SCA
MCID: HRD026
MIFTS: 51

Hereditary Ataxia (SCA)

Categories: Eye diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Hereditary Ataxia

MalaCards integrated aliases for Hereditary Ataxia:

Name: Hereditary Ataxia 11 24 19 75 28 5 14 36 16 31 33
Sca 19 75
Spinocerebellar Ataxia 19
Ataxias, Hereditary 71
Ataxias Hereditary 53

Classifications:



External Ids:

Disease Ontology 11 DOID:0050951
ICD10 31 G11 G11.9
UMLS 71 C0004138

Summaries for Hereditary Ataxia

Disease Ontology: 11 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 sca, is related to x-linked hereditary ataxia and spinocerebellar ataxia, autosomal recessive 4. An important gene associated with Hereditary Ataxia is KCND3 (Potassium Voltage-Gated Channel Subfamily D Member 3), and among its related pathways/superpathways are Akt Signaling and Dopamine-DARPP32 Feedback onto cAMP Pathway. The drugs Riluzole and Lithium carbonate have been mentioned in the context of this disorder. Affiliated tissues include Umbilical Cord, cerebellum and eye, and related phenotypes are nervous system and homeostasis/metabolism

Wikipedia: 75 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 in the Rare Ataxia family:

Hereditary Ataxia Rare Hereditary Ataxia
Acquired Ataxia

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

(show top 50) (show all 844)
# Related Disease Score Top Affiliating Genes
1 x-linked hereditary ataxia 32.7 PPP2R2B FXN ATXN8OS ATXN7 ATXN2 ATXN10
2 spinocerebellar ataxia, autosomal recessive 4 32.3 PPP2R2B KCND3 KCNC3 ITPR1 CACNA1A ATXN7
3 mitochondrial complex iii deficiency, nuclear type 2 32.2 SACS FXN ATXN7
4 x-linked cerebellar ataxia 32.1 TMEM240 SPTBN2 FGF14 ATXN10
5 fragile x-associated tremor/ataxia syndrome 32.1 PPP2R2B FXN CACNA1A ATXN8OS ATXN7 ATXN2
6 spinocerebellar ataxia, x-linked 5 32.0 TMEM240 FGF14
7 episodic ataxia, type 8 32.0 FGF14 CACNA1A
8 spastic ataxia 31.9 TTBK2 SPTBN2 SACS PRKCG PPP2R2B KCND3
9 episodic ataxia 31.8 TTBK2 TBP SPTBN2 PRKCG PPP2R2B KCND3
10 amyotrophic lateral sclerosis 1 31.5 TBP KCND3 ITPR1 FXN CACNA1A ATXN7
11 choreatic disease 31.4 TBP PPP2R2B FXN CACNA1A ATXN7 ATXN3
12 aceruloplasminemia 31.4 SPTBN2 PRKCG FXN CACNA1A
13 hereditary spastic paraplegia 31.3 SPTBN2 SACS ITPR1 FXN CACNA1A ATXN7
14 friedreich ataxia 31.2 TBP SPTBN2 PRKCG PPP2R2B KCNC3 FXN
15 restless legs syndrome 31.2 TBP CACNA1A ATXN7 ATXN3 ATXN2 ATXN1
16 spinocerebellar ataxia 2 31.2 CACNA1A ATXN8OS ATXN7 ATXN3 ATXN2 ATXN10
17 myotonic dystrophy 1 31.2 PPP2R2B FXN ATXN8OS ATXN7 ATXN3 ATXN2
