MCID: ATX004
MIFTS: 52

Ataxia

Categories: Rare diseases, Neuronal diseases, Genetic diseases

Aliases & Classifications for Ataxia

MalaCards integrated aliases for Ataxia:

Name: Ataxia 51 29

Classifications:



Summaries for Ataxia

NINDS : 51 Ataxia often occurs when parts of the nervous system that control movement are damaged. People with ataxia experience a failure of muscle control in their arms and legs, resulting in a lack of balance and coordination or a disturbance of gait. While the term ataxia is primarily used to describe this set of symptoms, it is sometimes also used to refer to a family of disorders. It is not, however, a specific diagnosis. Most disorders that result in ataxia cause cells in the part of the brain called the cerebellum to degenerate, or atrophy. Sometimes the spine is also affected. The phrases cerebellar degeneration and spinocerebellar degeneration are used to describe changes that have taken place in a person’s nervous system; neither term constitutes a specific diagnosis. Cerebellar and spinocerebellar degeneration have many different causes. The age of onset of the resulting ataxia varies depending on the underlying cause of the degeneration. Many ataxias are hereditary and are classified by chromosomal location and pattern of inheritance: autosomal dominant,in which the affected person inherits a normal gene from one parent and a faulty gene from the other parent; andautosomal recessive, in which both parents pass on a copy of the faulty gene. Among the more common inherited ataxias are Friedreich’s ataxia and Machado-Joseph disease. Sporadic ataxias can also occur in families with no prior history. Ataxia can also be acquired. Conditions that can cause acquired ataxia include stroke, multiple sclerosis, tumors, alcoholism, peripheral neuropathy, metabolic disorders, and vitamin deficiencies.

MalaCards based summary : Ataxia is related to spinocerebellar ataxia 29, congenital nonprogressive and x-linked hereditary ataxia. An important gene associated with Ataxia is ATM (ATM Serine/Threonine Kinase), and among its related pathways/superpathways are Gemtuzumab ozogamicin Pathway, Pharmacokinetics/Pharmacodynamics and DNA Damage Induced 14-3-3Sigma Signaling. The drugs Clonidine and Estradiol have been mentioned in the context of this disorder. Affiliated tissues include brain, cerebellum and testes, and related phenotypes are Decreased viability with poly (ADPa89ribose)a89polymerasea891 (PARP) inhibitor and behavior/neurological

Wikipedia : 72 Ataxia is a neurological sign consisting of lack of voluntary coordination of muscle movements that... more...

Related Diseases for Ataxia

Diseases in the Ataxia family:

Hereditary Ataxia

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

(show top 50) (show all 1005)
id Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia 29, congenital nonprogressive 34.2 ITPR1 SPTBN2
2 x-linked hereditary ataxia 33.4 APTX ATM FXN PMPCA SETX
3 hereditary spastic paraplegia 33.0 ATXN1 ATXN3 FXN
4 joubert syndrome 21 32.0 APTX FXN SACS SETX TTPA
5 friedreich ataxia 12.3
6 ataxia-telangiectasia 12.3
7 episodic ataxia, type 2 12.2
8 spinocerebellar ataxia 2 12.2
9 spinocerebellar ataxia 1 12.2
10 spinocerebellar ataxia 7 12.2
11 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 12.2
12 spinocerebellar ataxia 6 12.2
13 spinocerebellar ataxia 36 12.1
14 cerebellar ataxia and hypogonadotropic hypogonadism 12.1
15 episodic ataxia/myokymia syndrome 12.1
16 spinocerebellar ataxia 13 12.1
17 spinocerebellar ataxia 17 12.1
18 spinocerebellar ataxia 10 12.1
19 spinocerebellar ataxia 21 12.1
20 spinocerebellar ataxia 20 12.1
21 spinocerebellar ataxia 31 12.1
22 spinocerebellar ataxia 8 12.1
23 spinocerebellar ataxia 27 12.1
24 spinocerebellar ataxia 23 12.1
25 spinocerebellar ataxia 28 12.1
26 episodic ataxia 12.1
27 x-linked sideroblastic anemia with ataxia 12.1
28 spinocerebellar ataxia 14 12.1
29 spinocerebellar ataxia 12 12.1
30 ataxia with isolated vitamin e deficiency 12.1
31 mitochondrial recessive ataxia syndrome 12.1
32 autosomal dominant cerebellar ataxia 12.1
33 cerebellar ataxia 12.1
34 ataxia with vitamin e deficiency 12.1
35 spinocerebellar ataxia, autosomal recessive 8 12.1
36 spinocerebellar ataxia 38 12.0
37 spinocerebellar ataxia 35 12.0
38 spinocerebellar ataxia 34 12.0
39 spinocerebellar ataxia 15 12.0
40 episodic ataxia, type 6 12.0
41 spinocerebellar ataxia 5 12.0
42 spastic ataxia, charlevoix-saguenay type 12.0
43 spinocerebellar ataxia, autosomal recessive 7 12.0
44 spinocerebellar ataxia, autosomal recessive 1 12.0
45 spinocerebellar ataxia 11 12.0
46 spinocerebellar ataxia, autosomal recessive with axonal neuropathy 12.0
47 fragile x-associated tremor/ataxia syndrome 12.0
48 ataxia, posterior column, with retinitis pigmentosa 12.0
49 spinocerebellar ataxia, autosomal recessive 10 12.0
50 spinocerebellar ataxia, autosomal recessive 13 12.0

Graphical network of the top 20 diseases related to Ataxia:



Diseases related to Ataxia

Symptoms & Phenotypes for Ataxia

GenomeRNAi Phenotypes related to Ataxia according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability with poly (ADPa89ribose)a89polymerasea891 (PARP) inhibitor GR00114-A 8.62 ATM ATR

MGI Mouse Phenotypes related to Ataxia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.03 ATR SLC2A1 ATXN1 SPTBN2 ATXN3 TTPA
2 growth/size/body region MP:0005378 9.9 NPC1 ATR SLC2A1 ATXN1 SPTBN2 FLVCR1
3 homeostasis/metabolism MP:0005376 9.86 SETX SLC2A1 ATXN1 SPTBN2 ATXN3 TGM6
4 nervous system MP:0003631 9.44 ATR SLC2A1 ATXN1 SPTBN2 ATXN3 EBF3

