrum Disorder Coinciding with Spinocerebellar Ataxia Type 31. 61
28626410 2017
25
Regulatory Role of RNA Chaperone TDP-43 for RNA Misfolding and Repeat-Associated Translation in SCA31. 61
28343865 2017
26
Natural History of Spinocerebellar Ataxia Type 31: a 4-Year Prospective Study. 61
27830516 2017
27
SCA31 Flies Perform in a Balancing Act between RAN Translation and RNA-Binding Proteins. 61
28384473 2017
28
Co-existence of spastic paraplegia-30 with novel KIF1A mutation and spinocerebellar ataxia 31 with intronic expansion of BEAN and TK2 in a family. 61
28017198 2017
29
Autopsy case of spinocerebellar ataxia type 31 with severe dementia at the terminal stage. 61
25495291 2015
30
Rare frequency of downbeat positioning nystagmus in spinocerebellar ataxia type 31. 61
25684342 2015
31
Clinical characteristics of combined cases of spinocerebellar ataxia types 6 and 31. 61
26004545 2015
32
[A case of 77-year-old male with spinocerebellar ataxia type 31 with left dominant dystonia]. 61
26103820 2015
33
Distinctive features of degenerating Purkinje cells in spinocerebellar ataxia type 31. 61
24344778 2014
34
[A case of 77-year-old male with spinocerebellar ataxia type 31 with left dominant dystonia]. 61
25142535 2014
35
[Clinical features and MRI findings in spinocerebellar ataxia type 31 (SCA31) comparing with spinocerebellar ataxia type 6 (SCA6)]. 61
24990830 2014
36
Voiding Dysfunction in Spinocerebellar Ataxia Type 31. 61
26663503 2014
37
Abnormal RNA structures (RNA foci) containing a penta-nucleotide repeat (UGGAA)n in the Purkinje cell nucleus is associated with spinocerebellar ataxia type 31 pathogenesis. 61
23607545 2013
38
Pentanucleotide repeat-primed PCR for genetic diagnosis of spinocerebellar ataxia type 31. 61
22992774 2012
39
Spinocerebellar ataxia type 31 exists in northeast China. 61
22353852 2012
40
Mutations in rare ataxia genes are uncommon causes of sporadic cerebellar ataxia. 61
22287014 2012
41
[Dissecting molecular mechanism of spinocerebellar ataxia type 31]. 61
22277505 2011
42
Pentanucleotide repeats at the spinocerebellar ataxia type 31 (SCA31) locus in Caucasians. 61
22049201 2011
43
Two dominantly inherited ataxias linked to chromosome 16q22.1: SCA4 and SCA31 are not allelic. 61
21267591 2011
44
Comparisons of acoustic function in SCA31 and other forms of ataxias. 61
21535943 2011
45
[Spinocerebellar ataxia type 31]. 61
21921537 2010
46
Analysis of an insertion mutation in a cohort of 94 patients with spinocerebellar ataxia type 31 from Nagano, Japan. 61
20424877 2010

Variations for Spinocerebellar Ataxia 31

ClinVar genetic disease variations for Spinocerebellar Ataxia 31:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 BEAN1 BEAN1, 2.5- TO 3.8-KB INS Insertion Pathogenic 733 GRCh37:
GRCh38:
2 PLEKHG4 NM_001129729.3(PLEKHG4):c.-16C>T SNV Uncertain significance 1635 rs886041026 GRCh37: 16:67313932-67313932
GRCh38: 16:67280029-67280029

Expression for Spinocerebellar Ataxia 31

Search GEO for disease gene expression data for Spinocerebellar Ataxia 31.

Pathways for Spinocerebellar Ataxia 31

Pathways related to Spinocerebellar Ataxia 31 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.18 NOP56 DAB1 CACNA1A BEAN1 ATXN10

GO Terms for Spinocerebellar Ataxia 31

Cellular components related to Spinocerebellar Ataxia 31 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neuronal cell body GO:0043025 8.8 DAB1 CACNA1A ATXN10

Sources for Spinocerebellar Ataxia 31

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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