MCID: SPN296
MIFTS: 46

Spinocerebellar Ataxia 17

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 17

MalaCards integrated aliases for Spinocerebellar Ataxia 17:

Name: Spinocerebellar Ataxia 17 57 53 75 29 13 6 73
Spinocerebellar Ataxia Type 17 12 24 53 59 15
Sca17 57 24 59 75 55
Huntington Disease-Like 4 57 24 59 75
Hdl4 57 24 59 75
Ataxia, Spinocerebellar, Type 17 40
Huntington Disease-Like 4; Hdl4 57
Sca 17 53

Characteristics:

Orphanet epidemiological data:

59
spinocerebellar ataxia type 17
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide),<1/1000000 (Japan),1-9/1000000 (United Kingdom); Age of onset: All ages;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
progressive disorder
median age at onset 23 years
psychiatric symptoms may be the presenting sign
normal alleles have 25 to 44 repeats
mutant alleles have 47 to 63 repeats
those with intermediate repeat expansions show reduced penetrance


HPO:

32
spinocerebellar ataxia 17:
Onset and clinical course progressive
Inheritance autosomal dominant inheritance


GeneReviews:

24
Penetrance The penetrance of alleles of 41 to 44 repeats is estimated at 50% and the penetrance of alleles of 45 to 48 repeats is estimated at greater than 80% [toyoshima et al 2004]...

Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Spinocerebellar Ataxia 17

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 98759Disease definitionSpinocerebellar ataxia type 17 (SCA17) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy.EpidemiologyWorldwide prevalence is unknown. Local prevalence is 0.47 per 1,000,000 in the Japanese population and 0.16 per 100,000 in North-East England. Fewer than 100 families have been reported to date.Clinical descriptionClinical features overlap with many neurodegenerative syndromes and specifically, Huntington disease (see this term).EtiologySCA17 is caused by a CAG repeat expansion in the TATA box-binding proteingeneTBP (6q27).PrognosisPrognosis is poor. More than 60% of patients present with dysphagia which frequently results in aspiration and death. Mean disease duration is less than 18 years and a few patients live beyond 60 years of age.Visit the Orphanet disease page for more resources.

MalaCards based summary : Spinocerebellar Ataxia 17, also known as spinocerebellar ataxia type 17, is related to autosomal dominant cerebellar ataxia and huntington disease, and has symptoms including myoclonus, seizures and bradykinesia. An important gene associated with Spinocerebellar Ataxia 17 is TBP (TATA-Box Binding Protein). Affiliated tissues include eye, spinal cord and cerebellum, and related phenotypes are ataxia and spasticity

OMIM : 57 SCA17 is an autosomal dominant neurologic disorder characterized by ataxia, pyramidal and extrapyramidal signs, cognitive impairments, psychosis, and seizures. Its clinical phenotype and inheritance pattern are similar to Huntington disease (HD; 143100). Individuals with normal TBP alleles have between 25 and 44 repeats, whereas SCA17 patients have between 47 and 63 repeats. Reduced penetrance is seen with 45 to 46 repeats (summary by Gao et al. (2008)). For a general discussion of autosomal dominant of spinocerebellar ataxia, see SCA1 (164400). (607136)

UniProtKB/Swiss-Prot : 75 Spinocerebellar ataxia 17: 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. SCA17 is an autosomal dominant cerebellar ataxia (ADCA) characterized by widespread cerebral and cerebellar atrophy, dementia and extrapyramidal signs. The molecular defect in SCA17 is the expansion of a CAG repeat in the coding region of TBP. Longer expansions result in earlier onset and more severe clinical manifestations of the disease.

GeneReviews: NBK1438

Related Diseases for Spinocerebellar Ataxia 17

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

(show all 24)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant cerebellar ataxia 27.6 ATN1 ATXN3 ATXN7 CACNA1A TBP
2 huntington disease 27.2 ATN1 ATXN3 HAP1 JPH3 TBP
3 huntington disease-like syndrome 11.3
4 spinocerebellar ataxia, autosomal recessive 17 11.1
5 choreatic disease 10.1 JPH3 TBP
6 focal dystonia 9.9
7 dystonia 9.9
8 neuronitis 9.9
9 friedreich ataxia 1 9.4 ATXN3 CACNA1A
10 spinal and bulbar muscular atrophy, x-linked 1 9.4 ATXN3 ATXN7
11 central nervous system disease 9.3 ATXN3 CACNA1A
12 restless legs syndrome 9.2 ATXN3 CACNA1A
13 nervous system disease 9.0 ATXN3 CACNA1A
14 spinocerebellar ataxia 18 8.9 ATXN3 ATXN7 CACNA1A
15 spinocerebellar ataxia 6 8.9 ATXN3 ATXN7 CACNA1A
16 spinocerebellar ataxia 2 8.9 ATXN3 ATXN7 CACNA1A
17 spinocerebellar ataxia 31 8.8 ATXN3 ATXN7 CACNA1A
18 cerebellar disease 8.8 ATXN3 ATXN7 CACNA1A
19 aceruloplasminemia 8.5 ATXN3 ATXN7 CACNA1A TBP
20 spinocerebellar ataxia 1 8.3 ATN1 ATXN3 ATXN7 CACNA1A
21 machado-joseph disease 8.3 ATN1 ATXN3 ATXN7 CACNA1A
22 spinocerebellar ataxia 12 7.9 ATN1 ATXN3 ATXN7 CACNA1A TBP
23 hereditary ataxia 7.9 ATN1 ATXN3 ATXN7 CACNA1A TBP
24 dentatorubral-pallidoluysian atrophy 7.4 ATN1 ATXN3 ATXN7 CACNA1A JPH3 TBP

