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 12 74 24 52 29 6 15 37 17 32
Ataxias, Hereditary 71
Ataxias Hereditary 54

Classifications:



External Ids:

Disease Ontology 12 DOID:0050951
ICD10 32 G11 G11.9
UMLS 71 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 x-linked hereditary ataxia and machado-joseph disease. 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 Resveratrol have been mentioned in the context of this disorder. Affiliated tissues include Umbilical Cord, eye and cerebellum, and related phenotypes are Decreased viability and Decreased viability

Wikipedia : 74 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 346)
# Related Disease Score Top Affiliating Genes
1 x-linked hereditary ataxia 34.5 PPP2R2B FXN ATXN3 ATXN10
2 machado-joseph disease 33.5 TBP CACNA1A ATXN7 ATXN3 ATXN2 ATXN1
3 spastic ataxia 33.4 SACS CACNA1A AFG3L2
4 episodic ataxia 32.7 SPTBN2 PRKCG PPP2R2B KCNC3 KCNA1 CACNA1A
5 autosomal recessive cerebellar ataxia 32.6 TDP1 SPTBN2 SETX SACS FXN CACNA1A
6 fragile x-associated tremor/ataxia syndrome 32.5 PPP2R2B FXN ATXN3 ATXN10
7 autosomal dominant cerebellar ataxia 32.5 TDP1 TBP SPTBN2 SETX SACS PRKCG
8 spinocerebellar ataxia 7 32.1 ATXN7 ATXN3 ATXN2 ATXN1
9 hereditary spastic paraplegia 32.1 SETX SACS ATXN3 ATXN2 AFG3L2
10 friedreich ataxia 32.1 SETX FXN CACNA1A ATXN3 ATXN2 ATXN1
11 spinocerebellar ataxia 31 32.0 CACNA1A ATXN3 ATXN10
12 spinocerebellar ataxia 1 32.0 PRKCG FXN CACNA1A ATXN7 ATXN3 ATXN2
13 spinocerebellar ataxia 36 32.0 PPP2R2B ATXN2 ATXN10
14 episodic ataxia, type 6 32.0 SPTBN2 KCNC3 ATXN7
15 spastic ataxia, charlevoix-saguenay type 31.9 SETX SACS APTX
16 episodic ataxia, type 1 31.9 KCNC3 KCNA1 CACNA1A
17 spinocerebellar ataxia 10 31.9 PPP2R2B ATXN3 ATXN10
18 spinocerebellar ataxia 2 31.9 SETX CACNA1A ATXN7 ATXN3 ATXN2 ATXN10
19 dentatorubral-pallidoluysian atrophy 31.9 TBP PPP2R2B CACNA1A ATXN7 ATXN3 ATXN2
20 spinocerebellar ataxia 17 31.9 TBP PPP2R2B CACNA1A ATXN7 ATXN3 ATXN2
21 spinocerebellar ataxia 8 31.9 PPP2R2B ATXN7 ATXN3 ATXN2 ATXN10
22 vitamin e, familial isolated deficiency of 31.9 SETX SACS FXN APTX
23 mitochondrial dna depletion syndrome 7 31.8 SACS FXN APTX
24 episodic ataxia, type 2 31.8 SPTBN2 PRKCG KCNC3 KCNA1 CACNA1A ATXN3
25 spinocerebellar ataxia 15 31.8 SPTBN2 PRKCG KCNC3 ATXN10
26 spinocerebellar ataxia 21 31.8 SPTBN2 KCNC3 AFG3L2
27 spinocerebellar ataxia 14 31.8 PRKCG CACNA1A APTX
28 spinocerebellar ataxia 27 31.8 SPTBN2 CACNA1A
29 spinocerebellar ataxia 6 31.7 PRKCG PPP2R2B KCNA1 CACNA1A ATXN7 ATXN3
30 spinocerebellar ataxia 29 31.7 SETX FXN ATXN3 ATXN2 ATXN1 AFG3L2
31 spinocerebellar ataxia type 1 with axonal neuropathy 31.7 TDP1 SETX ATM APTX
32 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 31.7 TDP1 SPTBN2 SETX SACS FXN CACNA1A
33 spinocerebellar ataxia 13 31.7 SPTBN2 PRKCG KCNC3 KCNA1
34 spinocerebellar ataxia 12 31.6 TBP PPP2R2B CACNA1A ATXN7 ATXN3 ATXN2
35 spinocerebellar ataxia 23 31.6 SPTBN2 KCNC3
36 spinocerebellar ataxia 38 31.4 SACS CACNA1A ATXN3
37 spinocerebellar ataxia 18 31.4 SPTBN2 ATXN7 AFG3L2
38 hereditary episodic ataxia 31.4 KCNA1 CACNA1A
39 spastic paraplegia 7, autosomal recessive 31.4 SACS AFG3L2
40 cerebellar degeneration 31.3 CACNA1A ATM
41 episodic ataxia, type 7 31.3 KCNA1 CACNA1A
42 aceruloplasminemia 31.2 TBP SPTBN2 SETX SACS PRKCG PPP2R2B
43 spastic paraplegia 75, autosomal recessive 31.2 TDP1 SETX SACS FXN APTX AFG3L2
44 apraxia 31.2 SETX ATM APTX
45 oculomotor apraxia 31.1 SETX ATM APTX
46 marinesco-sjogren syndrome 31.1 SPTBN2 KCNC3 APTX
47 coenzyme q10 deficiency, primary, 4 30.8 SETX APTX
48 huntington disease 30.7 TBP ATXN7 ATXN3 ATXN1 ATN1
49 peripheral nervous system disease 30.6 TDP1 SACS FXN ATXN3 APTX
50 primary cerebellar degeneration 30.5 TDP1 CACNA1A ATXN3 ATXN2 ATXN1

