SCA
MCID: HRD026
MIFTS: 44

Hereditary Ataxia (SCA) malady

Categories: Rare diseases, Neuronal diseases, Genetic diseases

Aliases & Classifications for Hereditary Ataxia

Aliases & Descriptions for Hereditary Ataxia:

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

Classifications:



External Ids:

ICD10 33 G11

Summaries for Hereditary Ataxia

MalaCards based summary : Hereditary Ataxia, also known as hereditary ataxias, is related to spinocerebellar ataxia, autosomal recessive 3 and x-linked hereditary ataxia. An important gene associated with Hereditary Ataxia is FXN (Frataxin), and among its related pathways/superpathways are Akt Signaling and Chks in Checkpoint Regulation. The drugs Riluzole and Neuroprotective Agents have been mentioned in the context of this disorder. Affiliated tissues include Umbilical Cord, testes and eye, and related phenotypes are behavior/neurological and growth/size/body region

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 242)
id Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia, autosomal recessive 3 29.0 ATN1 ATXN1 ATXN3 ATXN7 CACNA1A
2 x-linked hereditary ataxia 11.7
3 machado-joseph disease 11.2
4 spinocerebellar ataxia 7 11.0
5 autosomal dominant cerebellar ataxia 10.8
6 episodic ataxia 10.7
7 fragile x-associated tremor/ataxia syndrome 10.7
8 autosomal recessive cerebellar ataxia 10.7
9 ataxia 10.6
10 hereditary spastic paraplegia 10.5
11 ataxia-telangiectasia 10.3
12 friedreich ataxia 10.2
13 hypophosphatemic rickets with hypercalciuria 10.1 ATXN1 FXN
14 cystic echinococcosis 10.1 ATXN2 ATXN7
15 whiplash 10.1 ATXN1 ATXN2 ATXN3
16 osteopathia striata with cranial sclerosis 10.1 ATXN1 ATXN3 ATXN7
17 spasticity 10.0
18 adams-oliver syndrome 4 10.0 ATXN2 ATXN7
19 hypogonadotropic hypogonadism 3 with or without anosmia 10.0 ATXN2 PPP2R2B
20 spastic paraplegia 50, autosomal recessive 10.0 ATXN3 ATXN7 CACNA1A
21 cyprus facial neuromusculoskeletal syndrome 10.0 ATXN1 ATXN3
22 paraplegia 10.0
23 hypocalcemia, autosomal dominant 2 10.0 ATXN3 ATXN7 CACNA1A
24 lissencephaly 6, with microcephaly 10.0 ATXN3 ATXN7 CACNA1A
25 substance-induced psychosis 10.0 ATXN3 CACNA1A FXN
26 hemochromatosis, type 2a 10.0 ATXN2 ATXN3 TBP
27 epithelioid type angiomyolipoma 9.9 ATXN3 CACNA1A FXN
28 spastic paraplegia 9a, autosomal dominant 9.9
29 spastic paraplegia 44, autosomal recessive 9.8
30 spastic paraplegia 14, autosomal recessive 9.8
31 spastic paraplegia 25, autosomal recessive 9.8
32 spastic paraplegia 46, autosomal recessive 9.8
33 spastic paraplegia 19, autosomal dominant 9.8
34 spinocerebellar ataxia 27 9.8
35 spastic paraplegia 61, autosomal recessive 9.8
36 spastic paraplegia 43, autosomal recessive 9.8
37 spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia 9.8
38 hereditary spastic paraplegia 62 9.8
39 spastic paraplegia 4, autosomal dominant 9.8
40 spastic paraplegia 38, autosomal dominant 9.8
41 spinocerebellar ataxia 31 9.8
42 episodic ataxia, type 7 9.8
43 masa syndrome 9.8
44 spinocerebellar ataxia 25 9.8
45 spinocerebellar ataxia 17 9.8
46 spastic paraplegia 32, autosomal recessive 9.8
47 spastic paraplegia 12, autosomal dominant 9.8
48 hereditary spastic paraplegia 75 9.8
49 autosomal recessive cerebellar ataxia with late-onset spasticity 9.8
50 spastic paraplegia 31, autosomal dominant 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 9.97 ATN1 ATXN1 ATXN2 ATXN3 ATXN7 CACNA1A
2 growth/size/body region MP:0005378 9.92 ATN1 ATXN1 ATXN2 ATXN7 CACNA1A DSP
3 homeostasis/metabolism MP:0005376 9.86 ATN1 ATXN1 ATXN2 ATXN3 CACNA1A FXN
4 mortality/aging MP:0010768 9.76 ATXN2 ATXN7 CACNA1A DSP FXN TBP
5 muscle MP:0005369 9.35 ATXN1 ATXN7 CACNA1A DSP FXN
6 nervous system MP:0003631 9.28 FXN TBP ATN1 ATXN1 ATXN2 ATXN3