Graphical network of the top 20 diseases related to Spinocerebellar Ataxia 17:



Diseases related to Spinocerebellar Ataxia 17

Symptoms & Phenotypes for Spinocerebellar Ataxia 17

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
dysarthria
dysphagia
chorea
myoclonus
more
Head And Neck Eyes:
impaired pursuit initiation and maintenance
gaze-evoked nystagmus (33%)
increased error rates of antisaccades (50%)
increased error rates of memory-guided saccades (40%)

Neurologic Behavioral Psychiatric Manifestations:
hallucinations
paranoia
mutism
frontal lobe dementia
lack of insight
more
Genitourinary Bladder:
incontinence (in late stages)


Clinical features from OMIM:

607136

Human phenotypes related to Spinocerebellar Ataxia 17:

59 32 (show all 45)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001251
2 spasticity 59 32 frequent (33%) Frequent (79-30%) HP:0001257
3 gait disturbance 59 32 hallmark (90%) Very frequent (99-80%) HP:0001288
4 chorea 59 32 frequent (33%) Frequent (79-30%) HP:0002072
5 abnormal pyramidal signs 59 32 frequent (33%) Frequent (79-30%) HP:0007256
6 behavioral abnormality 59 32 frequent (33%) Frequent (79-30%) HP:0000708
7 dystonia 59 32 Frequent (79-30%) HP:0001332
8 rigidity 59 32 frequent (33%) Frequent (79-30%) HP:0002063
9 mental deterioration 59 32 frequent (33%) Frequent (79-30%) HP:0001268
10 blepharospasm 59 32 frequent (33%) Frequent (79-30%) HP:0000643
11 writer's cramp 59 32 frequent (33%) Frequent (79-30%) HP:0002356
12 cerebellar atrophy 59 32 Frequent (79-30%) HP:0001272
13 torticollis 59 32 frequent (33%) Frequent (79-30%) HP:0000473
14 atrophy/degeneration affecting the brainstem 59 32 frequent (33%) Frequent (79-30%) HP:0007366
15 parkinsonism 59 32 frequent (33%) Frequent (79-30%) HP:0001300
16 generalized cerebral atrophy/hypoplasia 59 32 frequent (33%) Frequent (79-30%) HP:0007058
17 neuronal loss in central nervous system 59 32 frequent (33%) Frequent (79-30%) HP:0002529
18 cerebellar purkinje layer atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0012082
19 depressivity 32 HP:0000716
20 seizures 32 HP:0001250
21 dysarthria 32 HP:0001260
22 dysphagia 32 HP:0002015
23 hallucinations 32 HP:0000738
24 myoclonus 32 HP:0001336
25 gait ataxia 32 HP:0002066
26 limb ataxia 32 HP:0002070
27 dysmetria 32 HP:0001310
28 intention tremor 32 HP:0002080
29 paranoia 32 HP:0011999
30 apraxia 32 HP:0002186
31 aggressive behavior 32 HP:0000718
32 involuntary movements 59 Frequent (79-30%)
33 bradykinesia 32 HP:0002067
34 urinary incontinence 32 HP:0000020
35 confusion 32 HP:0001289
36 gliosis 32 HP:0002171
37 mutism 32 HP:0002300
38 broad-based gait 32 HP:0002136
39 gaze-evoked nystagmus 32 HP:0000640
40 frontal lobe dementia 32 HP:0000727
41 lack of insight 32 HP:0000757
42 diffuse cerebral atrophy 32 HP:0002506
43 frontal release signs 32 HP:0000743
44 positive romberg sign 32 HP:0002403
45 impaired pursuit initiation and maintenance 32 HP:0007668

UMLS symptoms related to Spinocerebellar Ataxia 17:


myoclonus, seizures, bradykinesia, action tremor, gait ataxia

MGI Mouse Phenotypes related to Spinocerebellar Ataxia 17:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.8 ATN1 ATXN3 ATXN7 CACNA1A HAP1 JPH3
2 growth/size/body region MP:0005378 9.63 ATN1 ATXN7 CACNA1A HAP1 JPH3 TBP
3 mortality/aging MP:0010768 9.43 ATN1 ATXN7 CACNA1A HAP1 JPH3 TBP
4 nervous system MP:0003631 9.17 ATN1 ATXN3 ATXN7 CACNA1A HAP1 JPH3