Drugs & Therapeutics for Ataxia

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

(show top 50) (show all 281)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Clonidine Approved Phase 4 4205-90-7 2803
2
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
3
Doxepin Approved Phase 4 1668-19-5 667477 667468
4
Histamine Approved, Investigational Phase 4 75614-87-8, 51-45-6 774
5
Oxymetazoline Approved Phase 4 1491-59-4 4636
6
Phenylephrine Approved Phase 4 59-42-7 6041
7
Zolpidem Approved Phase 4 82626-48-0 5732
8
Bupropion Approved Phase 4 34841-39-9, 34911-55-2 444
9
Citalopram Approved Phase 4 59729-33-8 2771
10
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
11
Amantadine Approved Phase 4 768-94-5 2130
12
Chlordiazepoxide Approved, Illicit Phase 4 58-25-3 2712
13
Ethanol Approved Phase 4,Phase 3 64-17-5 702
14
Gabapentin Approved, Investigational Phase 4,Phase 3 60142-96-3 3446
15
Pyrimethamine Approved, Vet_approved Phase 4 58-14-0 4993
16
Sulfadiazine Approved, Vet_approved Phase 4 68-35-9 5215
17
Sulfamethoxazole Approved Phase 4 723-46-6 5329
18
Trimethoprim Approved, Vet_approved Phase 4 738-70-5 5578
19
Acetylcholine Approved Phase 4 51-84-3 187
20
Pioglitazone Approved, Investigational Phase 4,Phase 3 111025-46-8 4829
21
Metformin Approved Phase 4 657-24-9 14219 4091
22
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 2 59-30-3 6037
23
leucovorin Approved, Nutraceutical Phase 4 58-05-9 143 6006
24
gamma-Aminobutyric acid Investigational Phase 4,Phase 3 56-12-2 119
25 Adrenergic Agents Phase 4
26 Adrenergic Agonists Phase 4
27 Adrenergic alpha-2 Receptor Agonists Phase 4
28 Adrenergic alpha-Agonists Phase 4
29 Analgesics Phase 4,Phase 3,Phase 1,Phase 2
30 Antihypertensive Agents Phase 4,Phase 2
31 Autonomic Agents Phase 4,Phase 3,Phase 2,Early Phase 1
32 Contraceptive Agents Phase 4
33 Estradiol 17 beta-cypionate Phase 4
34 Estradiol 3-benzoate Phase 4
35 Estradiol valerate Phase 4 979-32-8
36 Estrogens Phase 4
37 Hormone Antagonists Phase 4,Phase 3,Phase 2,Early Phase 1
38 Hormones Phase 4,Phase 3,Phase 2,Early Phase 1
39 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Early Phase 1
40 insulin Phase 4
41 Insulin, Globin Zinc Phase 4
42 Mitogens Phase 4
43 Neurotransmitter Agents Phase 4,Phase 2,Phase 3
44 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 1,Phase 2,Early Phase 1
45 Polyestradiol phosphate Phase 4
46 Sympatholytics Phase 4
47 Antidepressive Agents Phase 4,Phase 2,Phase 3,Phase 1
48 Antidepressive Agents, Tricyclic Phase 4
49 Central Nervous System Depressants Phase 4,Phase 2,Phase 3,Phase 1
50 GABA Agents Phase 4,Phase 3

Interventional clinical trials:

(show top 50) (show all 235)

