MCID: SPN305
MIFTS: 43

Spinocerebellar Ataxia 11

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 11

MalaCards integrated aliases for Spinocerebellar Ataxia 11:

Name: Spinocerebellar Ataxia 11 53 49 71 28 13 69
Spinocerebellar Ataxia Type 11 12 23 49 55 14
Sca11 53 23 49 55 71

Characteristics:

Orphanet epidemiological data:

55
spinocerebellar ataxia type 11
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood,Elderly; Age of death: elderly;

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
onset in third or fourth decades


HPO:

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


GeneReviews:

23
Penetrance The ttbk2 pathogenic variants in the four families described to date appear to be fully penetrant, although a number of at-risk relatives are younger than the typical age of onset...

Classifications:

Orphanet: 55  
Rare neurological diseases


External Ids:

OMIM 53 604432
Disease Ontology 12 DOID:0050961
Orphanet 55 ORPHA98767
UMLS via Orphanet 70 C1858351
ICD10 via Orphanet 33 G11.8
MedGen 39 C1858351
MeSH 41 D020754
UMLS 69 C1858351

Summaries for Spinocerebellar Ataxia 11

NIH Rare Diseases : 49 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. In them, age of onset ranged from the early teens to the second decade of life and life span was normal. Diagnosis is based on signs and symptoms and with a genetic exam showing an alteration (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. Last updated: 8/11/2015

MalaCards based summary : Spinocerebellar Ataxia 11, also known as spinocerebellar ataxia type 11, is related to autosomal dominant cerebellar ataxia and spinocerebellar ataxia, autosomal recessive 11, and has symptoms including dystonia, abnormal pyramidal signs and dysarthria. An important gene associated with Spinocerebellar Ataxia 11 is TTBK2 (Tau Tubulin Kinase 2), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Alzheimers Disease Pathway. Affiliated tissues include eye, spinal cord and cerebellum, and related phenotypes are behavior/neurological and nervous system

UniProtKB/Swiss-Prot : 71 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.

Description from OMIM: 604432
GeneReviews: NBK1757

Related Diseases for Spinocerebellar Ataxia 11

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

(show all 16)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant cerebellar ataxia 29.7 PRKCG SPTBN2 TTBK2
2 spinocerebellar ataxia, autosomal recessive 11 11.1
3 spinocerebellar ataxia 1 10.9
4 townes-brocks syndrome 10.3 CCP110 CEP97
5 spinocerebellar ataxia 28 10.2 PRKCG TTBK2
6 ataxia and polyneuropathy, adult-onset 9.9
7 semantic dementia 9.8 MAPT TARDBP
8 joubert syndrome 1 9.8 CCP110 CEP164 SHH
9 postencephalitic parkinson disease 9.8 MAPT TARDBP
10 agraphia 9.7 MAPT TARDBP
11 ideomotor apraxia 9.7 MAPT TARDBP
12 nominal aphasia 9.7 MAPT TARDBP
13 cerebellar disease 9.7 PRKCG SPTBN2
14 corticobasal degeneration 9.6 MAPT TARDBP
15 basal ganglia disease 9.6 MAPT TARDBP
16 motor neuron disease 9.4 MAPT RAB5A TARDBP

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



Diseases related to Spinocerebellar Ataxia 11

Symptoms & Phenotypes for Spinocerebellar Ataxia 11

Symptoms via clinical synopsis from OMIM:

53
HeadAndNeckEyes:
nystagmus

NeurologicCentralNervousSystem:
dysarthria
hyperreflexia
cerebellar atrophy
progressive cerebellar ataxia


Clinical features from OMIM:

604432

Human phenotypes related to Spinocerebellar Ataxia 11:

55 31 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dystonia 55 31 very rare (1%) Very rare (<4-1%) HP:0001332
2 abnormal pyramidal signs 55 31 very rare (1%) Very rare (<4-1%) HP:0007256
3 dysarthria 55 31 hallmark (90%) Very frequent (99-80%) HP:0001260
4 dysphagia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002015
5 peripheral neuropathy 55 31 very rare (1%) Very rare (<4-1%) HP:0009830
6 gait imbalance 55 31 hallmark (90%) Very frequent (99-80%) HP:0002141
7 difficulty walking 55 31 hallmark (90%) Very frequent (99-80%) HP:0002355
8 progressive cerebellar ataxia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002073
9 horizontal nystagmus 55 31 hallmark (90%) Very frequent (99-80%) HP:0000666
10 jerky ocular pursuit movements 55 31 hallmark (90%) Very frequent (99-80%) HP:0008003
11 vertical nystagmus 55 31 hallmark (90%) Very frequent (99-80%) HP:0010544
12 nystagmus 31 HP:0000639
13 hyperreflexia 31 HP:0001347
14 cerebellar atrophy 31 HP:0001272

