MCID: HRD026
MIFTS: 48

Hereditary Ataxia

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Hereditary Ataxia

MalaCards integrated aliases for Hereditary Ataxia:

Name: Hereditary Ataxia 39 12 77 25 54 30 15 17
Ataxias, Hereditary 74
Ataxias Hereditary 56

Classifications:



External Ids:

Disease Ontology 12 DOID:0050951
ICD10 34 G11
UMLS 74 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 autosomal recessive cerebellar ataxia. An important gene associated with Hereditary Ataxia is ATXN1 (Ataxin 1), and among its related pathways/superpathways are Akt Signaling and Chks in Checkpoint Regulation. The drugs Riluzole and Excitatory Amino Acid Antagonists have been mentioned in the context of this disorder. Affiliated tissues include Umbilical Cord, eye and cerebellum, and related phenotypes are no effect and Decreased viability after ionizing radiation

Wikipedia : 77 Ataxia is a neurological sign consisting of lack of voluntary coordination of muscle movements that can... 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 234)
# Related Disease Score Top Affiliating Genes
1 machado-joseph disease 32.2 ATN1 ATXN1 ATXN2 ATXN3 ATXN7 CACNA1A
2 autosomal recessive cerebellar ataxia 31.1 ATM FXN SPG7 SPTBN2 TDP1 TWNK
3 spinocerebellar ataxia 28 31.0 AFG3L2 PRKCG SPG7
4 friedreich ataxia 1 30.8 ATXN1 ATXN3 CACNA1A FMR1 FXN
5 spinocerebellar ataxia 31 30.7 ATXN3 ATXN7 CACNA1A
6 episodic ataxia, type 7 30.6 CACNA1A KCNA1
7 spinocerebellar ataxia 27 30.5 CACNA1A KCNA1
8 spinocerebellar ataxia 36 30.5 ATXN10 ATXN2 PPP2R2B
9 spinocerebellar ataxia type 1 with axonal neuropathy 30.4 TDP1 TOP1
10 spinocerebellar ataxia 1 30.4 ATN1 ATXN1 ATXN3 ATXN7 CACNA1A
11 spinocerebellar ataxia 18 30.4 ATXN3 ATXN7 CACNA1A SPTBN2
12 spinocerebellar ataxia 8 30.3 ATXN10 PPP2R2B TWNK
13 spinocerebellar ataxia 17 30.3 ATN1 ATXN3 ATXN7 CACNA1A TBP
14 spinocerebellar ataxia 2 30.3 ATXN2 ATXN3 ATXN7 CACNA1A
15 autosomal dominant cerebellar ataxia 30.2 AFG3L2 ATN1 ATXN1 ATXN10 ATXN2 ATXN3
16 spinocerebellar ataxia 6 30.2 ATXN3 ATXN7 CACNA1A KCNA1
17 episodic ataxia, type 2 30.2 CACNA1A KCNA1
18 3-methylglutaconic aciduria, type iii 29.9 AFG3L2 FXN SPG7
19 dentatorubral-pallidoluysian atrophy 29.9 ATN1 ATXN2 ATXN3 ATXN7 CACNA1A PPP2R2B
20 spinocerebellar ataxia 12 29.6 ATN1 ATXN1 ATXN2 ATXN3 ATXN7 CACNA1A
21 aceruloplasminemia 27.5 AFG3L2 ATM ATXN1 ATXN10 ATXN2 ATXN3
22 x-linked hereditary ataxia 12.3
23 spinocerebellar ataxia, autosomal recessive 4 11.3
24 spastic ataxia 11.2
25 ataxia, sensory, 1, autosomal dominant 10.9
26 fragile x-associated tremor/ataxia syndrome 10.9
27 episodic ataxia 10.9
28 mousa al din al nassar syndrome 10.9
29 hereditary spastic paraplegia 10.6
30 ataxia-telangiectasia 10.5
31 mitochondrial dna depletion syndrome 7 10.5
32 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 10.5
33 ataxia and polyneuropathy, adult-onset 10.4
34 kearns-sayre syndrome 10.2 AFG3L2 ATXN7 TWNK
35 cerebellar degeneration 10.2 ATM ATXN2 CACNA1A
36 paraplegia 10.2
37 episodic ataxia, type 1 10.2
38 spinocerebellar ataxia 7 10.2
39 spastic paraplegia 3, autosomal dominant 10.2
40 spastic paraplegia 4, autosomal dominant 10.2
41 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 10.2
42 gordon holmes syndrome 10.2
43 boucher-neuhauser syndrome 10.2
44 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 10.2
45 mast syndrome 10.2
46 galloway-mowat syndrome 1 10.2
47 spastic paraplegia 17, autosomal dominant 10.2
48 spastic paraplegia 15, autosomal recessive 10.2
49 spastic paraplegia 5a, autosomal recessive 10.2
50 spinocerebellar ataxia with dysmorphism 10.2

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:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 9.92 AFG3L2 ATM ATN1 ATXN1 ATXN10 ATXN2
2 Decreased viability after ionizing radiation GR00232-A-2 9.13 ATM ATXN3 TOP1

