MCID: SPN299
MIFTS: 36

Spinocerebellar Ataxia 20

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

Aliases & Classifications for Spinocerebellar Ataxia 20

MalaCards integrated aliases for Spinocerebellar Ataxia 20:

Name: Spinocerebellar Ataxia 20 57 53 75 29 73
Spinocerebellar Ataxia Type 20 12 24 53 59 15
Sca20 57 24 53 59 75
Spinocerebellar Ataxia with Spasmodic Cough 57 75
Spinocerebellar Ataxia with Dysphonia 57 75
Chromosome 11q12 Duplication Syndrome, 260-Kb 57
Chromosome 11q12 Duplication Syndrome 260-Kb 75

Characteristics:

Orphanet epidemiological data:

59
spinocerebellar ataxia type 20
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
spinocerebellar ataxia 20:
Onset and clinical course adult onset slow progression
Inheritance autosomal dominant inheritance


GeneReviews:

24
Penetrance The penetrance is unknown, as the involved gene has not been identified...

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 608687
Disease Ontology 12 DOID:0050971
Orphanet 59 ORPHA101110
MESH via Orphanet 45 C537199
UMLS via Orphanet 74 C1837541
ICD10 via Orphanet 34 G11.2
MedGen 42 C1837541
MeSH 44 D020754
UMLS 73 C1837541

Summaries for Spinocerebellar Ataxia 20

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 101110Disease definitionSpinocerebellar 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.EpidemiologyPrevalence is unknown. Fewer than 20 cases in a 4-generation Australian family of Anglo-Celtic descent have been reported to date.Clinical descriptionAge 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.EtiologySCA20 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.PrognosisPrognosis is relatively good. Most patients can walk with or without gait aids and many patients live to more than 60 years of age.Visit the Orphanet disease page for more resources.

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

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)

UniProtKB/Swiss-Prot : 75 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, 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 20 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia, autosomal recessive 20 11.6
2 autosomal dominant cerebellar ataxia 10.0
3 autosomal recessive cerebellar ataxia 9.0 SNX14 SPTBN2

Symptoms & Phenotypes for Spinocerebellar Ataxia 20

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
gait ataxia
action tremor
postural tremor
hypermetric saccades
nystagmus, mild
more
Voice:
high-pitched voice
dysphonia, spasmodic

Head And Neck Eyes:
hypermetric saccades
nystagmus, mild


Clinical features from OMIM:

608687

Human phenotypes related to Spinocerebellar Ataxia 20:

59 32 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysarthria 59 32 hallmark (90%) Very frequent (99-80%) HP:0001260
2 cerebellar atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0001272
3 dysphonia 59 32 Frequent (79-30%) HP:0001618
4 bradykinesia 59 32 frequent (33%) Frequent (79-30%) HP:0002067
5 cerebral calcification 59 32 frequent (33%) Frequent (79-30%) HP:0002514
6 hypermetric saccades 59 32 frequent (33%) Frequent (79-30%) HP:0007338
7 laryngeal dystonia 59 32 frequent (33%) Frequent (79-30%) HP:0012049
8 gaze-evoked nystagmus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000640
9 hyperreflexia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001347
10 gait ataxia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002066
11 vertigo 59 32 occasional (7.5%) Occasional (29-5%) HP:0002321
12 abnormal pyramidal signs 59 32 occasional (7.5%) Occasional (29-5%) HP:0007256
13 upper limb postural tremor 59 32 occasional (7.5%) Occasional (29-5%) HP:0007351
14 downbeat nystagmus 59 32 occasional (7.5%) Occasional (29-5%) HP:0010545
15 isometric tremor 59 32 occasional (7.5%) Occasional (29-5%) HP:0030185
16 intention tremor 59 32 very rare (1%) Very rare (<4-1%) HP:0002080
17 tremor by anatomical site 59 Frequent (79-30%)
18 ataxia 59 Occasional (29-5%)
19 kinetic tremor 59 Occasional (29-5%)
20 nystagmus 32 HP:0000639
21 high pitched voice 32 HP:0001620
22 limb ataxia 32 HP:0002070
23 postural tremor 32 HP:0002174
24 palatal myoclonus 32 HP:0010530

UMLS symptoms related to Spinocerebellar Ataxia 20:


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

Drugs & Therapeutics for Spinocerebellar Ataxia 20

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 20

Genetic Tests for Spinocerebellar Ataxia 20

Genetic tests related to Spinocerebellar Ataxia 20:

# Genetic test Affiliating Genes
1 Spinocerebellar Ataxia 20 29

Anatomical Context for Spinocerebellar Ataxia 20

MalaCards organs/tissues related to Spinocerebellar Ataxia 20:

41
Cerebellum, Eye, Spinal Cord, Brain

Publications for Spinocerebellar Ataxia 20

Articles related to Spinocerebellar Ataxia 20:

# Title Authors Year
1
SNX14 mutations affect endoplasmic reticulum-associated neutral lipid metabolism in autosomal recessive spinocerebellar ataxia 20. ( 29635513 )
2018
2
Autosomal recessive spinocerebellar ataxia 20: Report of a new patient and review of literature. ( 27913285 )
2017
3
Spinocerebellar ataxia type 20. ( 21827916 )
2012
4
A duplication at chromosome 11q12.2-11q12.3 is associated with spinocerebellar ataxia type 20. ( 18801880 )
2008
5
Spinocerebellar ataxia type 20 is genetically distinct from spinocerebellar ataxia type 5. ( 17159129 )
2006
6
Spinocerebellar ataxia type 20. ( 15895561 )
2005
7
Dominantly inherited ataxia and dysphonia with dentate calcification: spinocerebellar ataxia type 20. ( 14998916 )
2004
8
Spinocerebellar Ataxia Type 20 ( 20301644 )
1993

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 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
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