Drugs & Therapeutics for Spinocerebellar Ataxia 17

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 17

Genetic Tests for Spinocerebellar Ataxia 17

Genetic tests related to Spinocerebellar Ataxia 17:

# Genetic test Affiliating Genes
1 Spinocerebellar Ataxia 17 29 TBP

Anatomical Context for Spinocerebellar Ataxia 17

MalaCards organs/tissues related to Spinocerebellar Ataxia 17:

41
Eye, Spinal Cord, Cerebellum, Brain

Publications for Spinocerebellar Ataxia 17

Articles related to Spinocerebellar Ataxia 17:

(show all 16)
# Title Authors Year
1
Spinocerebellar ataxia 17: full phenotype in a 41 CAG/CAA repeats carrier. ( 29564144 )
2018
2
Synergistic Toxicity of Polyglutamine-Expanded TATA-Binding Protein in Glia and Neuronal Cells: Therapeutic Implications for Spinocerebellar Ataxia 17. ( 28821675 )
2017
3
Molecular mechanisms underlying Spinocerebellar Ataxia 17 (SCA17) pathogenesis. ( 28032013 )
2016
4
From mild ataxia to huntington disease phenocopy: the multiple faces of spinocerebellar ataxia 17. ( 25349749 )
2014
5
Spinocerebellar ataxia 17: Inconsistency between phenotype and neuroimage findings. ( 24339615 )
2013
6
Regulation of BACE1 by miR-29a/b in a cellular model of Spinocerebellar Ataxia 17. ( 22664922 )
2012
7
Investigating function and connectivity of morphometric findings--exemplified on cerebellar atrophy in spinocerebellar ataxia 17 (SCA17). ( 22659444 )
2012
8
CAG repeats determine brain atrophy in spinocerebellar ataxia 17: a VBM study. ( 21311576 )
2011
9
Structural changes associated with progression of motor deficits in spinocerebellar ataxia 17. ( 20016963 )
2010
10
Spinocerebellar ataxia 17 (SCA17) and Huntington's disease-like 4 (HDL4). ( 18418687 )
2008
11
Difficulty identifying spinocerebellar ataxia 17 from preceding psychiatric symptoms. ( 18950389 )
2008
12
Electrophysiologic characterization in spinocerebellar ataxia 17. ( 16567717 )
2006
13
Characterization of nigrostriatal dysfunction in spinocerebellar ataxia 17. ( 16532453 )
2006
14
Morphological basis for the spectrum of clinical deficits in spinocerebellar ataxia 17 (SCA17). ( 16760196 )
2006
15
Minimum prevalence of spinocerebellar ataxia 17 in the north east of England. ( 16223509 )
2005
16
Focal dystonia as a presenting sign of spinocerebellar ataxia 17. ( 14978680 )
2004

Variations for Spinocerebellar Ataxia 17

ClinVar genetic disease variations for Spinocerebellar Ataxia 17:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TBP NM_003194.4(TBP): c.172_174CAG(25_42) (p.Gln95(25_42)) NT expansion Pathogenic,risk factor rs193922935 GRCh37 Chromosome 6, 170870996: 170870998
2 TBP NM_003194.4(TBP): c.172_174CAG(25_42) (p.Gln95(25_42)) NT expansion Pathogenic,risk factor rs193922935 GRCh38 Chromosome 6, 170561908: 170561910
3 TBP NM_003194.4(TBP): c.216_218delACA (p.Gln95del) deletion Benign GRCh37 Chromosome 6, 170871040: 170871042
4 TBP NM_003194.4(TBP): c.216_218delACA (p.Gln95del) deletion Benign GRCh38 Chromosome 6, 170561952: 170561954

Expression for Spinocerebellar Ataxia 17

Search GEO for disease gene expression data for Spinocerebellar Ataxia 17.

Pathways for Spinocerebellar Ataxia 17

GO Terms for Spinocerebellar Ataxia 17

Cellular components related to Spinocerebellar Ataxia 17 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear matrix GO:0016363 8.8 ATN1 ATXN3 ATXN7

Biological processes related to Spinocerebellar Ataxia 17 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 microtubule cytoskeleton organization GO:0000226 9.16 ATXN3 ATXN7
2 neuromuscular process controlling balance GO:0050885 8.96 CACNA1A JPH3
3 chemical synaptic transmission GO:0007268 8.8 ATXN3 CACNA1A HAP1

Molecular functions related to Spinocerebellar Ataxia 17 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 thiol-dependent ubiquitinyl hydrolase activity GO:0036459 8.62 ATXN3 ATXN7

Sources for Spinocerebellar Ataxia 17

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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