MCID: HRD026
MIFTS: 47

Hereditary Ataxia

Categories: Rare diseases, Neuronal diseases

Aliases & Classifications for Hereditary Ataxia

MalaCards integrated aliases for Hereditary Ataxia:

Name: Hereditary Ataxia 38 12 76 24 53 29 15
Ataxias, Hereditary 73
Ataxias Hereditary 55

Classifications:



External Ids:

Disease Ontology 12 DOID:0050951
ICD10 33 G11
UMLS 73 C0004138

Summaries for Hereditary Ataxia

Disease Ontology : 12 A neurodegenerative disease that is characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements.

MalaCards based summary : Hereditary Ataxia, also known as ataxias, hereditary, is related to machado-joseph disease and spinocerebellar ataxia 31. An important gene associated with Hereditary Ataxia is ATXN1 (Ataxin 1), and among its related pathways/superpathways are DNA Damage and Chks in Checkpoint Regulation. The drugs Riluzole and Anticonvulsants have been mentioned in the context of this disorder. Affiliated tissues include Umbilical Cord, eye and cerebellum, and related phenotypes are Decreased viability after ionizing radiation and behavior/neurological

Wikipedia : 76 Ataxia is a neurological sign consisting of lack of voluntary coordination of muscle movements that... more...

GeneReviews: NBK1138

Related Diseases for Hereditary Ataxia

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

(show top 50) (show all 231)
# Related Disease Score Top Affiliating Genes
1 machado-joseph disease 31.8 ATN1 ATXN1 ATXN2 ATXN3 ATXN7 CACNA1A
2 spinocerebellar ataxia 31 30.8 ATXN3 ATXN7 CACNA1A
3 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 30.8 TDP1 TOP1
4 episodic ataxia, type 7 30.7 CACNA1A KCNA1
5 spinocerebellar ataxia 27 30.5 CACNA1A KCNA1
6 spinocerebellar ataxia 36 30.4 ATXN10 ATXN2 PPP2R2B
7 autosomal recessive cerebellar ataxia 30.4 ATM FXN SPG7 SPTBN2 TDP1 TWNK
8 spinocerebellar ataxia 8 30.3 ATXN10 PPP2R2B TWNK
9 episodic ataxia, type 2 30.3 CACNA1A KCNA1
10 spinocerebellar ataxia 2 30.3 ATXN2 ATXN3 ATXN7 CACNA1A
11 spinocerebellar ataxia 1 30.2 ATN1 ATXN1 ATXN3 ATXN7 CACNA1A
12 spinocerebellar ataxia 18 30.1 ATXN3 ATXN7 CACNA1A SPTBN2
13 spinocerebellar degeneration 30.1 ATXN1 ATXN2 ATXN3 TDP1
14 spinocerebellar ataxia 6 30.1 ATXN3 ATXN7 CACNA1A KCNA1
15 spinocerebellar ataxia 17 30.0 ATN1 ATXN3 ATXN7 CACNA1A TBP
16 spastic ataxia, charlevoix-saguenay type 29.8 APTX FXN
17 friedreich ataxia 1 29.4 APTX ATXN1 ATXN2 ATXN3 CACNA1A FMR1
18 dentatorubral-pallidoluysian atrophy 29.2 ATN1 ATXN2 ATXN3 ATXN7 CACNA1A PPP2R2B
19 spinocerebellar ataxia 12 28.7 ATN1 ATXN1 ATXN2 ATXN3 ATXN7 CACNA1A
20 autosomal dominant cerebellar ataxia 27.0 AFG3L2 ATN1 ATXN1 ATXN10 ATXN2 ATXN3
21 x-linked hereditary ataxia 11.9
22 ataxia, sensory, 1, autosomal dominant 10.7
23 fragile x-associated tremor/ataxia syndrome 10.7
24 episodic ataxia 10.7
25 kearns-sayre syndrome 10.5 AFG3L2 ATXN7 TWNK
26 hereditary spastic paraplegia 10.5
27 cerebellar degeneration 10.4 ATM ATXN2 CACNA1A
28 ataxia-telangiectasia 10.3
29 mitochondrial dna depletion syndrome 7 10.3
30 spinal and bulbar muscular atrophy, x-linked 1 10.3 ATXN1 ATXN3 ATXN7 FMR1
31 mitochondrial disorders 10.3 FXN SPG7 TWNK
32 spinocerebellar ataxia, autosomal recessive 1 10.3 APTX ATXN1 FXN
33 central nervous system disease 10.2 ATM ATXN3 CACNA1A FXN
34 neuronal intranuclear inclusion disease 10.2 ATXN1 ATXN3
35 nervous system disease 10.2 ATM ATXN3 CACNA1A FXN
36 spasticity 10.1
37 paraplegia 10.1
38 huntington disease 10.1 ATN1 ATXN1 ATXN3 TBP
39 episodic ataxia, type 1 10.0
40 spinocerebellar ataxia 7 10.0
41 spastic paraplegia 3, autosomal dominant 10.0
42 spastic paraplegia 4, autosomal dominant 10.0
43 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 10.0
44 gordon holmes syndrome 10.0
45 boucher-neuhauser syndrome 10.0
46 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 10.0
47 mast syndrome 10.0
48 galloway-mowat syndrome 1 10.0
49 spastic paraplegia 17, autosomal dominant 10.0
50 spastic paraplegia 15, autosomal recessive 10.0

