SCA11
MCID: SPN305
MIFTS: 43

Spinocerebellar Ataxia 11 (SCA11)

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 11

MalaCards integrated aliases for Spinocerebellar Ataxia 11:

Name: Spinocerebellar Ataxia 11 56 52 73 29 13 6 71
Spinocerebellar Ataxia Type 11 12 24 52 58 15
Sca11 56 24 52 58 73
Ataxia, Spinocerebellar, Type 11 39

Characteristics:

Orphanet epidemiological data:

58
spinocerebellar ataxia type 11
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood,Elderly; Age of death: elderly;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
onset in third or fourth decades


HPO:

31
spinocerebellar ataxia 11:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset


GeneReviews:

24
Penetrance The ttbk2 pathogenic variants in the six families described to date appear to be fully penetrant, although a number of at-risk relatives are younger than the typical age of onset. to date, no non-penetrant pathogenic variants have been identified in older individuals.

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0050961
OMIM 56 604432
OMIM Phenotypic Series 56 PS164400
MeSH 43 D020754
ICD10 via Orphanet 33 G11.8
UMLS via Orphanet 72 C1858351
Orphanet 58 ORPHA98767
MedGen 41 C1858351
UMLS 71 C1858351

Summaries for Spinocerebellar Ataxia 11

NIH Rare Diseases : 52 Spinocerebellar ataxia type 11 (SCA11) is characterized by progressive cerebellar ataxia (difficulty walking and balance) and abnormal eye signs (jerky pursuit, horizontal and vertical movements (nystagmus ), pyramidal features (increased muscular tonus, increased reflexes and an abnormal reflex known as Babinski sign and inability to make to perform fine movements), peripheral neuropathy with numbness, weakness or pain in the feet or hands or other places of the body and dystonia . It is a very rare disease and very few patients have been reported to date. Age of onset ranges from the early teens to the mid 20s and life span is normal. Diagnosis is based on signs and symptoms and is confirmed by genetic testing finding a change (mutation ) in the TTBK2 gene . It is inherited in an autosomal dominant manner. Treatment may include speech and language therapy for talking and swallowing problems, occupational therapy, including home adaptations, physiotherapy and use of assistive walking devices and ankle-foot orthotics (AFOs) for those with neuropathy.

MalaCards based summary : Spinocerebellar Ataxia 11, also known as spinocerebellar ataxia type 11, is related to spinocerebellar ataxia, autosomal recessive 11 and spinocerebellar ataxia 1. An important gene associated with Spinocerebellar Ataxia 11 is TTBK2 (Tau Tubulin Kinase 2), and among its related pathways/superpathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. Affiliated tissues include eye, cerebellum and spinal cord, and related phenotypes are dysarthria and dysphagia

Disease Ontology : 12 An autosomal dominant cerebellar ataxia that is characterized by ataxia, nystagmus, pyramidal abonormalities and peripheral neuropathy, has material basis in mutation in the TTBK2 gene.

UniProtKB/Swiss-Prot : 73 Spinocerebellar ataxia 11: 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. SCA11 is an autosomal dominant cerebellar ataxia (ADCA). It is a relatively benign, late- onset, slowly progressive neurologic disorder.

More information from OMIM: 604432 PS164400
GeneReviews: NBK1757

Related Diseases for Spinocerebellar Ataxia 11

Diseases in the Spinocerebellar Ataxia 6 family:

Spinocerebellar Ataxia 31 Spinocerebellar Ataxia 29
Spinocerebellar Ataxia 34 Spinocerebellar Ataxia 1
Spinocerebellar Ataxia 7 Spinocerebellar Ataxia 2
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 Type 19/22 Grid2-Related Spinocerebellar Ataxia
Spinocerebellar Ataxia Autosomal Recessive 5