Drugs & Therapeutics for Hereditary Ataxia

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

(show top 50) (show all 52)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Riluzole Approved, Investigational Phase 2, Phase 3 1744-22-5 5070
2 Neuroprotective Agents Phase 2, Phase 3
3 Neurotransmitter Agents Phase 2, Phase 3
4 Heptavalent Pneumococcal Conjugate Vaccine Phase 3
5 Vaccines Phase 3
6 Excitatory Amino Acid Antagonists Phase 2, Phase 3
7 Excitatory Amino Acids Phase 2, Phase 3
8 Anticonvulsants Phase 2, Phase 3
9 Protective Agents Phase 2, Phase 3,Phase 1
10
Varenicline Approved, Investigational Phase 2 249296-44-4 5310966
11
Dantrolene Approved Phase 1, Phase 2 7261-97-4 2952 6914273
12 Ubiquinone Phase 2,Phase 1
13 Cholinergic Agents Phase 2
14 Nicotinic Agonists Phase 2
15 Trace Elements Phase 2,Phase 1
16 Immunoglobulins Phase 2
17 gamma-Globulins Phase 2
18 Immunoglobulins, Intravenous Phase 2
19 Rho(D) Immune Globulin Phase 2
20 Antibodies Phase 2
21 Micronutrients Phase 2,Phase 1
22 Calcium, Dietary Phase 2
23 Neuromuscular Agents Phase 1, Phase 2
24 Peripheral Nervous System Agents Phase 1, Phase 2
25 Idebenone Approved, Investigational Phase 1 58186-27-9
26 Lithium carbonate Phase 1 554-13-2
27 Tranquilizing Agents Phase 1
28 Antidepressive Agents Phase 1
29 Psychotropic Drugs Phase 1
30 Antimanic Agents Phase 1
31 Antioxidants Phase 1
32 Central Nervous System Depressants Phase 1
33
Dopamine Approved 51-61-6, 62-31-7 681
34
Secretin Approved, Investigational 108153-74-8
35
Pancrelipase Approved 53608-75-6
36
Vitamin A Approved, Nutraceutical, Vet_approved 11103-57-4, 68-26-8 445354
37
Vitamin E Approved, Nutraceutical, Vet_approved 59-02-9 14985
38 Dopamine agonists
39 Tocopherols
40 Tocotrienols
41 Dopamine Agents
42 Vitamins
43 Retinol palmitate
44 pancreatin
45 Gastrointestinal Agents
46 Hormone Antagonists
47 Hormones
48 Hormones, Hormone Substitutes, and Hormone Antagonists
49 Tocopherol Nutraceutical
50 Tocotrienol Nutraceutical

Interventional clinical trials:

(show all 30)
id Name Status NCT ID Phase
1 Efficacy of Riluzole in Hereditary Cerebellar Ataxia Completed NCT01104649 Phase 2, Phase 3
2 Conjugate Pneumococcal Vaccine in Ataxia Telangiectasia (AT) Completed NCT00656409 Phase 3
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
6 Study to Determine the Safety and Tolerability of Varenicline (Chantix®) in Treating Spinocerebellar Ataxia Type 3 Completed NCT00992771 Phase 2
7 High-Dose Intravenous Immunoglobulin to Treat Cerebellar Degeneration Completed NCT00034242 Phase 2
8 A Clinical Trial of Dantrolene Sodium in Pediatric and Adult Patients With Wolfram Syndrome Recruiting NCT02829268 Phase 1, Phase 2
9 EPI-743 for Mitochondrial Respiratory Chain Diseases Active, not recruiting NCT01370447 Phase 2
10 Safety Study of Idebenone to Treat Friedreich's Ataxia Completed NCT00015808 Phase 1
11 Lithium Treatment for Patients With Spinocerebellar Ataxia Type I Completed NCT00683943 Phase 1
12 Phase 1 Trial of Idebenone to Treat Patients With Friedreich's Ataxia Completed NCT00078481 Phase 1
13 RISCA : Prospective Study of Individuals at Risk for SCA1, SCA2, SCA3, SCA6, SCA7 Unknown status NCT01037777
14 The EUROSCA Natural History Study Unknown status NCT02440763
15 Clinical and Molecular Correlations in Spinocerebellar Ataxia Type 10 (SCA10) Completed NCT00004306
16 Neuromuscular Electrical Stimulation on Median Nerve Facilitates Low Motor Cortex Excitability in Human With Spinocerebellar Ataxia Completed NCT02103075
17 Parkinsonism in Spinocerebellar Ataxia Type 6 Completed NCT01934998
18 Emotional Communication Disorders in Cerebellar Disease Completed NCT02106819
19 Vitamin Replacement in Abetalipoproteinemia Completed NCT00004574
20 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
21 Phenotype/Genotype Correlations in Movement Disorders Recruiting NCT00018889
22 Study of Inherited Neurological Disorders Recruiting NCT00004568
23 Characterization of the Cardiac Phenotype of Friedreich's Ataxia (FRDA) Recruiting NCT02316314
24 A Study to Characterize the Cardiac Phenotype of Individuals With Friedreich's Ataxia (CARFA Study) Recruiting NCT02840669
25 Cancer in Inherited Bone Marrow Failure Syndromes Recruiting NCT00027274
26 The Cancer of the Pancreas Screening-5 CAPS5)Study Recruiting NCT02000089
27 Genetic Characterization of Movement Disorders and Dementias Recruiting NCT02014246
28 Wolfram Syndrome International Registry and Clinical Study Recruiting NCT02841553
29 Pancreatic Cancer Screening of High-Risk Individuals in Arkansas Active, not recruiting NCT02309632
30 Characterization of the Profile of Dysarthria in Huntington's Disease, Using the Clinical Evaluation Battery of Dysarthria Withdrawn NCT03142217

