SCA20
MCID: SPN299
MIFTS: 33

Spinocerebellar Ataxia 20 (SCA20)

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 20

MalaCards integrated aliases for Spinocerebellar Ataxia 20:

Name: Spinocerebellar Ataxia 20 57 20 72 13 70
Spinocerebellar Ataxia Type 20 12 25 20 58 29 15
Sca20 57 25 20 58 72
Spinocerebellar Ataxia with Spasmodic Cough 57 72
Spinocerebellar Ataxia with Dysphonia 57 72
Chromosome 11q12 Duplication Syndrome, 260-Kb 57
Chromosome 11q12 Duplication Syndrome 260-Kb 72

Characteristics:

Orphanet epidemiological data:

58
spinocerebellar ataxia type 20
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
slow progression
mean age at onset 46.5 years (range 19-64)
dysarthria, dysphonia, or cough precede onset of ataxia

Inheritance:
autosomal dominant


HPO:

31
spinocerebellar ataxia 20:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset slow progression


GeneReviews:

25
Penetrance The penetrance is unknown, as the involved gene has not been identified.

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0050971
OMIM® 57 608687
OMIM Phenotypic Series 57 PS164400
MeSH 44 D020754
MESH via Orphanet 45 C537199
ICD10 via Orphanet 33 G11.2
UMLS via Orphanet 71 C1837541
Orphanet 58 ORPHA101110
MedGen 41 C1837541
UMLS 70 C1837541

Summaries for Spinocerebellar Ataxia 20

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 101110 Definition Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar dysarthria as the initial typical manifestation. Epidemiology Prevalence is unknown. Fewer than 20 cases in a 4-generation Australian family of Anglo-Celtic descent have been reported to date. Clinical description Age of symptomatic disease onset ranges from 19 to 64 years (mean age = 46.5 years). Most affected patients also exhibit palatal tremor and spasmodic dysphonia. Head computed tomography (CT) shows dentate calcifications. Etiology SCA20 has been linked to chromosome 11q12.2-11q12.3, overlapping with the locus for SCA5 (see this term), though clinical features differ. SCA5 belongs to type III ADCA (see this term) and represents a pure ataxia syndrome with on average earlier age of symptomatic disease onset ranging from 14 to 50 years. Since the causative gene is unknown, SCA20 and SCA5 may be proven genetically to be the same disorder. Prognosis Prognosis is relatively good. Most patients can walk with or without gait aids and many patients live to more than 60 years of age.

MalaCards based summary : Spinocerebellar Ataxia 20, also known as spinocerebellar ataxia type 20, is related to autosomal recessive cerebellar ataxia and autosomal dominant cerebellar ataxia, and has symptoms including gait ataxia, action tremor and static tremor. An important gene associated with Spinocerebellar Ataxia 20 is SCA20 (Spinocerebellar Ataxia 20). Affiliated tissues include eye, cerebellum and spinal cord, and related phenotypes are dysarthria and cerebral calcification

Disease Ontology : 12 An autosomal dominant cerebellar ataxia that is characterized by cerebellar dysarthria.

OMIM® : 57 SCA20 is an autosomal dominant adult-onset disorder characterized by dysarthria due to spasmodic dysphonia followed by slowly progressive ataxia (summary by Knight et al., 2004). For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400). (608687) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 Spinocerebellar ataxia 20: 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. SCA20 is an autosomal dominant, adult-onset form characterized by dysarthria due to spasmodic dysphonia followed by slowly progressive ataxia.

GeneReviews: NBK1471

Related Diseases for Spinocerebellar Ataxia 20

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

(show all 18)
# Related Disease Score Top Affiliating Genes
1 autosomal recessive cerebellar ataxia 29.5 SPTBN2 SNX14
2 autosomal dominant cerebellar ataxia 29.4 TMEM240 SPTBN2 POLG
3 spinocerebellar ataxia, autosomal recessive 20 11.6
4 spasmodic dysphonia 10.3
5 tremor 10.3
6 ataxia and polyneuropathy, adult-onset 10.2
7 alacrima, achalasia, and mental retardation syndrome 10.1
8 spinocerebellar ataxia 5 10.1
9 dystonia 10.0
10 spinocerebellar ataxia 13 9.9 SPTBN2 SNX14
11 spinocerebellar ataxia 18 9.9 TMEM240 SPTBN2
12 spinocerebellar ataxia 23 9.8 TMEM240 SPTBN2
13 mitochondrial dna depletion syndrome 7 9.7 SPTBN2 POLG
14 marinesco-sjogren syndrome 9.6 SPTBN2 POLG
15 hereditary ataxia 9.6 TMEM240 SPTBN2 SNX14
16 cerebellar disease 9.5 SPTBN2 SNX14 POLG
17 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 9.5 TMEM240 POLG
18 dentatorubral-pallidoluysian atrophy 9.4 TMEM240 SPTBN2 POLG

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



Diseases related to Spinocerebellar Ataxia 20

Symptoms & Phenotypes for Spinocerebellar Ataxia 20

Human phenotypes related to Spinocerebellar Ataxia 20:

58 31 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysarthria 58 31 hallmark (90%) Very frequent (99-80%) HP:0001260
2 cerebral calcification 58 31 frequent (33%) Frequent (79-30%) HP:0002514
3 cerebellar atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0001272
4 bradykinesia 58 31 frequent (33%) Frequent (79-30%) HP:0002067
5 laryngeal dystonia 58 31 frequent (33%) Frequent (79-30%) HP:0012049
6 hypermetric saccades 58 31 frequent (33%) Frequent (79-30%) HP:0007338
7 hyperreflexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001347
8 abnormal pyramidal sign 58 31 occasional (7.5%) Occasional (29-5%) HP:0007256
9 vertigo 58 31 occasional (7.5%) Occasional (29-5%) HP:0002321
10 gait ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002066
11 upper limb postural tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0007351
12 gaze-evoked nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000640
13 downbeat nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0010545
14 isometric tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0030185
15 intention tremor 58 31 very rare (1%) Very rare (<4-1%) HP:0002080
16 dysphonia 58 31 Frequent (79-30%) HP:0001618
17 nystagmus 31 HP:0000639
18 ataxia 58 Occasional (29-5%)
19 high pitched voice 31 HP:0001620
20 limb ataxia 31 HP:0002070
21 postural tremor 31 HP:0002174
22 kinetic tremor 58 Occasional (29-5%)
23 tremor by anatomical site 58 Frequent (79-30%)
24 palatal myoclonus 31 HP:0010530

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
gait ataxia
postural tremor
action tremor
hypermetric saccades
palatal myoclonus
more
Voice:
high-pitched voice
dysphonia, spasmodic

Head And Neck Eyes:
hypermetric saccades
nystagmus, mild

Clinical features from OMIM®:

608687 (Updated 05-Apr-2021)

UMLS symptoms related to Spinocerebellar Ataxia 20:


gait ataxia; action tremor; static tremor; myoclonus, palatal

Drugs & Therapeutics for Spinocerebellar Ataxia 20

Search Clinical Trials , NIH Clinical Center for Spinocerebellar Ataxia 20

Genetic Tests for Spinocerebellar Ataxia 20

Genetic tests related to Spinocerebellar Ataxia 20:

# Genetic test Affiliating Genes
1 Spinocerebellar Ataxia Type 20 29

Anatomical Context for Spinocerebellar Ataxia 20

MalaCards organs/tissues related to Spinocerebellar Ataxia 20:

40
Eye, Cerebellum, Spinal Cord, Brain

Publications for Spinocerebellar Ataxia 20

Articles related to Spinocerebellar Ataxia 20:

(show all 16)
# Title Authors PMID Year
1
A duplication at chromosome 11q12.2-11q12.3 is associated with spinocerebellar ataxia type 20. 57 25 61
18801880 2008
2
Spinocerebellar ataxia type 20 is genetically distinct from spinocerebellar ataxia type 5. 61 25 57
17159129 2006
3
Dominantly inherited ataxia and dysphonia with dentate calcification: spinocerebellar ataxia type 20. 61 25 57
14998916 2004
4
Cerebellar ataxia with spasmodic cough: a new form of dominant ataxia. 61 57
16606768 2006
5
Spinocerebellar ataxia type 20. 25 61
21827916 2012
6
Spinocerebellar ataxia type 20. 61 25
15895561 2005
7
Adult-onset familial laryngeal abductor paralysis, cerebellar ataxia, and pure motor neuropathy. 25
11376202 2001
8
Hereditary branchial myoclonus with spastic paraparesis and cerebellar ataxia: a new autosomal dominant disorder. 25
3352913 1988
9
Syndrome of palatal myoclonus and progressive ataxia: two cases with magnetic resonance imaging. 25
4022358 1985
10
The significance of the incidental finding of basal ganglia calcification on computed tomography. 25
7334414 1981
11
Two Compound Heterozygous Variants in SNX14 Cause Stereotypies and Dystonia in Autosomal Recessive Spinocerebellar Ataxia 20. 61
33193593 2020
12
SNX14 mutations affect endoplasmic reticulum-associated neutral lipid metabolism in autosomal recessive spinocerebellar ataxia 20. 61
29635513 2018
13
Congenital Disorders of Autophagy: What a Pediatric Neurologist Should Know. 61
29112993 2018
14
Autosomal recessive spinocerebellar ataxia 20: Report of a new patient and review of literature. 61
27913285 2017
15
Hypertrophic Olivary Degeneration and Palatal or Oculopalatal Tremor. 61
28706504 2017
16
Extensive intracranial calcifications in a patient with a novel polymerase γ-1 mutation. 61
23836942 2013

Variations for Spinocerebellar Ataxia 20

Expression for Spinocerebellar Ataxia 20

Search GEO for disease gene expression data for Spinocerebellar Ataxia 20.

Pathways for Spinocerebellar Ataxia 20

GO Terms for Spinocerebellar Ataxia 20

Sources for Spinocerebellar Ataxia 20

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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