Diseases related to Spinocerebellar Ataxia 11 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 33)
# Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia, autosomal recessive 11 11.4
2 spinocerebellar ataxia 1 11.2
3 spinocerebellar ataxia 26 11.2
4 ataxia and polyneuropathy, adult-onset 10.4
5 aceruloplasminemia 10.2
6 autosomal dominant cerebellar ataxia 10.2
7 nephronophthisis 16 10.2 CEP83 CEP164
8 dentatorubral-pallidoluysian atrophy 10.1
9 spinocerebellar ataxia 14 10.1
10 dystonia 10.1
11 peripheral nervous system disease 10.1
12 neuropathy 10.1
13 pathologic nystagmus 10.1
14 cerebellar degeneration 10.1
15 dysphagia 10.1
16 spinocerebellar degeneration 10.1
17 orofaciodigital syndrome iv 10.0 OFD1 C2CD3
18 nephronophthisis 18 9.9 SCLT1 CEP83 CEP164
19 orofaciodigital syndrome v 9.9 OFD1 C2CD3
20 joubert syndrome 2 9.9 OFD1 C2CD3
21 primary autosomal recessive microcephaly 9.8 TTBK1 CEP164 CCP110
22 spinocerebellar ataxia 15 9.7 TTBK2 ATXN10
23 orofaciodigital syndrome vi 9.7 OFD1 C2CD3
24 nephronophthisis 15 9.7 SCLT1 CEP83 CEP164 C2CD3
25 short-rib thoracic dysplasia 6 with or without polydactyly 9.6 OFD1 C2CD3
26 bardet-biedl syndrome 9.5 OFD1 CEP97 CEP164 CCP110
27 senior-loken syndrome 1 9.3 OFD1 CEP97 CEP83 CEP164 CCP110
28 orofaciodigital syndrome 8.9 SCLT1 OFD1 CEP89 CEP83 CEP164 C2CD3
29 orofaciodigital syndrome i 8.7 SCLT1 OFD1 CEP97 CEP89 CEP83 CEP164
30 primary ciliary dyskinesia 8.6 SCLT1 OFD1 CEP89 CEP83 CEP164 CCP110
31 nephronophthisis 7.8 SCLT1 OFD1 CEP97 CEP89 CEP83 CEP164
32 meckel syndrome, type 1 7.8 SCLT1 OFD1 CEP97 CEP89 CEP83 CEP164
33 joubert syndrome 1 7.6 TTBK2 SCLT1 OFD1 CEP97 CEP89 CEP83

Graphical network of the top 20 diseases related to Spinocerebellar Ataxia 11:



Diseases related to Spinocerebellar Ataxia 11

Symptoms & Phenotypes for Spinocerebellar Ataxia 11

Human phenotypes related to Spinocerebellar Ataxia 11:

58 31 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysarthria 58 31 hallmark (90%) Very frequent (99-80%) HP:0001260
2 dysphagia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002015
3 gait imbalance 58 31 hallmark (90%) Very frequent (99-80%) HP:0002141
4 difficulty walking 58 31 hallmark (90%) Very frequent (99-80%) HP:0002355
5 progressive cerebellar ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002073
6 horizontal nystagmus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000666
7 jerky ocular pursuit movements 58 31 hallmark (90%) Very frequent (99-80%) HP:0008003
8 vertical nystagmus 58 31 hallmark (90%) Very frequent (99-80%) HP:0010544
9 abnormal pyramidal sign 58 31 very rare (1%) Very rare (<4-1%) HP:0007256
10 peripheral neuropathy 58 31 very rare (1%) Very rare (<4-1%) HP:0009830
11 dystonia 58 31 very rare (1%) Very rare (<4-1%) HP:0001332
12 hyperreflexia 31 HP:0001347
13 nystagmus 31 HP:0000639
14 cerebellar atrophy 31 HP:0001272

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
hyperreflexia
dysarthria
progressive cerebellar ataxia
cerebellar atrophy

Head And Neck Eyes:
nystagmus

Clinical features from OMIM:

604432

MGI Mouse Phenotypes related to Spinocerebellar Ataxia 11:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.02 C2CD3 CCP110 OFD1 SCLT1 TTBK2

Drugs & Therapeutics for Spinocerebellar Ataxia 11

Search Clinical Trials , NIH Clinical Center for Spinocerebellar Ataxia 11

Genetic Tests for Spinocerebellar Ataxia 11

Genetic tests related to Spinocerebellar Ataxia 11:

# Genetic test Affiliating Genes
1 Spinocerebellar Ataxia 11 29 TTBK2

Anatomical Context for Spinocerebellar Ataxia 11

MalaCards organs/tissues related to Spinocerebellar Ataxia 11:

40
Eye, Cerebellum, Spinal Cord, Testes, Brain, Liver, Skin

Publications for Spinocerebellar Ataxia 11

Articles related to Spinocerebellar Ataxia 11:

(show all 31)
# Title Authors PMID Year
1
Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11. 24 56 6
18037885 2007
2
Autosomal dominant cerebellar ataxia type III: linkage in a large British family to a 7.6-cM region on chromosome 15q14-21.3. 24 56
10417284 1999
3
Spinocerebellar Ataxia Type 11 61 6
20301723 2008
4
First finding of familial spinal cerebellar Ataxia11 in China: clinical, imaging and genetic features. 61 24
31485862 2020
5
Spinocerebellar ataxia type 11-associated alleles of Ttbk2 dominantly interfere with ciliogenesis and cilium stability. 61 24
30532139 2018
6
A Novel TTBK2 De Novo Mutation in a Danish Family with Early-Onset Spinocerebellar Ataxia. 61 24
27165044 2017
7
The spinocerebellar ataxia-associated gene Tau tubulin kinase 2 controls the initiation of ciliogenesis. 61 24
23141541 2012
8
Spinocerebellar ataxia type 11 (SCA11) is an uncommon cause of dominant ataxia among French and German kindreds. 61 24
20667868 2010
9
Spinocerebellar ataxia type 11 in the Chinese Han population. 61 24
19768375 2010
10
EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. 6
20050888 2010
11
Missense exchanges in the TTBK2 gene mutated in SCA11. 61 24
19533200 2009
12
Hereditary Ataxia Overview 6
20301317 1998
13
Pathological phosphorylation of tau and TDP-43 by TTBK1 and TTBK2 drives neurodegeneration. 24
29409526 2018
14
Timing, rates and spectra of human germline mutation. 24
26656846 2016
15
Phosphorylation of synaptic vesicle protein 2A at Thr84 by casein kinase 1 family kinases controls the specific retrieval of synaptotagmin-1. 24
25673844 2015
16
Upregulation of Na-coupled glucose transporter SGLT1 by Tau tubulin kinase 2. 24
22814243 2012
17
TTBK2 and primary cilia are essential for the connectivity and survival of cerebellar Purkinje neurons. 61
31934864 2020
18
Tau Tubulin Kinase TTBK2 Sensitivity of Glutamate Receptor GluK2. 61
27607061 2016
19
Spinocerebellar ataxia 28: a novel AFG3L2 mutation in a German family with young onset, slow progression and saccadic slowing. 61
26677414 2015
20
Upregulation of Na+,Cl(-)-coupled betaine/γ-amino-butyric acid transporter BGT1 by Tau tubulin kinase 2. 61
23942339 2013
21
Autosomal dominant cerebellar ataxia type III: a review of the phenotypic and genotypic characteristics. 61
23331413 2013
22
Brain pathology of spinocerebellar ataxias. 61
22684686 2012
23
TTBK2 kinase substrate specificity and the impact of spinocerebellar-ataxia-causing mutations on expression, activity, localization and development. 61
21548880 2011
24
Spinocerebellar ataxias in mainland China: an updated genetic analysis among a large cohort of familial and sporadic cases. 61
21743138 2011
25
Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond. 61
20723845 2010
26
Possible genetic heterogeneity of spinocerebellar ataxia linked to chromosome 15. 61
20589871 2010
27
[Molecular genetic approach to spinocerebellar ataxias]. 61
20030245 2009
28
Clinical and genetic analysis of spinocerebellar ataxia type 11. 61
18418680 2008
29
Spinocerebellar Ataxia Type 15 61
20301536 2006
30
A novel autosomal dominant spinocerebellar ataxia (SCA22) linked to chromosome 1p21-q23. 61
12764052 2003
31
Early onset autosomal dominant dementia with ataxia, extrapyramidal features, and epilepsy. 61
11914409 2002