id Name Status NCT ID Phase Drugs
1 Status of Growth Hormone/ Insulin-like Growth Factor-1 (GH/IGF-1) Axis and Growth Failure in Ataxia Telangiectasia (AT) Unknown status NCT01052623 Phase 4 Somatropin, Clonidine, L-Arginin-Hydrochloride, Estradiol valerate
2 Assess the Effect of a Single Dose of Zolpidem, Silenor & Placebo on Arousability, Ataxia/Balance & Cognitive Performance in Healthy Volunteers Unknown status NCT02353299 Phase 4 Silenor 6 mg;zolpidem 10 mg
3 An Objective Double-blind Evaluation of Bupropion and Citalopram in an Individual With Friedreich Ataxia Completed NCT01716221 Phase 4 bupropion & Citalopram;Bupropion & Placebo;Placebo & Citalopram;Placebo & Placebo
4 Amantadine for Improving Neurologic Symptoms in Ataxia-Telangiectasia Completed NCT00950196 Phase 4 amantadine sulphate
5 Gabapentin vs Chlordiazepoxide for Ambulatory Alcohol Withdrawal Completed NCT01573052 Phase 4 Chlordiazepoxide;Gabapentin
6 Treatment of Cerebral Toxoplasmosis in HIV/AIDS Completed NCT00367081 Phase 4 TMX-SMX (Bactrim(R));Pyrimethamine plus Sulfadiazine plus leucoverin
7 Neurotoxin and Physical Therapy Completed NCT02177617 Phase 4 Botox injection
8 Response of Individuals With Ataxia-Telangiectasia to Metformin and Pioglitazone Recruiting NCT02733679 Phase 4 Metformin;Pioglitazone
9 Robot Assisted Gait Training in Patients With Infratentorial Stroke Recruiting NCT02680691 Phase 4
10 Blinded, Randomized Study of Gabapentin (Neurontin®) and Gabapentin Enacarbil (Horizant™) in Restless Leg Syndrome Terminated NCT02117076 Phase 4 Gabapentin immediate release;Gabapentin enacarbil extended release
11 Efficacy of Riluzole in Hereditary Cerebellar Ataxia Completed NCT01104649 Phase 2, Phase 3 riluzole;Placebo comparator
12 Study to Assess the Safety and Tolerability of Idebenone in the Treatment of Friedreich's Ataxia Patients Completed NCT00697073 Phase 3 Idebenone
13 Safety, Tolerability and Efficacy of ACTIMMUNE® Dose Escalation in Friedreich's Ataxia Completed NCT02415127 Phase 3 Interferon γ-1b;Placebo
14 Safety, Tolerability and Efficacy of ACTIMMUNE Dose Escalation in Friedreich's Ataxia Study Completed NCT02593773 Phase 3 Interferon γ-1b
15 A Study of Efficacy, Safety and Tolerability of Idebenone in the Treatment of Friedreich's Ataxia (FRDA) Patients Completed NCT00905268 Phase 3 idebenone;Placebo
16 Effect of Pioglitazone Administered to Patients With Friedreich's Ataxia: Proof of Concept Completed NCT00811681 Phase 3 pioglitazone;Placebo
17 Long-Term Safety and Tolerability of Idebenone in Friedreich's Ataxia Patients (MICONOS Extension) Completed NCT00993967 Phase 3 idebenone
18 Study to Assess the Efficacy, Safety and Tolerability of Idebenone in the Treatment of Friedreich's Ataxia Completed NCT00537680 Phase 3 Idebenone;Idebenone;Placebo
19 Conjugate Pneumococcal Vaccine in Ataxia Telangiectasia (AT) Completed NCT00656409 Phase 3 Conjugated pneumococcal vaccine (Prevenar)
20 Patient Reported Outcomes in Friedreich's Ataxia Patients After Withdrawal From Treatment With Idebenone (PROTI) Completed NCT01303406 Phase 3 Idebenone;Placebo
21 Safety and Efficacy of Lithium Carbonate in Patients With Spinocerebellar Ataxia Type 3 Completed NCT01096082 Phase 2, Phase 3 Lithium Carbonate;Placebo
22 STEADFAST Long-Term Safety Extension Completed NCT02797080 Phase 3 interferon γ-1b
23 Cyclophosphamide and Prednisone With or Without Immunoglobulin in Treating Abnormal Muscle Movement in Children With Neuroblastoma Completed NCT00033293 Phase 3 cyclophosphamide;prednisone;Corticotropin-Releasing Hormone