MGI Mouse Phenotypes related to Hereditary Ataxia:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.22 AFG3L2 ATM ATN1 ATXN1 ATXN2 ATXN3
2 growth/size/body region MP:0005378 10.07 AFG3L2 ATM ATN1 ATXN1 ATXN2 ATXN7
3 homeostasis/metabolism MP:0005376 9.9 ATM ATN1 ATXN1 ATXN2 ATXN3 CACNA1A
4 mortality/aging MP:0010768 9.77 AFG3L2 ATM ATN1 ATXN1 ATXN10 ATXN2
5 nervous system MP:0003631 9.53 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 26)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Riluzole Approved, Investigational Phase 2, Phase 3 1744-22-5 5070
2 Excitatory Amino Acid Antagonists Phase 2, Phase 3
3 Neurotransmitter Agents Phase 2, Phase 3
4 Neuroprotective Agents Phase 2, Phase 3
5 Anticonvulsants Phase 2, Phase 3
6 Excitatory Amino Acids Phase 2, Phase 3
7 Protective Agents Phase 2, Phase 3
8
Nicotinamide Approved, Investigational Phase 2 98-92-0 936
9
Calcium Approved, Nutraceutical Phase 2 7440-70-2 271
10
Niacin Approved, Investigational, Nutraceutical Phase 2 59-67-6 938
11
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
12 Calcium, Dietary Phase 2
13 Vasodilator Agents Phase 2
14 Hypolipidemic Agents Phase 2
15 Nicotinic Acids Phase 2
16 Trace Elements Phase 2
17 Vitamins Phase 2
18 Antimetabolites Phase 2
19 Nutrients Phase 2
20 Vitamin B Complex Phase 2
21 Folate Phase 2
22 Lipid Regulating Agents Phase 2
23 Vitamin B9 Phase 2
24 Micronutrients Phase 2
25 Vitamin B3 Phase 2
26
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 Study of the Efficacy and Safety of Nicotinamide in Patients With Friedreich Ataxia Not yet recruiting NCT03761511 Phase 2 Nicotinamide;Placebo
5 Clinical and Molecular Correlations in Spinocerebellar Ataxia Type 10 (SCA10) Completed NCT00004306
6 The Effects Of Whole Body Vibration On Postural Control In Patients With Ataxia Completed NCT02977377 Not Applicable
7 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
8 Phenotype/Genotype Correlations in Movement Disorders Recruiting NCT00018889
9 The Effects of Game Based Exercise Training on Balance and Postural Control in Patients With Ataxia Recruiting NCT03607058 Not Applicable

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 30

Anatomical Context for Hereditary Ataxia

MalaCards organs/tissues related to Hereditary Ataxia:

42
Eye, Cerebellum, Bone, Testes, Brain, Tongue
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 119)
# Title Authors Year
1
Reply: Biallelic POLR3A variants confirmed as a frequent cause of hereditary ataxia and spastic paraparesis. ( 30847463 )
2019
2
Biallelic POLR3A variants confirmed as a frequent cause of hereditary ataxia and spastic paraparesis. ( 30847471 )
2019
3
Molecular genetic testing for hereditary ataxia: What every neurologist should know. ( 29517052 )
2018
4
Hereditary ataxia in four related Norwegian Buhunds. ( 30179085 )
2018
5
Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia. ( 28362824 )
2017
6
Genetics of Hereditary Ataxia in Scottish Terriers. ( 28556454 )
2017
7
Correction: Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia. ( 29023604 )
2017
8
Mortality Statistics and their Contribution to Improving the Knowledge of Rare Diseases Epidemiology: The Example of Hereditary Ataxia in Europe. ( 29214590 )
2017
9
NGS-based molecular diagnosis of hereditary ataxia is cost-efficient: an illustrative family. ( 27261485 )
2016
10
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
11
Bone mineral density in patients with multiple sclerosis, hereditary ataxia or hereditary spastic paraplegia after at least 10 years of disease - a case control study. ( 27919248 )
2016
12
Standardized Assessment of Hereditary Ataxia Patients in Clinical Studies. ( 30363623 )
2016
13
Treatment for dysphagia (swallowing difficulties) in hereditary ataxia. ( 26564018 )
2015
14
Genetic analysis of ten common degenerative hereditary ataxia loci in patients with essential tremor. ( 26077168 )
2015
15
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
16
Canine hereditary ataxia in old english sheepdogs and gordon setters is associated with a defect in the autophagy gene encoding RAB24. ( 24516392 )
2014
17
The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies. ( 24603320 )
2014
18
The global epidemiology of hereditary ataxia and spastic paraplegia: what are the messages? ( 24603355 )
2014
19
Hereditary ataxia in Jack Russell terriers in the UK. ( 24736825 )
2014
20
Hereditary ataxia in Jack Russell terriers in the UK. ( 24736826 )
2014
21
A familial late‑onset hereditary ataxia mimicking pontocerebellar hypoplasia caused by a novel TSEN54 mutation. ( 24938831 )
2014
22
Treatment for speech disorder in Friedreich ataxia and other hereditary ataxia syndromes. ( 25348587 )
2014
23
Canine hereditary ataxia. ( 25441626 )
2014
24
The reciprocal cerebellar circuitry in human hereditary ataxia. ( 23389921 )
2013
25
Hereditary ataxia and spastic paraplegia in Portugal: a population-based prevalence study. ( 23609960 )
2013
26
Autosomal dominant hereditary ataxia in Sri Lanka. ( 23634774 )
2013
27
Hereditary ataxia in Jack Russell terriers in the UK. ( 22634896 )
2012
28
Hereditary ataxia, myokymia and neuromyotonia in Jack Russell terriers. ( 22872628 )
2012
29
Human umbilical cord blood-derived mononuclear cell transplantation: case series of 30 subjects with hereditary ataxia. ( 21575250 )
2011
30
Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28. ( 20208537 )
2010
31
Longitudinal cerebral blood flow changes during speech in hereditary ataxia. ( 20417959 )
2010
32
New aspects of hereditary ataxia in smooth-haired fox terriers. ( 20435980 )
2010
33
Yet another gene mutation: dysfunction in mitochondrial protein quality control causing hereditary ataxia. ( 20738332 )
2010
34
Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study. ( 19339254 )
2009
35
Suppression of saccadic intrusions in hereditary ataxia by memantine. ( 18316692 )
2008
36
Cognition in hereditary ataxia. ( 17786824 )
2007
37
Mapping cerebral blood flow during speech production in hereditary ataxia. ( 16443374 )
2006
38
Hereditary ataxia, spastic paraparesis and neuropathy in the French-Canadian population. ( 16736723 )
2006
39
Hereditary ataxia SCAN1 cells are defective for the repair of transcription-dependent topoisomerase I cleavage complexes. ( 16935573 )
2006
40
Eyeblink conditioning in patients with hereditary ataxia: a one-year follow-up study. ( 15586270 )
2005
41
Impact of presymptomatic genetic testing for hereditary ataxia and neuromuscular disorders: where is the evidence? ( 15642867 )
2005
42
Hereditary ataxia and behavior. ( 16383226 )
2005
43
[SCA-7. Cone-rod dystrophy in the context of an hereditary ataxia]. ( 16311960 )
2005
44
Impact of presymptomatic genetic testing for hereditary ataxia and neuromuscular disorders. ( 15210524 )
2004
45
Hereditary ataxia in the Jack Russell Terrier--clinical and genetic investigations. ( 15320590 )
2004
46
Olfactory dysfunction in hereditary ataxia and basal ganglia disorders. ( 12876469 )
2003
47
A line of Berlin Druckrey IV rats proposed as a new model for human hereditary ataxia. ( 12224135 )
2002
48
Hereditary ataxia. An unfolded protein. ( 11784584 )
2001
49
Hereditary ataxia. Finding balance. ( 11784585 )
2001
50
Hereditary spastic paraplegia and hereditary ataxia, Part 2: A family demonstrating various phenotypic manifestations with the SCA3 genotype. ( 10815141 )
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
Show member pathways
12.85 ATXN1 ATXN10 ATXN2 ATXN3 ATXN7 PPP2R2B
2
Show member pathways
11.71 ATM ATXN1 ATXN10 ATXN2 ATXN3 ATXN7
3 11.61 CACNA1A KCNA1 PPP2R2B PRKCG

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 perinuclear region of cytoplasm GO:0048471 9.85 ATN1 ATXN10 ATXN2 FMR1 PRKCG
2 dendrite GO:0030425 9.72 ATXN10 CACNA1A FMR1 KCNA1 PRKCG
3 neuronal cell body GO:0043025 9.65 ATXN10 CACNA1A FMR1 KCNA1 SPTBN2
4 perikaryon GO:0043204 9.61 FMR1 KCNA1 TOP1
5 presynapse GO:0098793 9.58 CACNA1A FMR1 SPTBN2
6 cytoplasm GO:0005737 9.5 ATM ATN1 ATXN1 ATXN10 ATXN2 ATXN3
7 calyx of Held GO:0044305 9.48 KCNA1 PRKCG
8 nuclear matrix GO:0016363 9.46 ATN1 ATXN1 ATXN3 ATXN7
9 nuclear inclusion body GO:0042405 9.37 ATXN1 ATXN3
10 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 chemical synaptic transmission GO:0007268 9.46 ATXN3 CACNA1A KCNA1 PRKCG
2 mitochondrial calcium ion transmembrane transport GO:0006851 9.4 AFG3L2 SPG7
3 response to pain GO:0048265 9.37 CACNA1A PRKCG
4 protein autoprocessing GO:0016540 9.32 AFG3L2 FXN
5 positive regulation of response to DNA damage stimulus GO:2001022 9.26 ATM FMR1
6 positive regulation of histone phosphorylation GO:0033129 8.96 ATM FMR1
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 9.55 AFG3L2 ATM ATN1 ATXN1 ATXN10 ATXN2
2 single-stranded DNA binding GO:0003697 9.33 TDP1 TOP1 TWNK
3 poly(G) binding GO:0034046 8.96 ATXN1 FMR1

Sources for Hereditary Ataxia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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