Graphical network of the top 20 diseases related to Hereditary Ataxia:



Diseases related to Hereditary Ataxia

Symptoms & Phenotypes for Hereditary Ataxia

GenomeRNAi Phenotypes related to Hereditary Ataxia according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability after ionizing radiation GR00232-A-2 8.8 ATM ATXN3 TOP1

MGI Mouse Phenotypes related to Hereditary Ataxia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.2 TBP TDP1 AFG3L2 ATM ATN1 ATXN1
2 growth/size/body region MP:0005378 10.07 TBP AFG3L2 ATM ATN1 ATXN1 ATXN2
3 homeostasis/metabolism MP:0005376 9.97 APTX ATM ATN1 ATXN1 ATXN2 ATXN3
4 mortality/aging MP:0010768 9.77 ATXN10 ATXN2 ATXN7 CACNA1A FXN KCNA1
5 nervous system MP:0003631 9.5 AFG3L2 ATM ATN1 ATXN1 ATXN2 ATXN3

Drugs & Therapeutics for Hereditary Ataxia

Drugs for Hereditary Ataxia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Riluzole Approved, Investigational Phase 2, Phase 3 1744-22-5 5070
2 Anticonvulsants Phase 2, Phase 3
3 Excitatory Amino Acid Antagonists Phase 2, Phase 3
4 Excitatory Amino Acids Phase 2, Phase 3
5 Neuroprotective Agents Phase 2, Phase 3
6 Neurotransmitter Agents Phase 2, Phase 3
7 Protective Agents Phase 2, Phase 3
8 Calcium, Dietary Phase 2
9
Calcium Carbonate Approved, Investigational Not Applicable 471-34-1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Efficacy of Riluzole in Hereditary Cerebellar Ataxia Completed NCT01104649 Phase 2, Phase 3 riluzole;Placebo comparator
2 Safety and Efficacy of Umbilical Cord Mesenchymal Stem Cell Therapy for Patients With Hereditary Ataxia Unknown status NCT01360164 Phase 1, Phase 2
3 Effect of Riluzole as a Symptomatic Approach in Patients With Chronic Cerebellar Ataxia Completed NCT00202397 Phase 2 Riluzole
4 Clinical and Molecular Correlations in Spinocerebellar Ataxia Type 10 (SCA10) Completed NCT00004306
5 The Effects Of Whole Body Vibration On Postural Control In Patients With Ataxia Completed NCT02977377 Not Applicable
6 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
7 Phenotype/Genotype Correlations in Movement Disorders Recruiting NCT00018889

Search NIH Clinical Center for Hereditary Ataxia

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Hereditary Ataxia cell therapies at LifeMap Discovery.