Variations for Spinocerebellar Ataxia 11

ClinVar genetic disease variations for Spinocerebellar Ataxia 11:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TTBK2 NM_173500.4(TTBK2):c.1285_1286GA[1] (p.Glu429fs)short repeat Pathogenic 848 rs80356539 15:43069350-43069351 15:42777152-42777153
2 TTBK2 NM_173500.4(TTBK2):c.1329dup (p.Arg444fs)duplication Pathogenic 847 rs80356538 15:43069308-43069309 15:42777110-42777111
3 TTBK2 NM_173500.4(TTBK2):c.1304_1305GA[1] (p.Asp436fs)short repeat Pathogenic 41375 rs318240735 15:43069331-43069332 15:42777133-42777134
4 TTBK2 NM_173500.4(TTBK2):c.3722A>C (p.Lys1241Thr)SNV Uncertain significance 425066 rs36104367 15:43038006-43038006 15:42745808-42745808
5 TTBK2 NM_173500.4(TTBK2):c.3584_3601del (p.Ser1195_Arg1201delinsTrp)deletion Uncertain significance 634639 rs1566996154 15:43038127-43038144 15:42745929-42745946
6 TTBK2 NM_173500.4(TTBK2):c.23T>C (p.Leu8Pro)SNV Benign 130646 rs6493068 15:43170793-43170793 15:42878595-42878595

Expression for Spinocerebellar Ataxia 11

Search GEO for disease gene expression data for Spinocerebellar Ataxia 11.

Pathways for Spinocerebellar Ataxia 11

GO Terms for Spinocerebellar Ataxia 11

Cellular components related to Spinocerebellar Ataxia 11 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.17 TTBK2 TTBK1 OFD1 FKBP15 CEP97 CEP89
2 cytosol GO:0005829 10.06 TTBK2 TTBK1 SCLT1 OFD1 CEP97 CEP89
3 cytoskeleton GO:0005856 9.91 TTBK2 SCLT1 OFD1 CEP97 CEP89 CEP83
4 cell projection GO:0042995 9.88 TTBK2 OFD1 FKBP15 CCP110 C2CD3
5 microtubule organizing center GO:0005815 9.76 OFD1 CEP97 CEP89 CCP110
6 centrosome GO:0005813 9.7 SCLT1 OFD1 CEP97 CEP89 CEP164 CCP110
7 ciliary basal body GO:0036064 9.58 TTBK2 OFD1 C2CD3
8 centriolar satellite GO:0034451 9.54 OFD1 CEP97 C2CD3
9 ciliary transition fiber GO:0097539 9.26 SCLT1 CEP89 CEP83 CEP164
10 centriole GO:0005814 9.23 TTBK2 SCLT1 OFD1 CEP89 CEP83 CEP164

Biological processes related to Spinocerebellar Ataxia 11 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cilium assembly GO:0060271 9.76 TTBK2 SCLT1 OFD1 CEP89 CEP83 CEP164
2 G2/M transition of mitotic cell cycle GO:0000086 9.61 OFD1 CEP164 CCP110
3 cell projection organization GO:0030030 9.56 TTBK2 OFD1 CEP97 CEP89 CEP83 CEP164
4 non-motile cilium assembly GO:1905515 9.46 CEP89 C2CD3
5 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.43 OFD1 CEP164 CCP110
6 protein localization to centrosome GO:0071539 9.4 CEP83 C2CD3
7 centriole replication GO:0007099 9.37 OFD1 CCP110
8 negative regulation of cilium assembly GO:1902018 9.32 CEP97 CCP110
9 ciliary basal body-plasma membrane docking GO:0097711 9.28 TTBK2 SCLT1 OFD1 CEP97 CEP89 CEP83

Molecular functions related to Spinocerebellar Ataxia 11 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 tau protein binding GO:0048156 8.96 TTBK2 TTBK1
2 tau-protein kinase activity GO:0050321 8.62 TTBK2 TTBK1

Sources for Spinocerebellar Ataxia 11

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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