24 A 24-week Open-label Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) Completed NCT01970137 Phase 3 KPS-0373, High dose;KPS-0373, Low dose
25 A Long-Term Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) Completed NCT01970124 Phase 3 KPS-0373, High dose;KPS-0373, Low dose
26 An Extension Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) Completed NCT01970111 Phase 3 KPS-0373, High dose;KPS-0373, Low dose
27 A Confirmatory Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) Completed NCT01970098 Phase 3 KPS-0373, High dose;KPS-0373, Low dose;Placebo
28 A Clinical Trial for Inactivated Japanese Encephalitis Vaccine in Healthy Chinese Infants Completed NCT02367664 Phase 3
29 Postoperative Pain and Morphine Consumption After Mastectomy - Lyrica Completed NCT01391858 Phase 3 lyrica
30 Efficacy and Safety of the Iron Chelator Deferiprone in Parkinson's Disease Completed NCT00943748 Phase 2, Phase 3 deferiprone;placebo
31 Oral HYCAMTIN Plus Whole Brain Radiation Therapy In Treatment Of Brain Metastases Resulting From Non-Small Lung Cancer Completed NCT00390806 Phase 3 HYCAMTIN, oral capsules
32 EDS in Ataxia Telangiectasia Patients Recruiting NCT02770807 Phase 3 EDS-EP dose range of ~5-10 mg DSP/infusion;EDS-EP dose range of ~14-22 mg DSP/infusion;Placebo
33 Evolution of Albumin on AOA1 Patients Supplemented With Coenzyme Q10 Recruiting NCT02333305 Phase 3
34 Oral Gabapentin in Management of Chronic Pelvic Pain in Females: A Randomised Placebo-controlled Study. Recruiting NCT02918760 Phase 3 Gabapentin
35 An Additional Confirmatory Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) Recruiting NCT02889302 Phase 3 KPS-0373;Placebo
36 Trial in Adult Subjects With Spinocerebellar Ataxia Active, not recruiting NCT02960893 Phase 2, Phase 3 BHV-4157;Placebo Comparator
37 Pilot Study of Varenicline (Chantix®) in the Treatment of Friedreich's Ataxia Terminated NCT00803868 Phase 2, Phase 3 varenicline;placebo
38 4-Aminopyridine in Episodic Ataxia Type 2 Unknown status NCT01543750 Phase 2 4-Aminopyridine;Placebo
39 Clinical Study to Evaluate the Safety and Efficacy BMMNC in Cerebellar Ataxia Unknown status NCT01958177 Phase 1, Phase 2
40 Safety and Efficacy of Umbilical Cord Mesenchymal Stem Cell Therapy for Patients With Hereditary Ataxia Unknown status NCT01360164 Phase 1, Phase 2
41 A New Method to Treat Hereditary Cerebellar Ataxia - Umbilical Cord Mesenchymal Stem Cells Transplantation Unknown status NCT01489267 Phase 2
42 The Influence of Deep TMS on Cerebellar Signs in Patients With Machado Joseph Disease Unknown status NCT02039206 Phase 2
43 Use of Rituximab in Opsoclonus-Myoclonus in Children With Neuroblastoma Unknown status NCT00202930 Phase 2 anti-CD20 (Rituximab)
44 Ferrochelating Treatment in Patients Affected by Neurodegeneration With Brain Iron Accumulation (NBIA) Unknown status NCT00907283 Phase 2 Deferiprone
45 A Pilot Clinical Trial With the Iron Chelator Deferiprone in Parkinson's Disease Unknown status NCT01539837 Phase 2 Deferiprone;Placebo
46 Safety and Efficacy of Bone Marrow Derived Autologous Cells Treatment of Cerebral Palsy in Subjects Above 15 Years Unknown status NCT01834664 Phase 1, Phase 2
47 Improving Hand Use in Multiple Sclerosis Unknown status NCT01081275 Phase 2
48 Interferon Gamma-1b in Friedreich Ataxia (FRDA) Completed NCT01965327 Phase 2 Interferon Gamma-1b
49 A Study Investigating the Safety and Tolerability of Deferiprone in Patients With Friedreich's Ataxia Completed NCT00530127 Phase 1, Phase 2 placebo;deferiprone;deferiprone;placebo;deferiprone
50 EPI-743 in Friedreich's Ataxia Point Mutations Completed NCT01962363 Phase 2 EPI-743

