MCID: SPN296
MIFTS: 47

Spinocerebellar Ataxia 17

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

Aliases & Classifications for Spinocerebellar Ataxia 17

MalaCards integrated aliases for Spinocerebellar Ataxia 17:

Name: Spinocerebellar Ataxia 17 54 50 71 29 13 69
Spinocerebellar Ataxia Type 17 12 23 50 56 14
Sca17 23 56 71 52
Huntington Disease-Like 4 23 56 71
Hdl4 23 56 71
Sca 17 50

Characteristics:

Orphanet epidemiological data:

56
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:

54
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:

23
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: 56  
Rare neurological diseases


Summaries for Spinocerebellar Ataxia 17

UniProtKB/Swiss-Prot : 71 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.

MalaCards based summary : Spinocerebellar Ataxia 17, also known as spinocerebellar ataxia type 17, is related to spinocerebellar ataxia, autosomal recessive 17 and huntington disease-like syndrome, and has symptoms including dysphagia, dystonia and chorea. An important gene associated with Spinocerebellar Ataxia 17 is TBP (TATA-Box Binding Protein). Affiliated tissues include spinal cord, eye and cerebellum, and related phenotypes are behavior/neurological and growth/size/body region

NIH Rare Diseases : 50 this condition doesn't have a summary yet. please see our page(s) on spinocerebellar ataxia.

OMIM : 54
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)

GeneReviews: NBK1438

Related Diseases for Spinocerebellar Ataxia 17

Diseases in the Spinocerebellar Ataxia 2 family:

Spinocerebellar Ataxia 21 Spinocerebellar Ataxia, Autosomal Recessive 4
Spinocerebellar Ataxia 37 Spinocerebellar Ataxia 19
Spinocerebellar Ataxia, Autosomal Recessive 11 Spinocerebellar Ataxia 25
Spinocerebellar Ataxia, Autosomal Recessive 22 Spinocerebellar Ataxia 15
Spinocerebellar Ataxia, Autosomal Recessive 10 Spinocerebellar Ataxia 7
Spinocerebellar Ataxia 43 Spinocerebellar Ataxia, Autosomal Recessive 24
Spinocerebellar Ataxia, Autosomal Recessive 15 Spinocerebellar Ataxia, Autosomal Recessive 18
Spinocerebellar Ataxia 41 Spinocerebellar Ataxia 30
Spinocerebellar Ataxia 12 Spinocerebellar Ataxia 1
Spinocerebellar Ataxia, Autosomal Recessive 3 Spinocerebellar Ataxia, Autosomal Recessive 23
Spinocerebellar Ataxia 38 Spinocerebellar Ataxia 34
Spinocerebellar Ataxia, Autosomal Recessive 20 Spinocerebellar Ataxia, Autosomal Recessive 25
Spinocerebellar Ataxia, Autosomal Recessive 13 Spinocerebellar Ataxia, Autosomal Recessive 8
Spinocerebellar Ataxia 17 Spinocerebellar Ataxia 18
Spinocerebellar Ataxia 32 Spinocerebellar Ataxia, Autosomal Recessive 1
Spinocerebellar Ataxia, Autosomal Recessive 2 Spinocerebellar Ataxia, Autosomal Recessive 17
Spinocerebellar Ataxia, Autosomal Recessive 7 Spinocerebellar Ataxia 20
Spinocerebellar Ataxia, Autosomal Recessive 21 Spinocerebellar Ataxia 5
Spinocerebellar Ataxia, Autosomal Recessive 14 Spinocerebellar Ataxia 8
Spinocerebellar Ataxia 27 Spinocerebellar Ataxia 40
Spinocerebellar Ataxia 11 Spinocerebellar Ataxia, Autosomal Recessive 16
Spinocerebellar Ataxia 31 Spinocerebellar Ataxia 4
Spinocerebellar Ataxia, Autosomal Recessive 12 Spinocerebellar Ataxia 42
Spinocerebellar Ataxia 28 Spinocerebellar Ataxia 26
Spinocerebellar Ataxia 6 Spinocerebellar Ataxia, Autosomal Recessive 26
Spinocerebellar Ataxia 13 Spinocerebellar Ataxia 14
Spinocerebellar Ataxia 36 Spinocerebellar Ataxia 23
Spinocerebellar Ataxia 35 Spinocerebellar Ataxia, Autosomal Recessive 6
Spinocerebellar Ataxia 10 Spinocerebellar Ataxia Type 16
Spinocerebellar Ataxia Type 19/22 Grid2-Related Spinocerebellar Ataxia
Spinocerebellar Ataxia 9 Spinocerebellar Ataxia Autosomal Recessive 5

