MCID: HRD026
MIFTS: 42

Hereditary Ataxia

Categories: Rare diseases, Neuronal diseases, Genetic diseases

Aliases & Classifications for Hereditary Ataxia

MalaCards integrated aliases for Hereditary Ataxia:

Name: Hereditary Ataxia 38 23 50 29
Ataxias, Hereditary 69
Hereditary Ataxias 24
Ataxias Hereditary 52
Sca 24

Classifications:



External Ids:

ICD10 33 G11

Summaries for Hereditary Ataxia

MalaCards based summary : Hereditary Ataxia, also known as ataxias, hereditary, is related to x-linked hereditary ataxia and spastic ataxia 5, autosomal recessive. 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, bone and bone marrow, and related phenotypes are behavior/neurological and nervous system

GeneReviews: NBK1138

Related Diseases for Hereditary Ataxia

Diseases in the Ataxia family:

Hereditary Ataxia

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

(show top 50) (show all 247)
id Related Disease Score Top Affiliating Genes
1 x-linked hereditary ataxia 32.7 FXN SPG7 TDP1
2 spastic ataxia 5, autosomal recessive 30.1 AFG3L2 SPG7
3 hereditary spastic paraplegia 23.2 AFG3L2 ATN1 ATXN1 ATXN2 ATXN3 ATXN7
4 machado-joseph disease 11.2
5 spinocerebellar ataxia 7 11.0
6 autosomal dominant cerebellar ataxia 10.8
7 fragile x-associated tremor/ataxia syndrome 10.6
8 autosomal recessive cerebellar ataxia 10.6
9 episodic ataxia 10.6
10 ataxia 10.6
11 achondrogenesis, type ia 10.5 TDP1 TOP1
12 basilar impression, primary 10.5 ATXN1 ATXN3
13 hypospadias 1, x-linked 10.5 ATXN1 ATXN3 ATXN7
14 ataxia-telangiectasia 10.3
15 mental retardation with spastic paraplegia 10.3 AFG3L2 ATXN7 TWNK
16 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 10.3 AFG3L2 SPG7
17 auditory neuropathy, autosomal dominant, 1 10.2 PPP2R2B TWNK
18 friedreich ataxia 10.2
19 ichthyosis prematurity syndrome 10.2 ATXN1 FXN
20 cystic echinococcosis 10.2 ATXN2 ATXN7
21 mednik syndrome 10.1 ATXN3 ATXN7 CACNA1A
22 epileptic encephalopathy, early infantile, 42 10.1 ATXN3 ATXN7 CACNA1A
23 hypogonadotropic hypogonadism 3 with or without anosmia 10.1 ATXN2 PPP2R2B
24 hyperalphalipoproteinemia 10.1 ATXN3 ATXN7 CACNA1A
25 adams-oliver syndrome 4 10.1 ATXN2 ATXN7
26 spasticity 10.1
27 paraplegia 10.0
28 syringohydromyelia 10.0 ATXN1 ATXN2 ATXN3 TDP1
29 spastic paraplegia 9a, autosomal dominant 9.9
30 dyscalculia 9.9 SPG7 TWNK
31 spastic paraplegia 29, autosomal dominant 9.8
32 spastic paraplegia 53, autosomal recessive 9.8
33 spastic paraplegia 64, autosomal recessive 9.8
34 spinocerebellar ataxia, autosomal recessive with axonal neuropathy 9.8
35 spastic paraplegia 7, autosomal recessive 9.8
36 cerebellar ataxia and hypogonadotropic hypogonadism 9.8
37 spastic paraplegia 63 9.8
38 spastic paraplegia 37, autosomal dominant 9.8
39 episodic ataxia/myokymia syndrome 9.8
40 spinocerebellar ataxia 40 9.8
41 spastic paraplegia 73, autosomal dominant 9.8
42 troyer syndrome 9.8
43 spastic paraplegia 77, autosomal recessive 9.8
44 spastic paraplegia 54, autosomal recessive 9.8
45 spastic paraplegia 10, autosomal dominant 9.8
46 spinocerebellar ataxia 42 9.8
47 spastic paraplegia 23 9.8
48 spinocerebellar ataxia 1 9.8
49 spastic paraplegia 18, autosomal recessive 9.8
50 spastic paraplegia 9b, autosomal recessive 9.8

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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.7 AFG3L2 ATN1 ATXN1 ATXN2 ATXN3 ATXN7
2 nervous system MP:0003631 9.36 CACNA1A FXN SPG7 TBP TDP1 AFG3L2