18 primary cerebellar degeneration 31.1 CACNA1A ATXN3 ATXN2 ATXN1
19 autosomal dominant cerebellar ataxia 31.1 TTBK2 TMEM240 TBP SPTBN2 SACS PRKCG
20 spinocerebellar ataxia 7 31.1 ATXN8OS ATXN7 ATXN3 ATXN2 ATXN1
21 spinocerebellar ataxia 1 31.1 TBP SPTBN2 PRKCG PPP2R2B KCNC3 ITPR1
22 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 31.1 SACS FXN CACNA1A ATXN7
23 autosomal recessive cerebellar ataxia 31.0 SPTBN2 SACS FXN CACNA1A ATXN7 ATXN10
24 spinocerebellar ataxia 4 31.0 SPTBN2 ATXN7 ATXN2 ATXN1
25 cerebellar ataxia type 48 31.0 TMEM240 TBP SPTBN2 PRKCG KCND3 CACNA1A
26 machado-joseph disease 31.0 TBP SPTBN2 PRKCG PPP2R2B KCNC3 FXN
27 mitochondrial dna depletion syndrome 7 31.0 SPTBN2 SACS FXN
28 dystonia 12 30.9 TTBK2 CACNA1A ATXN1 ATN1
29 spinocerebellar ataxia type 19/22 30.9 KCND3 KCNC3 FGF14
30 spinal and bulbar muscular atrophy, x-linked 1 30.9 TBP PPP2R2B KCNC3 FXN CACNA1A ATXN7
31 cerebellar ataxia type 42 30.9 PRKCG ITPR1 ATXN7
32 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 30.9 SACS FXN CACNA1A ATXN7 ATXN1
33 spinocerebellar ataxia 17 30.9 TBP PPP2R2B FGF14 CACNA1A ATXN8OS ATXN7
34 spinocerebellar ataxia 6 30.8 TBP SPTBN2 PRKCG PPP2R2B KCNC3 FXN
35 olivopontocerebellar atrophy 30.8 TBP SPTBN2 PPP2R2B CACNA1A ATXN7 ATXN2
36 spinocerebellar ataxia 8 30.8 PPP2R2B CACNA1A ATXN8OS ATXN7 ATXN3 ATXN2
37 ocular motility disease 30.8 CACNA1A ATXN7 ATXN3
38 lichtenstein-knorr syndrome 30.8 SACS FXN
39 spastic paraplegia 8, autosomal dominant 30.8 TTBK2 SPTBN2 KCNC3
40 dementia 30.8 PPP2R2B ATXN3 ATXN2 ATXN1 ATN1
41 spastic paraplegia 41, autosomal dominant 30.8 SPTBN2 KCND3
42 cerebral palsy, ataxic, autosomal recessive 30.7 SPTBN2 KCNC3 ITPR1
43 spinocerebellar ataxia 37 30.7 ATXN8OS ATXN10
44 familial adult myoclonic epilepsy 30.7 FXN CACNA1A ATXN8OS ATXN7 ATXN10 ATN1
45 3-methylglutaconic aciduria, type iii 30.6 SACS FXN ATXN7 ATN1
46 spinocerebellar ataxia 36 30.6 PPP2R2B ATXN8OS ATXN2 ATXN10
47 spinocerebellar ataxia 18 30.6 TMEM240 CACNA1A ATXN1
48 spinocerebellar ataxia, autosomal recessive 17 30.6 SPTBN2 PRKCG KCND3 KCNC3 CACNA1A
49 spinocerebellar ataxia 35 30.6 TTBK2 ATXN10 ATN1
50 episodic ataxia, type 1 30.6 KCND3 KCNC3 FGF14 CACNA1A

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.2 ATN1 ATXN1 ATXN2 ATXN3 ATXN7 CACNA1A
2 homeostasis/metabolism MP:0005376 10 ATN1 ATXN1 ATXN10 ATXN2 ATXN3 CACNA1A
3 behavior/neurological MP:0005386 9.89 ATN1 ATXN1 ATXN2 ATXN3 ATXN7 CACNA1A
4 muscle MP:0005369 9.86 ATXN1 ATXN7 CACNA1A FGF14 FXN ITPR1
5 skeleton MP:0005390 9.28 ATXN1 ATXN10 ATXN7 FGF14 KCNC3 KCND3