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:

26 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00107-A-1 10.17 PRKCG
2 Decreased viability GR00221-A-1 10.17 FXN PRKCG
3 Decreased viability GR00221-A-2 10.17 PRKCG
4 Decreased viability GR00221-A-3 10.17 ATM PRKCG
5 Decreased viability GR00221-A-4 10.17 ATM
6 Decreased viability GR00240-S-1 10.17 KCNC3
7 Decreased viability GR00301-A 10.17 FXN
8 Decreased viability GR00342-S-1 10.17 PRKCG
9 Decreased viability GR00342-S-2 10.17 PRKCG
10 Decreased viability GR00342-S-3 10.17 PRKCG
11 Decreased viability GR00381-A-1 10.17 ATN1
12 Decreased viability GR00402-S-2 10.17 AFG3L2 APTX ATM ATN1 ATXN1 ATXN10
13 no effect GR00402-S-1 9.62 AFG3L2 APTX ATM ATN1 ATXN1 ATXN10

MGI Mouse Phenotypes related to Hereditary Ataxia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.2 AFG3L2 ATM ATN1 ATXN1 ATXN2 ATXN3
2 growth/size/body region MP:0005378 10.03 AFG3L2 ATM ATN1 ATXN1 ATXN2 ATXN7
3 homeostasis/metabolism MP:0005376 10 APTX ATM ATN1 ATXN1 ATXN2 ATXN3
4 muscle MP:0005369 9.5 AFG3L2 ATXN1 ATXN7 CACNA1A FXN KCNA1
5 nervous system MP:0003631 9.5 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 33)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Riluzole Approved, Investigational Phase 2 1744-22-5 5070
2
Resveratrol Approved, Experimental, Investigational Phase 2 501-36-0 445154
3
Nicotinamide Approved, Investigational Phase 2 98-92-0 936
4
Calcium Approved, Nutraceutical Phase 2 7440-70-2 271
5
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
6
Niacin Approved, Investigational, Nutraceutical Phase 2 59-67-6 938
7 Neurotransmitter Agents Phase 2
8 Anticonvulsants Phase 2
9 Neuroprotective Agents Phase 2
10 Calcium, Dietary Phase 2
11 Excitatory Amino Acids Phase 2
12 Excitatory Amino Acid Antagonists Phase 2
13 Anti-Inflammatory Agents Phase 2
14 Anti-Inflammatory Agents, Non-Steroidal Phase 2
15 Analgesics, Non-Narcotic Phase 2
16 Antioxidants Phase 2
17 Platelet Aggregation Inhibitors Phase 2
18 Protective Agents Phase 2
19 Antirheumatic Agents Phase 2
20 Analgesics Phase 2
21 Micronutrients Phase 2
22 Vitamins Phase 2
23 Trace Elements Phase 2
24 Hypolipidemic Agents Phase 2
25 Vitamin B Complex Phase 2
26 Vitamin B3 Phase 2
27 Nutrients Phase 2
28 Vasodilator Agents Phase 2
29 Vitamin B9 Phase 2
30 Folate Phase 2
31 Lipid Regulating Agents Phase 2
32 Nicotinic Acids Phase 2
33 Antimetabolites Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Phase I/II Study of Umbilical Cord Mesenchymal Stem Cell Therapy for Patients With Hereditary Ataxia Unknown status NCT01360164 Phase 1, Phase 2
2 Phase 2 Study of Riluzole Effects on Patients With Chronic Cerebellar Ataxia Completed NCT00202397 Phase 2 Riluzole
3 A Randomised Placebo-controlled Crossover Trial of Micronised Resveratrol as a Treatment for Friedreich Ataxia Recruiting NCT03933163 Phase 2 Resveratrol
4 A Randomized, Double-blind, Placebo-controlled, Parallel-group, Multicentre Study of the Efficacy and Safety of Nicotinamide in Patients With Friedreich Ataxia Not yet recruiting NCT03761511 Phase 2 Nicotinamide;Placebo
5 Pathogenic Mechanism of Spinocerebellar Ataxia Type 10 (SCA10) Completed NCT00004306
6 Identification of Biomarkers in Patients With Autosomal Dominant Cerebellar Ataxia Completed NCT01470729
7 The Role of Autoimmunity in Neurologic Complications of Celiac Disease Completed NCT00692861
8 Biomarkers in Friedreich's Ataxia Recruiting NCT02497534
9 Phenotype/Genotype Correlations in Movement Disorders Recruiting NCT00018889
10 Deep Brain Stimulation in Disabling Action Tremor: A Randomized, Double-blind Study Comparing the Ventral Intermediate Nucleus (VIM) of the Thalamus and the Posterior Subthalamic Area (PSA) / Zona Incerta (The TREMORSTIM Study) Enrolling by invitation NCT03156517