Drugs & Therapeutics for Hereditary Ataxia

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

(show all 32)
id 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,Phase 1
8 Heptavalent Pneumococcal Conjugate Vaccine Phase 3
9 Vaccines Phase 3
10
Varenicline Approved, Investigational Phase 2 249296-44-4 5310966
11 Calcium, Dietary Phase 2
12 Cholinergic Agents Phase 2
13 Nicotinic Agonists Phase 2
14 Antibodies Phase 2
15 gamma-Globulins Phase 2
16 Immunoglobulins Phase 2
17 Immunoglobulins, Intravenous Phase 2
18 Rho(D) Immune Globulin Phase 2
19
Idebenone Approved, Investigational Phase 1 58186-27-9
20 Antioxidants Phase 1
21 Micronutrients Phase 1
22 Trace Elements Phase 1
23 Ubiquinone Phase 1
24 Antidepressive Agents Phase 1
25 Antimanic Agents Phase 1
26 Central Nervous System Depressants Phase 1
27 Lithium carbonate Phase 1 554-13-2
28 Psychotropic Drugs Phase 1
29 Tranquilizing Agents Phase 1
30
Dopamine Approved 51-61-6, 62-31-7 681
31 Dopamine Agents
32 Dopamine agonists

Interventional clinical trials:

(show all 21)

id Name Status NCT ID Phase Drugs
1 Efficacy of Riluzole in Hereditary Cerebellar Ataxia Completed NCT01104649 Phase 2, Phase 3 riluzole;Placebo comparator
2 Conjugate Pneumococcal Vaccine in Ataxia Telangiectasia (AT) Completed NCT00656409 Phase 3 Conjugated pneumococcal vaccine (Prevenar)
3 Safety and Efficacy of Umbilical Cord Mesenchymal Stem Cell Therapy for Patients With Hereditary Ataxia Unknown status NCT01360164 Phase 1, Phase 2
4 A New Method to Treat Hereditary Cerebellar Ataxia - Umbilical Cord Mesenchymal Stem Cells Transplantation Unknown status NCT01489267 Phase 2
5 Effect of Riluzole as a Symptomatic Approach in Patients With Chronic Cerebellar Ataxia Completed NCT00202397 Phase 2 Riluzole
6 Study to Determine the Safety and Tolerability of Varenicline (Chantix®) in Treating Spinocerebellar Ataxia Type 3 Completed NCT00992771 Phase 2 varenicline;placebo
7 High-Dose Intravenous Immunoglobulin to Treat Cerebellar Degeneration Completed NCT00034242 Phase 2 high-dose intravenous immunoglobulin (IVIG)
8 Safety Study of Idebenone to Treat Friedreich's Ataxia Completed NCT00015808 Phase 1 Idebenone
9 Lithium Treatment for Patients With Spinocerebellar Ataxia Type I Completed NCT00683943 Phase 1 Lithium Carbonate
10 RISCA : Prospective Study of Individuals at Risk for SCA1, SCA2, SCA3, SCA6, SCA7 Unknown status NCT01037777
11 Clinical and Molecular Correlations in Spinocerebellar Ataxia Type 10 (SCA10) Completed NCT00004306
12 Neuromuscular Electrical Stimulation on Median Nerve Facilitates Low Motor Cortex Excitability in Human With Spinocerebellar Ataxia Completed NCT02103075
13 Parkinsonism in Spinocerebellar Ataxia Type 6 Completed NCT01934998
14 Emotional Communication Disorders in Cerebellar Disease Completed NCT02106819
15 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
16 Phenotype/Genotype Correlations in Movement Disorders Recruiting NCT00018889
17 Study of Inherited Neurological Disorders Recruiting NCT00004568
18 Characterization of the Cardiac Phenotype of Friedreich's Ataxia (FRDA) Recruiting NCT02316314
19 Cancer in Inherited Bone Marrow Failure Syndromes Recruiting NCT00027274
20 The EUROSCA Natural History Study Recruiting NCT02440763
21 A Study to Characterize the Cardiac Phenotype of Individuals With Friedreich's Ataxia (CARFA Study) Active, not recruiting NCT02840669

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:

id Genetic test Affiliating Genes
1 Hereditary Ataxia 29
2 Hereditary Ataxias 24

Anatomical Context for Hereditary Ataxia

MalaCards organs/tissues related to Hereditary Ataxia:

39
Bone, Bone Marrow, Cortex, Testes, Brain, Eye, Tongue
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Hereditary Ataxia:
id 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)
id Title Authors Year
1
Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia. ( 28362824 )
2017
2
Genetics of Hereditary Ataxia in Scottish Terriers. ( 28556454 )
2017
3
NGS-based molecular diagnosis of hereditary ataxia is cost-efficient: an illustrative family. ( 27261485 )
2016
4
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
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
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
7
Treatment for dysphagia (swallowing difficulties) in hereditary ataxia. ( 26564018 )
2015
8
Genetic analysis of ten common degenerative hereditary ataxia loci in patients with essential tremor. ( 26077168 )
2015
9
The global epidemiology of hereditary ataxia and spastic paraplegia: what are the messages? ( 24603355 )
2014
10
Treatment for speech disorder in Friedreich ataxia and other hereditary ataxia syndromes. ( 25348587 )
2014
11
A familial latea89onset hereditary ataxia mimicking pontocerebellar hypoplasia caused by a novel TSEN54 mutation. ( 24938831 )
2014
12
Canine hereditary ataxia. ( 25441626 )
2014
13
Hereditary ataxia in Jack Russell terriers in the UK. ( 24736825 )
2014
14
Canine hereditary ataxia in old english sheepdogs and gordon setters is associated with a defect in the autophagy gene encoding RAB24. ( 24516392 )
2014
15
The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies. ( 24603320 )
2014
16
Hereditary ataxia in Jack Russell terriers in the UK. ( 24736826 )
2014
17
Friedreich's ataxia and other hereditary ataxias in Greece: An 18-year perspective. ( 24209901 )
2014
18
Progressive cerebellar atrophy: hereditary ataxias and disorders with spinocerebellar degeneration. ( 23622410 )
2013
19
Autosomal dominant hereditary ataxia in Sri Lanka. ( 23634774 )
2013
20
The reciprocal cerebellar circuitry in human hereditary ataxia. ( 23389921 )
2013
21
Hereditary ataxia and spastic paraplegia in Portugal: a population-based prevalence study. ( 23609960 )
2013
22
Hereditary ataxia, myokymia and neuromyotonia in Jack Russell terriers. ( 22872628 )
2012
23
Hereditary ataxia in Jack Russell terriers in the UK. ( 22634896 )
2012
24
Human umbilical cord blood-derived mononuclear cell transplantation: case series of 30 subjects with hereditary ataxia. ( 21575250 )
2011
25
New aspects of hereditary ataxia in smooth-haired fox terriers. ( 20435980 )
2010
26
Longitudinal cerebral blood flow changes during speech in hereditary ataxia. ( 20417959 )
2010
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
Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study. ( 19339254 )
2009
30
Suppression of saccadic intrusions in hereditary ataxia by memantine. ( 18316692 )
2008
31
Cognition in hereditary ataxia. ( 17786824 )
2007
32
Hereditary ataxia SCAN1 cells are defective for the repair of transcription-dependent topoisomerase I cleavage complexes. ( 16935573 )
2006
33
Hereditary ataxia, spastic paraparesis and neuropathy in the French-Canadian population. ( 16736723 )
2006
34
Mapping cerebral blood flow during speech production in hereditary ataxia. ( 16443374 )
2006
35
Hereditary ataxia and behavior. ( 16383226 )
2005
36
[SCA-7. Cone-rod dystrophy in the context of an hereditary ataxia]. ( 16311960 )
2005
37
Impact of presymptomatic genetic testing for hereditary ataxia and neuromuscular disorders: where is the evidence? ( 15642867 )
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. ( 15210524 )
2004
40
Hereditary ataxia in the Jack Russell Terrier--clinical and genetic investigations. ( 15320590 )
2004
41
Olfactory dysfunction in hereditary ataxia and basal ganglia disorders. ( 12876469 )
2003
42
A line of Berlin Druckrey IV rats proposed as a new model for human hereditary ataxia. ( 12224135 )
2002
43
Non-expanded polyglutamine proteins in intranuclear inclusions of hereditary ataxias--triple-labeling immunofluorescence study. ( 11563629 )
2001
44
Hereditary ataxia. Finding balance. ( 11784585 )
2001
45
Hereditary ataxia. An unfolded protein. ( 11784584 )
2001
46
Hereditary spastic paraplegia and hereditary ataxia, Part 2: A family demonstrating various phenotypic manifestations with the SCA3 genotype. ( 10815141 )
2000
47
[Distribution of dominant hereditary ataxias and Friedreich's ataxia in the Spanish population]. ( 10996881 )
2000
48
The hereditary ataxias. ( 9630233 )
1998
49
Genes involved in hereditary ataxias. ( 9735950 )
1998
50
The genetic basis of hereditary ataxia. ( 9193167 )
1997

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:

id 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:

id Name GO ID Score Top Affiliating Genes
1 nucleolus GO:0005730 9.72 ATXN1 ATXN3 ATXN7 TOP1 TSEN54
2 mitochondrial membrane GO:0031966 9.43 AFG3L2 ATXN3 SPG7
3 nuclear inclusion body GO:0042405 9.16 ATXN1 ATXN3
4 m-AAA complex GO:0005745 8.96 AFG3L2 SPG7
5 nuclear matrix GO:0016363 8.92 ATN1 ATXN1 ATXN3 ATXN7

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

id Name GO ID Score Top Affiliating Genes
1 adult walking behavior GO:0007628 9.16 CACNA1A FXN
2 mitochondrial calcium ion transport GO:0006851 8.96 AFG3L2 SPG7
3 mitochondrion organization GO:0007005 8.92 AFG3L2 FXN SPG7 TWNK

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

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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