Drugs & Therapeutics for Hereditary Ataxia

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

(show all 35)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Riluzole Approved, Investigational Phase 3 1744-22-5 5070
2
Lithium carbonate Approved Phase 2, Phase 3 554-13-2
3
Glutamic acid Approved, Nutraceutical Phase 3 56-86-0 33032
4 Neurotransmitter Agents Phase 3
5 Neuroprotective Agents Phase 3
6 Excitatory Amino Acid Antagonists Phase 3
7 Anticonvulsants Phase 3
8 Protective Agents Phase 3
9 Psychotropic Drugs Phase 2, Phase 3
10 Antidepressive Agents Phase 2, Phase 3
11
Varenicline Approved, Investigational Phase 2 249296-44-4 5310966
12
Menthol Approved, Experimental Phase 2 1490-04-6, 2216-51-5, 15356-60-2 1254 16666 165675
13 Calcium, Dietary Phase 2
14 Nicotinic Agonists Phase 2
15 Cholinergic Agents Phase 2
16 Immunoglobulins, Intravenous Phase 2
17 Immunoglobulins Phase 2
18 Antibodies Phase 2
19 gamma-Globulins Phase 2
20 Rho(D) Immune Globulin Phase 2
21
Calcium Nutraceutical Phase 2 7440-70-2 271
22
Ubidecarenone Approved, Investigational, Nutraceutical Phase 1 303-98-0 5281915
23 Vitamins Phase 1
24 Trace Elements Phase 1
25 Ubiquinone Phase 1
26 Micronutrients Phase 1
27
Dopamine Approved 62-31-7, 51-61-6 681
28
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
29
Tannic acid Approved 1401-55-4 16129878 16129778
30
Triamcinolone Approved, Vet_approved 124-94-7 31307
31 Dopamine agonists
32 Omega 3 Fatty Acid
33
Triamcinolone hexacetonide
34
Triamcinolone diacetate
35
Triamcinolone Acetonide 6436

Interventional clinical trials:

(show top 50) (show all 62)
# Name Status NCT ID Phase Drugs
1 Riluzole in Patients With Spinocerebellar Ataxia Type 7: a Randomized , Double-blind, Placebo-controlled Pilot Trial With a Lead in Phase Unknown status NCT03660917 Phase 2, Phase 3 Riluzole;Placebo
2 Multicenter, Randomized, Double Blind, Placebo Controlled Clinical Trial With Riluzole in Spinocerebellar Ataxia Type 2 Completed NCT03347344 Phase 3 Riluzole;Placebo
3 Randomized Clinical Trial to Assess the Safety and Efficacy of Lithium Carbonate in Patients With Spinocerebellar Ataxia Type 3 Completed NCT01096082 Phase 2, Phase 3 Lithium Carbonate;Placebo
4 A Double-blind, Randomized, Placebo Controlled, Trial to Assess Safety and Efficacy of SLS-005 (Trehalose Injection, 90.5 mg/mL for Intravenous Infusion) for the Treatment of Adults With Spinocerebellar Ataxia Recruiting NCT05490563 Phase 2, Phase 3 SLS-005;Placebo
5 A Phase III, Long-Term, Randomized, Double-blind, Placebo-controlled Trial of Troriluzole in Adult Subjects With Spinocerebellar Ataxia. Active, not recruiting NCT03701399 Phase 3 troriluzole;Placebos
6 A Phase IIb/III, Randomized, Double-blind, Placebo-controlled Trial of Troriluzole in Adult Subjects With Spinocerebellar Ataxia Active, not recruiting NCT02960893 Phase 2, Phase 3 Troriluzole;Placebo
7 An Open Pilot Trial of BHV-4157 in Adult Subjects With Cerebellar Ataxia Active, not recruiting NCT03408080 Phase 3 BHV-4157
8 Phase I/II Study of Umbilical Cord Mesenchymal Stem Cell Therapy for Patients With Hereditary Ataxia Unknown status NCT01360164 Phase 1, Phase 2
9 Phase 2 Study of Riluzole Effects on Patients With Chronic Cerebellar Ataxia Completed NCT00202397 Phase 2 Riluzole
10 The Influence of Deep Repetitive Transcranial Magnetic Stimulation (TMS) on Cerebellar Signs in Patients With Spinocerebellar Ataxia Type 3 (SCA3 - Machado Joseph Disease) Completed NCT02039206 Phase 2
11 A Phase II, Randomized, Double-Blind, Placebo-Controlled, Single-Center Study to Evaluate the Safety and Efficacy of Stemchymal® Infusion for the Treatment of Polyglutamine Spinocerebellar Ataxia Completed NCT02540655 Phase 2
12 Randomized, Placebo-controlled Trial to Test Safety, Tolerability and Efficacy of Lithium Carbonate in Spinocerebellar Ataxia 2 Completed NCT00998634 Phase 2 LITHIUM CARBONATE
13 A Pilot, Randomized, Double-blind, Placebo-controlled Phase I Study to Determine the Safety and Tolerability of Varenicline (Chantix®) in Treating Spinocerebellar Ataxia Type 3 Completed NCT00992771 Phase 2 varenicline;placebo
14 Safety and Efficacy of Intravenous Immune Globulin in Treating Spinocerebellar Ataxia Completed NCT01350440 Phase 2
15 A Single-Center, Randomized, Double-Blind, Parallel-Group, Dose-Controlled Study, to Assess Safety, Tolerability and Efficacy of Intravenous Cabaletta® in Patients With Machado-Joseph Disease Completed NCT02147886 Phase 2 Cabaletta for IV infusion once weekly during 24 weeks
16 Chinese Medicine WT for Elevating IGF-1 of Patients With Spinocerebellar Ataxia Type 3 - Pilot Study Recruiting NCT05038306 Phase 2 Chinese medicine WT
17 A Clinical Research on the Safety/Efficacy of Umbilical Cord Mesenchymal Stem Cells Therapy for Patients With Spinocerebellar Ataxia Not yet recruiting NCT03378414 Phase 2
18 Phase 2 Randomized, Double-blind, Placebo-controlled Study to Evaluate the Safety, Tolerability, and Efficacy of CAD-1883 in Adults With Spinocerebellar Ataxia (Synchrony-1) Withdrawn NCT04301284 Phase 2 CAD-1883;Placebos
19 Phenylbutyrate in SCA3: a Double-blind, Placebo-controlled Study to Determine Safety and Efficacy of Sodium Phenylbutyrate in Patients With SCA3 Withdrawn NCT01096095 Phase 2 Placebo;Sodium Phenylbutyrate
20 Pilot Study of Tolerability of Lithium Therapy in Patients With Spinocerebellar Ataxia Type I (SCA1) Completed NCT00683943 Phase 1 Lithium Carbonate
21 Safety and Tolerability of Coenzyme Q10 in Adult-Onset Sporadic Spinocerebellar Ataxia Completed NCT00957216 Phase 1 Placebo (sugar pill);Coenzyme Q10