Diseases related to Spinocerebellar Ataxia 17 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 26)
id Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia, autosomal recessive 17 11.0
2 huntington disease-like syndrome 10.9
3 spinocerebellar ataxia type17 10.8
4 ataxia 10.4
5 sjogren's syndrome 9.9 JPH3 TBP
6 huntington disease 9.8
7 focal dystonia 9.8
8 dystonia 9.8
9 neuronitis 9.8
10 prostate carcinoma in situ 9.5 ATXN3 CACNA1A
11 hypospadias 1, x-linked 9.1 ATXN3 ATXN7
12 mednik syndrome 9.1 ATXN3 ATXN7 CACNA1A
13 epileptic encephalopathy, early infantile, 42 9.1 ATXN3 ATXN7 CACNA1A
14 celiac disease 13 9.0 ATXN3 ATXN7 CACNA1A
15 hyperalphalipoproteinemia 9.0 ATXN3 ATXN7 CACNA1A
16 idiopathic interstitial pneumonia 8.9 ATXN3 ATXN7 CACNA1A
17 tremor, hereditary essential, 3 8.6 ATN1 ATXN3 ATXN7 CACNA1A
18 proteus syndrome, somatic 8.6 ATN1 ATXN3 ATXN7 CACNA1A
19 benign focal amyotrophy 8.5 ATXN3 ATXN7 CACNA1A TBP
20 lopes-maciel-rodan syndrome 8.5 ATN1 ATXN3 HAP1 JPH3 TBP
21 hereditary spastic paraplegia 8.3 ATN1 ATXN3 ATXN7 CACNA1A TBP
22 schistosoma mansoni infection, susceptibility/ 8.3 ATN1 ATXN3 ATXN7 CACNA1A TBP
23 dipetalonemiasis 8.3 ATN1 ATXN3 ATXN7 CACNA1A TBP
24 bruck syndrome 2 8.2 ATN1 ATXN3 ATXN7 CACNA1A TBP
25 okt4 epitope deficiency 7.8 ATN1 ATXN3 ATXN7 CACNA1A JPH3 TBP
26 rigidity and multifocal seizure syndrome, lethal neonatal 7.4 ATN1 ATXN3 ATXN7 CACNA1A HAP1 JPH3

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:

54

Neurologic- Central Nervous System:
dysphagia
dystonia
chorea
myoclonus
dysarthria
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:
depression
hallucinations
aggression
paranoia
frontal release signs
more
Genitourinary- Bladder:
incontinence (in late stages)


Clinical features from OMIM:

607136

Human phenotypes related to Spinocerebellar Ataxia 17:

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

UMLS symptoms related to Spinocerebellar Ataxia 17:


myoclonus, seizures, bradykinesia, action tremor, gait ataxia

MGI Mouse Phenotypes related to Spinocerebellar Ataxia 17:

44
id 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 TBP ATN1 ATXN3 ATXN7 CACNA1A HAP1

Drugs & Therapeutics for Spinocerebellar Ataxia 17

Interventional clinical trials:


id 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:

id Genetic test Affiliating Genes
1 Spinocerebellar Ataxia 17 29

Anatomical Context for Spinocerebellar Ataxia 17

MalaCards organs/tissues related to Spinocerebellar Ataxia 17:

39
Spinal Cord, Eye, Cerebellum, Brain

Publications for Spinocerebellar Ataxia 17

Articles related to Spinocerebellar Ataxia 17:

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

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:

id 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:

id 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:

id 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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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