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
Testes, Eye, Brain, Bone, Tongue, Cerebellum
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 117)
id Title Authors Year
1
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
2
NGS-based molecular diagnosis of hereditary ataxia is cost-efficient: an illustrative family. ( 27261485 )
2016
3
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
4
Genetic analysis of ten common degenerative hereditary ataxia loci in patients with essential tremor. ( 26077168 )
2015
5
Treatment for dysphagia (swallowing difficulties) in hereditary ataxia. ( 26564018 )
2015
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
Canine hereditary ataxia in old english sheepdogs and gordon setters is associated with a defect in the autophagy gene encoding RAB24. ( 24516392 )
2014
8
Friedreich's ataxia and other hereditary ataxias in Greece: An 18-year perspective. ( 24209901 )
2014
9
The global epidemiology of hereditary ataxia and spastic paraplegia: what are the messages? ( 24603355 )
2014
10
Hereditary ataxia in Jack Russell terriers in the UK. ( 24736826 )
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
Treatment for speech disorder in Friedreich ataxia and other hereditary ataxia syndromes. ( 25348587 )
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
Hereditary ataxia and spastic paraplegia in Portugal: a population-based prevalence study. ( 23609960 )
2013
17
Progressive cerebellar atrophy: hereditary ataxias and disorders with spinocerebellar degeneration. ( 23622410 )
2013
18
Autosomal dominant hereditary ataxia in Sri Lanka. ( 23634774 )
2013
19
The reciprocal cerebellar circuitry in human hereditary ataxia. ( 23389921 )
2013
20
Hereditary ataxia in Jack Russell terriers in the UK. ( 22634896 )
2012
21
Hereditary ataxia, myokymia and neuromyotonia in Jack Russell terriers. ( 22872628 )
2012
22
Human umbilical cord blood-derived mononuclear cell transplantation: case series of 30 subjects with hereditary ataxia. ( 21575250 )
2011
23
Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28. ( 20208537 )
2010
24
Yet another gene mutation: dysfunction in mitochondrial protein quality control causing hereditary ataxia. ( 20738332 )
2010
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
Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study. ( 19339254 )
2009
28
Suppression of saccadic intrusions in hereditary ataxia by memantine. ( 18316692 )
2008
29
Cognition in hereditary ataxia. ( 17786824 )
2007
30
Hereditary ataxia SCAN1 cells are defective for the repair of transcription-dependent topoisomerase I cleavage complexes. ( 16935573 )
2006
31
Hereditary ataxia, spastic paraparesis and neuropathy in the French-Canadian population. ( 16736723 )
2006
32
Mapping cerebral blood flow during speech production in hereditary ataxia. ( 16443374 )
2006
33
Eyeblink conditioning in patients with hereditary ataxia: a one-year follow-up study. ( 15586270 )
2005
34
[SCA-7. Cone-rod dystrophy in the context of an hereditary ataxia]. ( 16311960 )
2005
35
Hereditary ataxia and behavior. ( 16383226 )
2005
36
Impact of presymptomatic genetic testing for hereditary ataxia and neuromuscular disorders: where is the evidence? ( 15642867 )
2005
37
Impact of presymptomatic genetic testing for hereditary ataxia and neuromuscular disorders. ( 15210524 )
2004
38
Hereditary ataxia in the Jack Russell Terrier--clinical and genetic investigations. ( 15320590 )
2004
39
Olfactory dysfunction in hereditary ataxia and basal ganglia disorders. ( 12876469 )
2003
40
A line of Berlin Druckrey IV rats proposed as a new model for human hereditary ataxia. ( 12224135 )
2002
41
Non-expanded polyglutamine proteins in intranuclear inclusions of hereditary ataxias--triple-labeling immunofluorescence study. ( 11563629 )
2001
42
Hereditary ataxia. An unfolded protein. ( 11784584 )
2001
43
Hereditary ataxia. Finding balance. ( 11784585 )
2001
44
[Distribution of dominant hereditary ataxias and Friedreich's ataxia in the Spanish population]. ( 10996881 )
2000
45
Hereditary spastic paraplegia and hereditary ataxia, Part 2: A family demonstrating various phenotypic manifestations with the SCA3 genotype. ( 10815141 )
2000
46
Genes involved in hereditary ataxias. ( 9735950 )
1998
47
The hereditary ataxias. ( 9630233 )
1998
48
Hereditary ataxia with sensory neuronopathy: Biemond's ataxia. ( 9008534 )
1997
49
The genetic basis of hereditary ataxia. ( 9193167 )
1997
50
Cerebellar grafts partially reverse amino acid receptor changes observed in the cerebellum of mice with hereditary ataxia: quantitative autoradiographic studies. ( 9171167 )
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
12.5 ATXN1 ATXN2 ATXN3 ATXN7 PPP2R2B
2
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 cytoplasm GO:0005737 9.65 ATN1 ATXN1 ATXN2 ATXN3 ATXN7 CACNA1A
2 nuclear inclusion body GO:0042405 9.16 ATXN1 ATXN3
3 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 microtubule cytoskeleton organization GO:0000226 9.16 ATXN3 ATXN7
2 adult walking behavior GO:0007628 8.96 CACNA1A FXN
3 intermediate filament cytoskeleton organization GO:0045104 8.62 ATXN3 DSP

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 9.32 ATN1 ATXN1 ATXN2 ATXN3 ATXN7 CACNA1A

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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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