MCID: HRD026
MIFTS: 43

Hereditary Ataxia

Categories: Rare diseases, Neuronal diseases

Aliases & Classifications for Hereditary Ataxia

MalaCards integrated aliases for Hereditary Ataxia:

Name: Hereditary Ataxia 37 72 23 49 28
Ataxias, Hereditary 69
Ataxias Hereditary 51

Classifications:



External Ids:

ICD10 32 G11
UMLS 69 C0004138

Summaries for Hereditary Ataxia

MalaCards based summary : Hereditary Ataxia, also known as ataxias, hereditary, is related to autosomal recessive cerebellar ataxia and spinocerebellar ataxia, autosomal recessive, with axonal neuropathy. An important gene associated with Hereditary Ataxia is ATXN1 (Ataxin 1), and among its related pathways/superpathways is Chks in Checkpoint Regulation. The drugs Riluzole and Anticonvulsants have been mentioned in the context of this disorder. Affiliated tissues include Umbilical Cord, cerebellum and testes, and related phenotypes are behavior/neurological and nervous system

Wikipedia : 72 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 232)
# Related Disease Score Top Affiliating Genes
1 autosomal recessive cerebellar ataxia 31.2 FXN SPG7 TDP1
2 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 31.1 TDP1 TOP1
3 hereditary spastic paraplegia 30.7 AFG3L2 ATXN3 SPG7
4 machado-joseph disease 30.4 ATN1 ATXN1 ATXN2 ATXN3 ATXN7 CACNA1A
5 spinocerebellar ataxia 28 30.1 AFG3L2 SPG7
6 spinocerebellar ataxia 7 30.1 ATXN2 ATXN7
7 spinocerebellar ataxia 18 30.0 ATXN3 ATXN7 CACNA1A
8 spastic paraplegia 7, autosomal recessive 30.0 AFG3L2 SPG7
9 spinocerebellar ataxia 36 30.0 ATXN2 PPP2R2B
10 spinocerebellar ataxia 31 30.0 ATXN3 ATXN7 CACNA1A
11 spinocerebellar ataxia 8 30.0 PPP2R2B TWNK
12 spinocerebellar ataxia 6 29.8 ATXN3 ATXN7 CACNA1A
13 friedreich ataxia 1 29.6 ATXN1 ATXN2 ATXN3 CACNA1A FXN
14 spinocerebellar degeneration 29.3 ATXN1 ATXN2 ATXN3 TDP1
15 spinocerebellar ataxia 2 29.3 ATXN2 ATXN3 ATXN7 CACNA1A
16 spinocerebellar ataxia 1 28.9 ATN1 ATXN1 ATXN3 ATXN7 CACNA1A
17 spinocerebellar ataxia 17 28.5 ATN1 ATXN3 ATXN7 CACNA1A TBP
18 autosomal dominant cerebellar ataxia 28.0 AFG3L2 ATN1 ATXN1 ATXN2 ATXN3 ATXN7
19 dentatorubral-pallidoluysian atrophy 27.2 ATN1 ATXN1 ATXN2 ATXN3 ATXN7 CACNA1A
20 spinocerebellar ataxia 12 27.0 ATN1 ATXN1 ATXN2 ATXN3 ATXN7 CACNA1A
21 x-linked hereditary ataxia 11.9
22 fragile x-associated tremor/ataxia syndrome 10.8
23 episodic ataxia 10.8
24 ataxia and polyneuropathy, adult-onset 10.6
25 neuronal intranuclear inclusion disease 10.4 ATXN1 ATXN3
26 ataxia-telangiectasia 10.3
27 mitochondrial dna depletion syndrome 7 10.3
28 spinocerebellar ataxia type 1 with axonal neuropathy 10.3
29 spinal and bulbar muscular atrophy, x-linked 1 10.3 ATXN1 ATXN3 ATXN7
30 kearns-sayre syndrome 10.2 AFG3L2 ATXN7 TWNK
31 olivopontocerebellar atrophy 10.2 ATXN2 ATXN7
32 spasticity 10.1
33 paraplegia 10.1
34 mitochondrial disorders 10.0 FXN SPG7 TWNK
35 episodic ataxia, type 2 10.0
36 episodic ataxia, type 1 10.0
37 spastic paraplegia 3, autosomal dominant 10.0
38 spastic paraplegia 4, autosomal dominant 10.0
39 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 10.0
40 gordon holmes syndrome 10.0
41 boucher-neuhauser syndrome 10.0
42 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 10.0
43 mast syndrome 10.0
44 galloway-mowat syndrome 1 10.0
45 spastic paraplegia 17, autosomal dominant 10.0
46 spastic paraplegia 15, autosomal recessive 10.0
47 spastic paraplegia 23 10.0
48 spastic paraplegia 5a, autosomal recessive 10.0
49 spinocerebellar ataxia with dysmorphism 10.0
50 spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia 10.0

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



Diseases related to Hereditary Ataxia

Symptoms & Phenotypes for Hereditary Ataxia

MGI Mouse Phenotypes related to Hereditary Ataxia:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.7 SPG7 TBP TDP1 AFG3L2 ATN1 ATXN1
2 nervous system MP:0003631 9.36 FXN SPG7 TBP TDP1 AFG3L2 ATN1

Drugs & Therapeutics for Hereditary Ataxia

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

(show all 8)
# 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

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 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
6 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 28

Anatomical Context for Hereditary Ataxia

MalaCards organs/tissues related to Hereditary Ataxia:

38
Cerebellum, Testes, Brain, Eye, 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 121)
# Title Authors Year
1
Correction: Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia. ( 29023604 )
2017
2
Mortality Statistics and their Contribution to Improving the Knowledge of Rare Diseases Epidemiology: The Example of Hereditary Ataxia in Europe. ( 29214590 )
2017
3
Genetics of Hereditary Ataxia in Scottish Terriers. ( 28556454 )
2017
4
Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia. ( 28362824 )
2017
5
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
6
NGS-based molecular diagnosis of hereditary ataxia is cost-efficient: an illustrative family. ( 27261485 )
2016
7
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
8
Treatment for dysphagia (swallowing difficulties) in hereditary ataxia. ( 26564018 )
2015
9
Genetic analysis of ten common degenerative hereditary ataxia loci in patients with essential tremor. ( 26077168 )
2015
10
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
11
The global epidemiology of hereditary ataxia and spastic paraplegia: what are the messages? ( 24603355 )
2014
12
Hereditary ataxia in Jack Russell terriers in the UK. ( 24736826 )
2014
13
Canine hereditary ataxia in old english sheepdogs and gordon setters is associated with a defect in the autophagy gene encoding RAB24. ( 24516392 )
2014
14
The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies. ( 24603320 )
2014
15
Hereditary ataxia in Jack Russell terriers in the UK. ( 24736825 )
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
Friedreich's ataxia and other hereditary ataxias in Greece: An 18-year perspective. ( 24209901 )
2014
19
Treatment for speech disorder in Friedreich ataxia and other hereditary ataxia syndromes. ( 25348587 )
2014
20
Progressive cerebellar atrophy: hereditary ataxias and disorders with spinocerebellar degeneration. ( 23622410 )
2013
21
Autosomal dominant hereditary ataxia in Sri Lanka. ( 23634774 )
2013
22
Hereditary ataxia and spastic paraplegia in Portugal: a population-based prevalence study. ( 23609960 )
2013
23
The reciprocal cerebellar circuitry in human hereditary ataxia. ( 23389921 )
2013
24
Hereditary ataxia, myokymia and neuromyotonia in Jack Russell terriers. ( 22872628 )
2012
25
Hereditary ataxia in Jack Russell terriers in the UK. ( 22634896 )
2012
26
Human umbilical cord blood-derived mononuclear cell transplantation: case series of 30 subjects with hereditary ataxia. ( 21575250 )
2011
27
Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28. ( 20208537 )
2010
28
Yet another gene mutation: dysfunction in mitochondrial protein quality control causing hereditary ataxia. ( 20738332 )
2010
29
Longitudinal cerebral blood flow changes during speech in hereditary ataxia. ( 20417959 )
2010
30
New aspects of hereditary ataxia in smooth-haired fox terriers. ( 20435980 )
2010
31
Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study. ( 19339254 )
2009
32
Suppression of saccadic intrusions in hereditary ataxia by memantine. ( 18316692 )
2008
33
Cognition in hereditary ataxia. ( 17786824 )
2007
34
Hereditary ataxia, spastic paraparesis and neuropathy in the French-Canadian population. ( 16736723 )
2006
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 and behavior. ( 16383226 )
2005
38
Eyeblink conditioning in patients with hereditary ataxia: a one-year follow-up study. ( 15586270 )
2005
39
Impact of presymptomatic genetic testing for hereditary ataxia and neuromuscular disorders: where is the evidence? ( 15642867 )
2005
40
[SCA-7. Cone-rod dystrophy in the context of an hereditary ataxia]. ( 16311960 )
2005
41
Hereditary ataxia in the Jack Russell Terrier--clinical and genetic investigations. ( 15320590 )
2004
42
Impact of presymptomatic genetic testing for hereditary ataxia and neuromuscular disorders. ( 15210524 )
2004
43
Olfactory dysfunction in hereditary ataxia and basal ganglia disorders. ( 12876469 )
2003
44
A line of Berlin Druckrey IV rats proposed as a new model for human hereditary ataxia. ( 12224135 )
2002
45
Hereditary ataxia. Finding balance. ( 11784585 )
2001
46
Hereditary ataxia. An unfolded protein. ( 11784584 )
2001
47
Non-expanded polyglutamine proteins in intranuclear inclusions of hereditary ataxias--triple-labeling immunofluorescence study. ( 11563629 )
2001
48
Hereditary spastic paraplegia and hereditary ataxia, Part 2: A family demonstrating various phenotypic manifestations with the SCA3 genotype. ( 10815141 )
2000
49
[Distribution of dominant hereditary ataxias and Friedreich's ataxia in the Spanish population]. ( 10996881 )
2000
50
Genes involved in hereditary ataxias. ( 9735950 )
1998

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
Show member pathways
11.53 ATXN1 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 9.65 ATXN1 ATXN3 ATXN7 TOP1 TSEN54
2 nuclear inclusion body GO:0042405 9.16 ATXN1 ATXN3
3 m-AAA complex GO:0005745 8.96 AFG3L2 SPG7
4 nuclear matrix GO:0016363 8.92 ATN1 ATXN1 ATXN3 ATXN7

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

# Name GO ID Score Top Affiliating Genes
1 adult walking behavior GO:0007628 9.26 CACNA1A FXN
2 mitochondrial calcium ion transmembrane transport GO:0006851 9.16 AFG3L2 SPG7
3 protein autoprocessing GO:0016540 8.96 AFG3L2 FXN
4 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 9.8 AFG3L2 ATN1 ATXN1 ATXN2 ATXN3 ATXN7
2 single-stranded DNA binding GO:0003697 8.8 TDP1 TOP1 TWNK

Sources for Hereditary Ataxia

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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