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 29

Anatomical Context for Hereditary Ataxia

MalaCards organs/tissues related to Hereditary Ataxia:

40
Eye, Cerebellum, Bone, Brain, Testes, Thalamus, Heart
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 523)
# 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. 54 61 24
15148151 2004
2
Hereditary Ataxia Overview 61 6
20301317 1998
3
The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies. 61 24
24603320 2014
4
Autosomal-recessive congenital cerebellar ataxia is caused by mutations in metabotropic glutamate receptor 1. 61 24
22901947 2012
5
CAPN1 mutations: Expanding the CAPN1-related phenotype: From hereditary spastic paraparesis to spastic ataxia. 24
30572172 2019
6
Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia. 24
30926972 2019
7
A study in a Polish ataxia cohort indicates genetic heterogeneity and points to MTCL1 as a novel candidate gene. 24
30548255 2019
8
Homozygous PCDH12 variants result in phenotype of cerebellar ataxia, dystonia, retinopathy, and dysmorphism. 24
30459466 2019
9
GDAP2 mutations implicate susceptibility to cellular stress in a new form of cerebellar ataxia. 24
30084953 2018
10
Biallelic SQSTM1 mutations in early-onset, variably progressive neurodegeneration. 24
29959261 2018
11
Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects. 24
29604224 2018
12
Recessive mutations in VPS13D cause childhood onset movement disorders. 24
29518281 2018
13
Exome Sequencing Identifies a Novel Sorting Nexin 14 Gene Mutation Causing Cerebellar Atrophy and Intellectual Disability. 24
30473892 2018
14
SCA28: Novel Mutation in the AFG3L2 Proteolytic Domain Causes a Mild Cerebellar Syndrome with Selective Type-1 Muscle Fiber Atrophy. 24
26868664 2017
15
Dystonia in ATP2B3-associated X-linked spinocerebellar ataxia. 24
27653636 2016
16
Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia. 24
27543974 2016
17
Spinocerebellar ataxia: relationship between phenotype and genotype - a review. 24
27220866 2016
18
Episodic ataxia associated with a de novo SCN2A mutation. 24
27328862 2016
19
Genes for spinocerebellar ataxia with blindness and deafness (SCABD/SCAR3, MIM# 271250 and SCABD2). 24
26669662 2016
20
A homozygous mutation of VWA3B causes cerebellar ataxia with intellectual disability. 24
26157035 2016
21
Gain-of-function FHF1 mutation causes early-onset epileptic encephalopathy with cerebellar atrophy. 24
27164707 2016
22
SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study. 24
27086870 2016
23
Diffuse hypomyelination is not obligate for POLR3-related disorders. 24
27029625 2016
24
Neuropathology in a case of episodic ataxia type 4. 24
26264377 2016
25
Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA. 24
26657514 2016
26
Human thioredoxin 2 deficiency impairs mitochondrial redox homeostasis and causes early-onset neurodegeneration. 24
26626369 2016
27
Mutations in the sodium channel gene SCN2A cause neonatal epilepsy with late-onset episodic ataxia. 24
26645390 2016
28
ITPR1 gene p.Val1553Met mutation in Russian family with mild Spinocerebellar ataxia. 24
26770814 2016
29
Molecular-genetic characterization and rescue of a TSFM mutation causing childhood-onset ataxia and nonobstructive cardiomyopathy. 24
27677415 2016
30
Pure cerebellar ataxia linked to large C9orf72 repeat expansion. 24
26609732 2016
31
Mutation in ATG5 reduces autophagy and leads to ataxia with developmental delay. 24
26812546 2016
32
UBA5 Mutations Cause a New Form of Autosomal Recessive Cerebellar Ataxia. 24
26872069 2016
33
ATP1A3 Mutation in Adult Rapid-Onset Ataxia. 24
26990090 2016
34
A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia. 24
26456284 2015
35
TPP1 deficiency: Rare cause of isolated childhood-onset progressive ataxia. 24
26224725 2015
36
Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73. 24
26070982 2015
37
PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia. 24
25808372 2015
38
Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction. 24
25848753 2015
39
Loss of PCLO function underlies pontocerebellar hypoplasia type III. 24
25832664 2015
40
RNF216 mutations as a novel cause of autosomal recessive Huntington-like disorder. 24
25841028 2015
41
GRID2 mutations span from congenital to mild adult-onset cerebellar ataxia. 24
25841024 2015
42
Early-onset autosomal recessive cerebellar ataxia associated with retinal dystrophy: new human hotfoot phenotype caused by homozygous GRID2 deletion. 24
25122145 2015
43
SPG7 mutations are a common cause of undiagnosed ataxia. 24
25681447 2015
44
Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4. 24
25728773 2015
45
Mutation of SLC9A1, encoding the major Na⁺/H⁺ exchanger, causes ataxia-deafness Lichtenstein-Knorr syndrome. 24
25205112 2015
46
Homozygous splice mutation in CWF19L1 in a Turkish family with recessive ataxia syndrome. 24
25361784 2014
47
Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome. 24
25439728 2014
48
TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment. 24
25070513 2014
49
Autosomal recessive cerebellar ataxia type 3 due to ANO10 mutations: delineation and genotype-phenotype correlation study. 24
25089919 2014
50
A novel missense mutation in CCDC88C activates the JNK pathway and causes a dominant form of spinocerebellar ataxia. 24
25062847 2014