Search NIH Clinical Center for Ataxia

Genetic Tests for Ataxia

Genetic tests related to Ataxia:

id Genetic test Affiliating Genes
1 Ataxia 29

Anatomical Context for Ataxia

MalaCards organs/tissues related to Ataxia:

39
Brain, Cerebellum, Testes, Breast, Lung, T Cells, Eye

Publications for Ataxia

Articles related to Ataxia:

(show top 50) (show all 4768)
id Title Authors Year
1
Cerebral compensation during motor function in Friedreich ataxia: The IMAGE-FRDA study. ( 28556242 )
2017
2
Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K(+) channel properties. ( 28380698 )
2017
3
The meanings of physiotherapy and exercise for people living with progressive cerebellar ataxia: an interpretative phenomenological analysis. ( 28166646 )
2017
4
Case report of novel CACNA1A gene mutation causing episodic ataxia type 2. ( 28540055 )
2017
5
Treatment with Caffeic Acid and Resveratrol Alleviates Oxidative Stress Induced Neurotoxicity in Cell and Drosophila Models of Spinocerebellar Ataxia Type3. ( 28912527 )
2017
6
Preventive motor training but not progenitor grafting ameliorates cerebellar ataxia and deregulated autophagy in tambaleante mice. ( 28237314 )
2017
7
Genetic ataxia telangiectasia porcine model phenocopies the multisystemic features of the human disease. ( 28746835 )
2017
8
A Patient-Specific Stem Cell Model to Investigate the Neurological Phenotype Observed in Ataxia-Telangiectasia. ( 28477134 )
2017
9
A Novel Homozygous SACS Mutation Identified by Whole-Exome Sequencing in a Consanguineous Family with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay. ( 28658676 )
2017
10
Co-existence of spastic paraplegia-30 with novel KIF1A mutation and spinocerebellar ataxia 31 with intronic expansion of BEAN and TK2 in a family. ( 28017198 )
2017
11
SYNE1 related cerebellar ataxia presents with variable phenotypes in a consanguineous family from Turkey. ( 28687974 )
2017
12
Paraneoplastic cerebellar ataxia with central hypoventilation. ( 27990459 )
2017
13
Heart and Nervous System Pathology in Compound Heterozygous Friedreich Ataxia. ( 28789479 )
2017
14
Fragile X-Associated Tremor/Ataxia Syndrome: From Molecular Pathogenesis to Development of Therapeutics. ( 28529475 )
2017
15
Novel missense variant of CACNA1A gene: A case report of a family with episodic ataxia type 2. ( 28431595 )
2017
16
Chronic encephalopathy with ataxia, myoclonus, and auditory neuropathy: A case of bismuth poisoning. ( 28084272 )
2017
17
Knockdown and replacement therapy mediated by artificial mirtrons in spinocerebellar ataxia 7. ( 28575281 )
2017
18
West Nile virus (WNV) presenting as acute cerebellar ataxia in an immunocompetent patient. ( 28377090 )
2017
19
Ataxia-telangiectasia: recommendations for multidisciplinary treatment. ( 28318010 )
2017
20
Febrile ataxia and myokymia broaden the SPG26 hereditary spastic paraplegia phenotype. ( 28626794 )
2017
21
A Middle-aged Man With Progressive Ophthalmoparesis, Ataxia, and Spastic Paraparesis. ( 28437518 )
2017
22
Autosomal Recessive Cerebellar Ataxia type 1 mimicking multiple sclerosis: A report of two siblings with a novel mutation in SYNE1 gene in a Saudi family. ( 28017257 )
2017
23
Distinguishing spinocerebellar ataxia with pure cerebellar manifestation from multiple system atrophy (MSA-C) through saccade profiles. ( 27866117 )
2017
24
Synergistic Toxicity of Polyglutamine-Expanded TATA-Binding Protein in Glia and Neuronal Cells: Therapeutic Implications for Spinocerebellar Ataxia 17. ( 28821675 )
2017
25
Different subregional metabolism patterns in patients with cerebellar ataxia by 18F-fluorodeoxyglucose positron emission tomography. ( 28319124 )
2017
26
Can a Neurosteroid Ameliorate Fragile X-Associated Tremor/Ataxia Syndrome? ( 28884425 )
2017
27
Computer-based assessment of upper-limb incoordination in autosomal recessive spastic ataxia of Charlevoix-Saguenay patients: A pilot study. ( 28870592 )
2017
28
Increased biological activity of protein Kinase C gamma is not required in Spinocerebellar ataxia 14. ( 28738819 )
2017
29
The c-Abl inhibitor, nilotinib, as a potential therapeutic agent for chronic cerebellar ataxia. ( 28601294 )
2017
30
Selected missense mutations impair frataxin processing in Friedreich ataxia. ( 28812047 )
2017
31
Homozygous c.359del variant in MGME1 is associated with early onset cerebellar ataxia. ( 28711739 )
2017
32
Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia. ( 28362824 )
2017
33
A novel mitochondrial ATP6 frameshift mutation causing isolated complex V deficiency, ataxia and encephalomyopathy. ( 28412374 )
2017
34
Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia. ( 28459997 )
2017
35
B Cell-Specific Expression of Ataxia-Telangiectasia Mutated Protein Kinase Promotes Chronic Gammaherpesvirus Infection. ( 28701397 )
2017
36
Calcium dysregulation and Cdk5-ATM pathway involved in a mouse model of fragile X-associated tremor/ataxia syndrome. ( 28444183 )
2017
37
Brain edema with clasmatodendrosis complicating ataxia telangiectasia. ( 28351596 )
2017
38
CAG repeat length does not associate with the rate of cerebellar degeneration in spinocerebellar ataxia type 3. ( 27942452 )
2017
39
Impact of diabetes in the Friedreich ataxia clinical outcome measures study. ( 28904984 )
2017
40
XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia. ( 28002403 )
2017
41
Refractory status dystonicus in ataxia telangiectasia. ( 28084263 )
2017
42
Spinal anaesthesia for a caesarean section in a patient with paraneoplastic cerebellar ataxia. ( 28515524 )
2017
43
Purkinje Cell Degeneration and Motor Coordination Deficits in a New Mouse Model of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay. ( 28588446 )
2017
44
Case of Childhood Ataxia with Central Nervous System Hypomyelination with a Novel Mutation in EIF2B3 gene. ( 28904586 )
2017
45
Inhibition of ataxia telangiectasia related-3 (ATR) improves therapeutic index in preclinical models of non-small cell lung cancer (NSCLC) radiotherapy. ( 28697853 )
2017
46
How does performance of the Friedreich Ataxia Functional Composite compare to rating scales? ( 28695363 )
2017
47
Clinical behaviour of spinocerebellar ataxia type 12 and intermediate length abnormal CAG repeats in PPP2R2B. ( 27864267 )
2017
48
Transcriptional regulation of ataxia-telangiectasia and Rad3-related protein by activated p21-activated kinase-1 protects keratinocytes in UV-B-induced premalignant skin lesions. ( 28692051 )
2017
49
Xeroderma pigmentosum complementation group F: A rare cause of cerebellar ataxia with chorea. ( 28431612 )
2017
50
Pharmacological therapeutics in Friedreich ataxia: the present state. ( 28724340 )
2017