MGI Mouse Phenotypes related to Spinocerebellar Ataxia 11:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.76 GRIK2 MAPT PRKCG RAB5A SHH SLC6A12
2 nervous system MP:0003631 9.56 CCP110 GRIK2 MAPT PRKCG SHH SPTBN2
3 taste/olfaction MP:0005394 8.8 MAPT PRKCG SHH

Drugs & Therapeutics for Spinocerebellar Ataxia 11

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 11

Genetic Tests for Spinocerebellar Ataxia 11

Genetic tests related to Spinocerebellar Ataxia 11:

# Genetic test Affiliating Genes
1 Spinocerebellar Ataxia 11 28 TTBK2

Anatomical Context for Spinocerebellar Ataxia 11

MalaCards organs/tissues related to Spinocerebellar Ataxia 11:

38
Eye, Spinal Cord, Cerebellum

Publications for Spinocerebellar Ataxia 11

Articles related to Spinocerebellar Ataxia 11:

# Title Authors Year
1
Spinocerebellar ataxia type 11. ( 21827911 )
2012
2
Spinocerebellar ataxia type 11 (SCA11) is an uncommon cause of dominant ataxia among French and German kindreds. ( 20667868 )
2010
3
Spinocerebellar ataxia type 11 in the Chinese Han population. ( 19768375 )
2010
4
Clinical and genetic analysis of spinocerebellar ataxia type 11. ( 18418680 )
2008
5
Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11. ( 18037885 )
2007
6
Spinocerebellar Ataxia Type 11 ( 20301723 )
1993

Variations for Spinocerebellar Ataxia 11

ClinVar genetic disease variations for Spinocerebellar Ataxia 11:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TTBK2 NM_173500.3(TTBK2): c.1306_1307delGA (p.Asp436Tyrfs) deletion Pathogenic rs318240735 GRCh37 Chromosome 15, 43069331: 43069332
2 TTBK2 NM_173500.3(TTBK2): c.1329dupA (p.Arg444Thrfs) duplication Pathogenic rs80356538 GRCh37 Chromosome 15, 43069309: 43069309
3 TTBK2 NM_173500.3(TTBK2): c.1284_1285delAG (p.Glu429Aspfs) deletion Pathogenic rs80356539 GRCh37 Chromosome 15, 43069353: 43069354

Expression for Spinocerebellar Ataxia 11

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

Pathways for Spinocerebellar Ataxia 11

Pathways related to Spinocerebellar Ataxia 11 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.65 CCP110 CEP164 CEP97 TTBK2
2 10.61 MAPT PRKCG

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 cell projection GO:0042995 9.77 CCP110 MAPT PRKCG RAB5A TTBK2
2 dendrite GO:0030425 9.56 GRIK2 MAPT PRKCG RAB5A
3 centriole GO:0005814 9.5 CCP110 CEP164 TTBK2
4 neuronal cell body GO:0043025 9.46 GRIK2 MAPT RAB5A SPTBN2
5 cytoskeleton GO:0005856 9.1 CCP110 CEP164 CEP97 MAPT SPTBN2 TTBK2
6 somatodendritic compartment GO:0036477 8.96 MAPT RAB5A
7 cytosol GO:0005829 10.06 CCP110 CEP164 CEP97 MAPT PRKCG RAB5A

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

# Name GO ID Score Top Affiliating Genes
1 negative regulation of gene expression GO:0010629 9.5 MAPT SHH TARDBP
2 negative regulation of protein catabolic process GO:0042177 9.26 PRKCG SHH
3 cell projection organization GO:0030030 9.26 CCP110 CEP164 CEP97 TTBK2
4 negative regulation of cilium assembly GO:1902018 9.16 CCP110 CEP97
5 ciliary basal body-plasma membrane docking GO:0097711 8.92 CCP110 CEP164 CEP97 TTBK2

Sources for Spinocerebellar Ataxia 11

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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