Variations for Hereditary Ataxia

ClinVar genetic disease variations for Hereditary Ataxia:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SACS NM_014363.6(SACS):c.814C>T (p.Arg272Cys)SNV Likely pathogenic 504884 rs374128662 13:23929937-23929937 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
12.85 PRKCG PPP2R2B ATXN7 ATXN3 ATXN2 ATXN10
2
Show member pathways
12.04 ATXN7 ATXN3 ATXN2 ATXN10 ATXN1 ATM
3 11.38 PRKCG PPP2R2B KCNC3 KCNA1 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 nucleolus GO:0005730 9.8 SETX ATXN7 ATXN3 ATXN1 ATM APTX
2 neuronal cell body GO:0043025 9.65 SPTBN2 KCNC3 KCNA1 CACNA1A ATXN10
3 cytoplasm GO:0005737 9.58 TDP1 TBP SPTBN2 SETX SACS PRKCG
4 nuclear matrix GO:0016363 9.46 ATXN7 ATXN3 ATXN1 ATN1
5 dendrite GO:0030425 9.43 SACS PRKCG KCNC3 KCNA1 CACNA1A ATXN10
6 nuclear inclusion body GO:0042405 9.37 ATXN3 ATXN1

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 PRKCG KCNA1 CACNA1A ATXN3
2 response to pain GO:0048265 9.32 PRKCG CACNA1A
3 protein autoprocessing GO:0016540 9.26 FXN AFG3L2
4 single strand break repair GO:0000012 8.96 TDP1 APTX
5 double-strand break repair GO:0006302 8.8 TDP1 SETX APTX

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.58 TDP1 TBP SPTBN2 SETX PPP2R2B KCNC3
2 voltage-gated ion channel activity GO:0005244 9.13 KCNC3 KCNA1 CACNA1A

Sources for Hereditary Ataxia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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