Genetic Tests for Hereditary Ataxia

Genetic tests related to Hereditary Ataxia:

# Genetic test Affiliating Genes
1 Hereditary Ataxia 29

Anatomical Context for Hereditary Ataxia

MalaCards organs/tissues related to Hereditary Ataxia:

41
Eye, Cerebellum, Testes, Brain, Tongue, Bone
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Hereditary Ataxia:
# Tissue Anatomical CompartmentCell Relevance
1 Umbilical Cord Wharton's Jelly Mesenchymal Stem Cells Potential therapeutic candidate

Publications for Hereditary Ataxia

Articles related to Hereditary Ataxia:

(show top 50) (show all 126)
# Title Authors Year
1
Molecular genetic testing for hereditary ataxia: What every neurologist should know. ( 29517052 )
2018
2
Genetics of Hereditary Ataxia in Scottish Terriers. ( 28556454 )
2017
3
Mortality Statistics and their Contribution to Improving the Knowledge of Rare Diseases Epidemiology: The Example of Hereditary Ataxia in Europe. ( 29214590 )
2017
4
Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia. ( 28362824 )
2017
5
Correction: Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia. ( 29023604 )
2017
6
Bone mineral density in patients with multiple sclerosis, hereditary ataxia or hereditary spastic paraplegia after at least 10A years of disease - a case control study. ( 27919248 )
2016
7
NGS-based molecular diagnosis of hereditary ataxia is cost-efficient: an illustrative family. ( 27261485 )
2016
8
Genome-wide association study for hereditary ataxia in the Parson Russell Terrier and DNA-testing for ataxia-associated mutations in the Parson and Jack Russell Terrier. ( 27724896 )
2016
9
A KCNJ10 mutation previously identified in the Russell group of terriers also occurs in Smooth-Haired Fox Terriers with hereditary ataxia and in related breeds. ( 25998802 )
2015
10
Treatment for dysphagia (swallowing difficulties) in hereditary ataxia. ( 26564018 )
2015
11
Genetic analysis of ten common degenerative hereditary ataxia loci in patients with essential tremor. ( 26077168 )
2015
12
The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies. ( 24603320 )
2014
13
The global epidemiology of hereditary ataxia and spastic paraplegia: what are the messages? ( 24603355 )
2014
14
Friedreich's ataxia and other hereditary ataxias in Greece: An 18-year perspective. ( 24209901 )
2014
15
Canine hereditary ataxia in old english sheepdogs and gordon setters is associated with a defect in the autophagy gene encoding RAB24. ( 24516392 )
2014
16
A familial latea89onset hereditary ataxia mimicking pontocerebellar hypoplasia caused by a novel TSEN54 mutation. ( 24938831 )
2014
17
Canine hereditary ataxia. ( 25441626 )
2014
18
Hereditary ataxia in Jack Russell terriers in the UK. ( 24736825 )
2014
19
Hereditary ataxia in Jack Russell terriers in the UK. ( 24736826 )
2014
20
Treatment for speech disorder in Friedreich ataxia and other hereditary ataxia syndromes. ( 25348587 )
2014
21
Progressive cerebellar atrophy: hereditary ataxias and disorders with spinocerebellar degeneration. ( 23622410 )
2013
22
Hereditary ataxia and spastic paraplegia in Portugal: a population-based prevalence study. ( 23609960 )
2013
23
Autosomal dominant hereditary ataxia in Sri Lanka. ( 23634774 )
2013
24
The reciprocal cerebellar circuitry in human hereditary ataxia. ( 23389921 )
2013
25
Hereditary ataxia in Jack Russell terriers in the UK. ( 22634896 )
2012
26
Hereditary ataxia, myokymia and neuromyotonia in Jack Russell terriers. ( 22872628 )
2012
27
Human umbilical cord blood-derived mononuclear cell transplantation: case series of 30 subjects with hereditary ataxia. ( 21575250 )
2011
28
Yet another gene mutation: dysfunction in mitochondrial protein quality control causing hereditary ataxia. ( 20738332 )
2010
29
Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28. ( 20208537 )
2010
30
Longitudinal cerebral blood flow changes during speech in hereditary ataxia. ( 20417959 )
2010
31
New aspects of hereditary ataxia in smooth-haired fox terriers. ( 20435980 )
2010
32
Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study. ( 19339254 )
2009
33
Suppression of saccadic intrusions in hereditary ataxia by memantine. ( 18316692 )
2008
34
Cognition in hereditary ataxia. ( 17786824 )
2007
35
Hereditary ataxia SCAN1 cells are defective for the repair of transcription-dependent topoisomerase I cleavage complexes. ( 16935573 )
2006
36
Mapping cerebral blood flow during speech production in hereditary ataxia. ( 16443374 )
2006
37
Hereditary ataxia, spastic paraparesis and neuropathy in the French-Canadian population. ( 16736723 )
2006
38
Hereditary ataxia and behavior. ( 16383226 )
2005
39
[SCA-7. Cone-rod dystrophy in the context of an hereditary ataxia]. ( 16311960 )
2005
40
Impact of presymptomatic genetic testing for hereditary ataxia and neuromuscular disorders: where is the evidence? ( 15642867 )
2005
41
Eyeblink conditioning in patients with hereditary ataxia: a one-year follow-up study. ( 15586270 )
2005
42
Hereditary ataxia in the Jack Russell Terrier--clinical and genetic investigations. ( 15320590 )
2004
43
Impact of presymptomatic genetic testing for hereditary ataxia and neuromuscular disorders. ( 15210524 )
2004
44
Hereditary ataxias and paediatric neurology: new movers and shakers enter the field. ( 14511625 )
2003
45
Olfactory dysfunction in hereditary ataxia and basal ganglia disorders. ( 12876469 )
2003
46
A line of Berlin Druckrey IV rats proposed as a new model for human hereditary ataxia. ( 12224135 )
2002
47
Hereditary ataxia. Finding balance. ( 11784585 )
2001
48
Non-expanded polyglutamine proteins in intranuclear inclusions of hereditary ataxias--triple-labeling immunofluorescence study. ( 11563629 )
2001
49
Hereditary ataxia. An unfolded protein. ( 11784584 )
2001
50
[Distribution of dominant hereditary ataxias and Friedreich's ataxia in the Spanish population]. ( 10996881 )
2000