22 A Phase 1, Blinded, Randomized, Placebo-controlled Study to Investigate the Safety, Tolerability, and Pharmacokinetics of Multiple Ascending Doses of BIIB132 Administered Intrathecally to Adults With Spinocerebellar Ataxia 3 Recruiting NCT05160558 Phase 1 BIIB132;BIIB132-Matching Placebo
23 Natural History of Oculomotor Neurophysiology in Ataxic and Pre-ataxic Carriers of Machado-Joseph Disease/Spinocerebellar Ataxia Type 3 (SCA3/MJD) Unknown status NCT04229823
24 Biomarkers and Genetic Modifiers in a Study of Pre-ataxic and Ataxic SCA3/MJD Carriers (BIGPRO Study) - Astrocytes Unknown status NCT04419974
25 Slowing Down Disease Progression in Premanifest SCA: a Piloting Interventional Exergame Trial Unknown status NCT02867969
26 Machado-Joseph Disease in Israel: Clinical Phenotype and Genotype of a Jew Yemenite Subpopulation Unknown status NCT02175290
27 Pathogenic Mechanism of Spinocerebellar Ataxia Type 10 (SCA10) Completed NCT00004306
28 Cerebello-Spinal tDCS as Rehabilitative Intervention in Neurodegenerative Ataxias: a Randomized, Double-blind, Sham-controlled Trial Followed by an Open-label Phase Completed NCT04153110
29 Rehabilitative Trial With Cerebello-Spinal tDCS for the Treatment of Neurodegenerative Ataxia Completed NCT03120013
30 Identification of Biomarkers in Patients With Autosomal Dominant Cerebellar Ataxia Completed NCT01470729
31 Characterization of the Parkinsonism and Other Non-ataxia Spectrum and Striatal Dopaminergic Degeneration in Spinocerebellar Ataxia Type 6 Completed NCT01934998
32 Neuromuscular Electrical Stimulation on Median Nerve Facilitates Low Motor Cortex Excitability in Human With Spinocerebellar Ataxia Completed NCT02103075
33 Integrative Medicine and Tai-chi in Clinical Status of Spinocerebellar Ataxia Completed NCT03687190 conventional medicine
34 Translating Molecular Pathology Into a Therapeutic Strategy in SCA38, a Newly Identified Form of Spinocerebellar Ataxia Completed NCT03109626
35 Clinical Effects of Oral Trehalose In Patients With Spinocerebellar Ataxia 3: A Pilot Study Completed NCT04426149
36 Prospective Study of Individuals at Risk for Spinocerebellar Ataxia Type 1, Type 2, Type 3, Type 6 and Type 7 (SCA1, SCA2, SCA3, SCA6, SCA7) Completed NCT01037777
37 A Prospective, Randomized, Controlled Trial for the Efficacy of Repetitive Transcranial Magnetic Stimulation in Spinocerebellar Ataxia Type 3 Completed NCT05502432
38 The Effect of Whole Body Vibration Training on Neuromuscular Property in Individuals With Ataxia Completed NCT01983631
39 Transcranial Magnetic Stimulation (TMS) in Spino-Cerebellar Ataxia Completed NCT01975909
40 Utility Of Home Based Gait Monitoring, Performance Scores And Functional Visual Assessment In Spinocerebellar Ataxias (SCA) Completed NCT00654251
41 Dysmetria in Motor Function in SCA: Mechanisms and Rehabilitation Completed NCT02488031
42 Preliminary Study of the Scale To Assess Ataxia and Neurologic Dysfunction (STAND) Completed NCT02179333
43 Coordination Training With Complete Body Video Games in Children and Adults With Degenerative Ataxias Completed NCT02874911
44 Neuroimaging Changes in Hereditary Ataxia Recruiting NCT05160883
45 Genotype-phenotype Correlation and Pathogenic Mechanism in Hereditary Ataxia Recruiting NCT05160870
46 The Effectiveness of Core Stability Exercises to Improve Balance and Gait in Hereditary Ataxias. Pilot Study Recruiting NCT04750850
47 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
48 APDM Instrumented Data Exchange for Ataxia (IDEA) Study Recruiting NCT04268147
49 Clinical Research Consortium for Spinocerebellar Ataxias (CRC-SCA) to Study Natural History Study of and Genetic Modifiers in Spinocerebellar Ataxias (SCA) Recruiting NCT01060371
50 Neuropsychiatry and Cognition in the Context of Spinocerebellar Ataxia Type 3/Machado-Joseph Disease (SCA3/MJD) Recruiting NCT04714307

