MCID: SPN296
MIFTS: 46

Spinocerebellar Ataxia 17

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

Aliases & Classifications for Spinocerebellar Ataxia 17

MalaCards integrated aliases for Spinocerebellar Ataxia 17:

Name: Spinocerebellar Ataxia 17 53 49 71 28 13 69
Spinocerebellar Ataxia Type 17 12 23 49 55 14
Sca17 53 23 55 71 51
Huntington Disease-Like 4 53 23 55 71
Hdl4 53 23 55 71
Huntington Disease-Like 4; Hdl4 53
Sca 17 49

Characteristics:

Orphanet epidemiological data:

55
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:

53
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:

31
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: 55  
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 autosomal dominant cerebellar ataxia and huntington disease, and has symptoms including ataxia, torticollis and dystonia. 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 behavior/neurological and growth/size/body region

NIH Rare Diseases : 49 This condition doesn't have a summary yet. Please see our page(s) on Spinocerebellar ataxia.

OMIM : 53 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 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 Type 16 Spinocerebellar Ataxia Type 19/22
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 28.7 ATN1 ATXN3 ATXN7 CACNA1A TBP
2 huntington disease 28.1 ATN1 ATXN3 HAP1 JPH3 TBP
3 huntington disease-like syndrome 11.4
4 spinocerebellar ataxia, autosomal recessive 17 11.1
5 ataxia and polyneuropathy, adult-onset 10.5
6 choreatic disease 10.1 JPH3 TBP
7 focal dystonia 9.9
8 dystonia 9.9
9 neuronitis 9.9
10 friedreich ataxia 1 9.6 ATXN3 CACNA1A
11 spinal and bulbar muscular atrophy, x-linked 1 9.6 ATXN3 ATXN7
12 restless legs syndrome 9.5 ATXN3 CACNA1A
13 nervous system disease 9.4 ATXN3 CACNA1A
14 spinocerebellar ataxia 18 9.3 ATXN3 ATXN7 CACNA1A
15 spinocerebellar ataxia 6 9.3 ATXN3 ATXN7 CACNA1A
16 spinocerebellar ataxia 2 9.3 ATXN3 ATXN7 CACNA1A
17 spinocerebellar ataxia 31 9.3 ATXN3 ATXN7 CACNA1A
18 cerebellar disease 9.2 ATXN3 ATXN7 CACNA1A
19 aceruloplasminemia 9.0 ATXN3 ATXN7 CACNA1A TBP
20 spinocerebellar ataxia 1 9.0 ATN1 ATXN3 ATXN7 CACNA1A
21 machado-joseph disease 8.9 ATN1 ATXN3 ATXN7 CACNA1A
22 hereditary ataxia 8.7 ATN1 ATXN3 ATXN7 CACNA1A TBP
23 spinocerebellar ataxia 12 8.7 ATN1 ATXN3 ATXN7 CACNA1A TBP
24 dentatorubral-pallidoluysian atrophy 8.4 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:

53
Neurologic Central Nervous System:
seizures
myoclonus
dystonia
bradykinesia
gait ataxia
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
paranoia
mutism
frontal lobe dementia
more
Genitourinary Bladder:
incontinence (in late stages)


Clinical features from OMIM:

607136

Human phenotypes related to Spinocerebellar Ataxia 17:

55 31 (show all 45)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001251
2 torticollis 55 31 frequent (33%) Frequent (79-30%) HP:0000473
3 dystonia 55 31 Frequent (79-30%) HP:0001332
4 abnormal pyramidal signs 55 31 frequent (33%) Frequent (79-30%) HP:0007256
5 spasticity 55 31 frequent (33%) Frequent (79-30%) HP:0001257
6 gait disturbance 55 31 hallmark (90%) Very frequent (99-80%) HP:0001288
7 chorea 55 31 frequent (33%) Frequent (79-30%) HP:0002072
8 behavioral abnormality 55 31 frequent (33%) Frequent (79-30%) HP:0000708
9 rigidity 55 31 frequent (33%) Frequent (79-30%) HP:0002063
10 mental deterioration 55 31 frequent (33%) Frequent (79-30%) HP:0001268
11 blepharospasm 55 31 frequent (33%) Frequent (79-30%) HP:0000643
12 cerebellar atrophy 55 31 Frequent (79-30%) HP:0001272
13 parkinsonism 55 31 frequent (33%) Frequent (79-30%) HP:0001300
14 neuronal loss in central nervous system 55 31 frequent (33%) Frequent (79-30%) HP:0002529
15 generalized cerebral atrophy/hypoplasia 55 31 frequent (33%) Frequent (79-30%) HP:0007058
16 atrophy/degeneration affecting the brainstem 55 31 frequent (33%) Frequent (79-30%) HP:0007366
17 writer's cramp 55 31 frequent (33%) Frequent (79-30%) HP:0002356
18 cerebellar purkinje layer atrophy 55 31 frequent (33%) Frequent (79-30%) HP:0012082
19 seizures 31 HP:0001250
20 myoclonus 31 HP:0001336
21 bradykinesia 31 HP:0002067
22 involuntary movements 55 Frequent (79-30%)
23 gait ataxia 31 HP:0002066
24 dysarthria 31 HP:0001260
25 dysphagia 31 HP:0002015
26 hallucinations 31 HP:0000738
27 limb ataxia 31 HP:0002070
28 dysmetria 31 HP:0001310
29 intention tremor 31 HP:0002080
30 paranoia 31 HP:0011999
31 apraxia 31 HP:0002186
32 aggressive behavior 31 HP:0000718
33 confusion 31 HP:0001289
34 gliosis 31 HP:0002171
35 urinary incontinence 31 HP:0000020
36 mutism 31 HP:0002300
37 frontal lobe dementia 31 HP:0000727
38 broad-based gait 31 HP:0002136
39 lack of insight 31 HP:0000757
40 diffuse cerebral atrophy 31 HP:0002506
41 positive romberg sign 31 HP:0002403
42 gaze-evoked nystagmus 31 HP:0000640
43 frontal release signs 31 HP:0000743
44 impaired pursuit initiation and maintenance 31 HP:0007668
45 depressivity 31 HP:0000716

UMLS symptoms related to Spinocerebellar Ataxia 17:


gait ataxia, action tremor, bradykinesia, seizures, myoclonus

MGI Mouse Phenotypes related to Spinocerebellar Ataxia 17:

43
# 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 ATXN7 CACNA1A HAP1 JPH3 TBP ATN1
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 28 TBP

Anatomical Context for Spinocerebellar Ataxia 17

MalaCards organs/tissues related to Spinocerebellar Ataxia 17:

38
Eye, Spinal Cord, Cerebellum, Brain

Publications for Spinocerebellar Ataxia 17

Articles related to Spinocerebellar Ataxia 17:

(show all 15)
# 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
Morphological basis for the spectrum of clinical deficits in spinocerebellar ataxia 17 (SCA17). ( 16760196 )
2006
12
Electrophysiologic characterization in spinocerebellar ataxia 17. ( 16567717 )
2006
13
Characterization of nigrostriatal dysfunction in spinocerebellar ataxia 17. ( 16532453 )
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
# 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:

# 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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