Variations for Hereditary Ataxia

Expression for Hereditary Ataxia

Search GEO for disease gene expression data for Hereditary Ataxia.

Pathways for Hereditary Ataxia

Pathways related to Hereditary Ataxia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.73 APTX ATM TDP1 TOP1
2
Show member pathways
11.71 ATM ATXN1 ATXN10 ATXN2 ATXN3 ATXN7

GO Terms for Hereditary Ataxia

Cellular components related to Hereditary Ataxia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleolus GO:0005730 9.8 APTX ATM ATXN1 ATXN3 ATXN7 FMR1
2 neuronal cell body GO:0043025 9.72 ATXN10 CACNA1A FMR1 KCNA1 SPTBN2
3 perikaryon GO:0043204 9.58 FMR1 KCNA1 TOP1
4 cytoplasm GO:0005737 9.53 APTX ATM ATN1 ATXN1 ATXN10 ATXN2
5 nuclear matrix GO:0016363 9.46 ATN1 ATXN1 ATXN3 ATXN7
6 nuclear inclusion body GO:0042405 9.37 ATXN1 ATXN3
7 m-AAA complex GO:0005745 8.96 AFG3L2 SPG7

Biological processes related to Hereditary Ataxia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neuromuscular process GO:0050905 9.4 CACNA1A KCNA1
2 mitochondrial calcium ion transmembrane transport GO:0006851 9.37 AFG3L2 SPG7
3 protein autoprocessing GO:0016540 9.32 AFG3L2 FXN
4 positive regulation of response to DNA damage stimulus GO:2001022 9.26 ATM FMR1
5 positive regulation of histone phosphorylation GO:0033129 9.16 ATM FMR1
6 single strand break repair GO:0000012 8.96 APTX TDP1
7 mitochondrion organization GO:0007005 8.92 AFG3L2 FXN SPG7 TWNK

Molecular functions related to Hereditary Ataxia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.6 AFG3L2 APTX ATM ATN1 ATXN1 ATXN10
2 double-stranded DNA binding GO:0003690 9.43 APTX TDP1 TOP1
3 poly(U) RNA binding GO:0008266 9.32 ATXN1 FMR1
4 single-stranded DNA binding GO:0003697 9.26 APTX TDP1 TOP1 TWNK
5 poly(G) binding GO:0034046 9.16 ATXN1 FMR1

Sources for Hereditary Ataxia

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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