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 KCND3

Anatomical Context for Hereditary Ataxia

Organs/tissues related to Hereditary Ataxia:

MalaCards : Cerebellum, Eye, Cortex, Brain, Spinal Cord, Globus Pallidus, Bone Marrow
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 4776)
# Title Authors PMID Year
1
Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families. 53 62 24
15148151 2004
2
Spinocerebellar Ataxia type 29 in a family of Māori descent. 62 24
31632679 2019
3
Comprehensive systematic review summary: Treatment of cerebellar motor dysfunction and ataxia: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology. 62 24
29440566 2018
4
Clinical application of next generation sequencing in hereditary spinocerebellar ataxia: increasing the diagnostic yield and broadening the ataxia-spasticity spectrum. A retrospective analysis. 62 24
29209898 2018
5
EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood. 62 24
24418350 2014
6
Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond. 62 24
20723845 2010
7
Novel mutations in the sacsin gene in ataxia patients from Maritime Canada. 5
19892370 2010
8
Scale for the assessment and rating of ataxia: development of a new clinical scale. 62 24
16769946 2006
9
Frequency analysis of autosomal dominant spinocerebellar ataxias in mainland Chinese patients and clinical and molecular characterization of spinocerebellar ataxia type 6. 62 24
15989765 2005
10
Prevalence of inherited ataxias in the province of Padua, Italy. 62 24
15297793 2004
11
Difference in disease-free survival curve and regional distribution according to subtype of spinocerebellar ataxia: a study of 1,286 Japanese patients. 62 24
12116198 2002
12
Trinucleotide repeats in 202 families with ataxia: a small expanded (CAG)n allele at the SCA17 locus. 62 24
11939898 2002
13
Frequency of spinocerebellar ataxia types 1, 2, 3, 6, and 7 in Australian patients with spinocerebellar ataxia. 62 24
11186889 2000
14
Frequency of SCA1, SCA2, SCA3/MJD, SCA6, SCA7, and DRPLA CAG trinucleotide repeat expansion in patients with hereditary spinocerebellar ataxia from Chinese kindreds. 62 24
10768629 2000
15
Incidence of dominant spinocerebellar and Friedreich triplet repeats among 361 ataxia families. 62 24
9855520 1998
16
Autosomal dominant cerebellar ataxia: phenotypic differences in genetically defined subtypes? 62 24
9403486 1997
17
Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia. 24
30926972 2019
18
The cerebellar cognitive affective/Schmahmann syndrome scale. 24
29206893 2018
19
Parental influence on human germline de novo mutations in 1,548 trios from Iceland. 24
28959963 2017
20
Successful neuropsychological rehabilitation in a patient with Cerebellar Cognitive Affective Syndrome. 24
27049666 2017
21
Overcoming the divide between ataxias and spastic paraplegias: Shared phenotypes, genes, and pathways. 24
28195350 2017
22
Vitamin E and oxidative stress in abetalipoproteinemia and familial hypobetalipoproteinemia. 24
26086616 2015
23
Therapies for ataxias. 24
24832479 2014
24
Hypergonadotropic hypogonadism in spinocerebellar ataxia type 2: a case report. 53 62
19473475 2009
25
Multiplex families with multiple system atrophy. 53 62
17420317 2007
26
Repeat-induced epigenetic changes in intron 1 of the frataxin gene and its consequences in Friedreich ataxia. 53 62
17478498 2007
27
Late-onset Friedreich ataxia: phenotypic analysis, magnetic resonance imaging findings, and review of the literature. 53 62
16344344 2005
28
Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis. 24
15099544 2004
29
Regional features of autosomal-dominant cerebellar ataxia in Nagano: clinical and molecular genetic analysis of 86 families. 24
15480876 2004
30
Expression of K(Ca) channels in identified populations of developing vertebrate neurons: role of neurotrophic factors and activity. 24
14706690 2003
31
Identification of a novel candidate gene in the iron-sulfur pathway implicated in ataxia-susceptibility: human gene encoding HscB, a J-type co-chaperone. 53 62
12938016 2003
32
Up-regulation of c-Jun N-terminal kinase pathway in Friedreich's ataxia cells. 53 62
12393810 2002
33
Spinocerebellar ataxias in the Netherlands: prevalence and age at onset variance analysis. 24
11889231 2002
34
Evidence for a common Spinocerebellar ataxia type 7 (SCA7) founder mutation in Scandinavia. 53 62
11175279 2000
35
Molecular analysis of autosomal dominant hereditary ataxias in the Indian population: high frequency of SCA2 and evidence for a common founder mutation. 24
10746559 2000
36
Cell-based therapeutic strategies for treatment of spinocerebellar ataxias: an update. 62
36453395 2023
37
Acute frataxin knockdown in induced pluripotent stem cell-derived cardiomyocytes activates a type I interferon response. 62
36107856 2023
38
A small molecule binding to TGGAA pentanucleotide repeats that cause spinocerebellar ataxia type 31. 62
36414174 2023
39
ELOVL4 mutations that cause spinocerebellar ataxia-34 differentially alter very long chain fatty acid biosynthesis. 62
36464075 2022
40
First report on spinocerebellar ataxia type 3 (Machado-Joseph disease) in Poland. 62
36334556 2022
41
Recurrent divergence-insufficiency esotropia in Machado-Joseph disease (spinocerebellar ataxia type 3). 62
36407010 2022
42
A Young Japanese Patient with Spinocerebellar Ataxia Type 3 Presenting Depressive State with Cenesthopathy and Delusion: a Case Report. 62
34705199 2022
43
Comorbidities in Friedreich ataxia: incidence and manifestations from early to advanced disease stages. 62
36053339 2022
44
Clinical, neuroimaging and genetic findings in children with hereditary ataxia: single center study. 62
36462087 2022
45
Expansion of the phenotypic and molecular spectrum of CWF19L1-related disorder. 62
36453471 2022
46
Small-Expanded Allele Spinocerebellar Ataxia Type 17 Leading to Broad Movement Disorder Phenotype in a Brazilian Patient. 62
34738227 2022
47
Ataxia with oculomotor apraxia type 1 associated with mutation in the APTX gene: A case study and literature review. 62
36382100 2022
48
Toward the design and development of peptidomimetic inhibitors of the Ataxin-1 aggregation pathway. 62
36262042 2022
49
Neuro-respiratory pathology in spinocerebellar ataxia. 62
36410186 2022
50
Pre-ataxic loss of intrinsic plasticity and motor learning in a mouse model of SCA1. 62
36352508 2022

Variations for Hereditary Ataxia

ClinVar genetic disease variations for Hereditary Ataxia:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PRKCG NM_002739.5(PRKCG):c.1926C>G (p.Asn642Lys) SNV Likely Pathogenic
1283911 GRCh37: 19:54409981-54409981
GRCh38: 19:53906727-53906727
2 SACS NM_014363.6(SACS):c.814C>T (p.Arg272Cys) SNV Likely Pathogenic
504884 rs374128662 GRCh37: 13:23929937-23929937
GRCh38: 13:23355798-23355798

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
12.9 PRKCG PPP2R2B FGF14 ATXN7 ATXN3 ATXN2
2 11.46 PRKCG PPP2R2B KCND3 KCNC3 ITPR1 CACNA1A
3 10.45 PRKCG ITPR1 CACNA1A

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 cytoplasm GO:0005737 10.09 TTBK2 TBP SPTBN2 SACS PRKCG PPP2R2B
2 nuclear inclusion body GO:0042405 9.46 ATXN3 ATXN1
3 nuclear matrix GO:0016363 9.23 ATXN7 ATXN3 ATXN1 ATN1

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

# Name GO ID Score Top Affiliating Genes
1 monoatomic ion channel activity GO:0005216 8.92 KCND3 KCNC3 ITPR1 CACNA1A

Sources for Hereditary Ataxia

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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