Variations for Ataxia

ClinVar genetic disease variations for Ataxia:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 NPC1 NM_000271.4(NPC1): c.3019C> G (p.Pro1007Ala) single nucleotide variant Pathogenic rs80358257 GRCh37 Chromosome 18, 21118528: 21118528
2 PTRH2 NM_016077.4(PTRH2): c.254A> C (p.Gln85Pro) single nucleotide variant Pathogenic/Likely pathogenic rs730882234 GRCh38 Chromosome 17, 59697725: 59697725
3 EBF3 NM_001005463.2(EBF3): c.488G> T (p.Arg163Leu) single nucleotide variant Pathogenic rs1057519389 GRCh37 Chromosome 10, 131755588: 131755588
4 EBF3 NM_001005463.2(EBF3): c.488G> A (p.Arg163Gln) single nucleotide variant Pathogenic rs1057519389 GRCh37 Chromosome 10, 131755588: 131755588
5 SLC2A1 NM_006516.2(SLC2A1): c.470dupG (p.Thr158Hisfs) duplication Pathogenic rs1057518821 GRCh38 Chromosome 1, 42930672: 42930672
6 ATM NM_000051.3(ATM): c.687delA (p.Asn230Ilefs) deletion Pathogenic rs1057518965 GRCh37 Chromosome 11, 108115539: 108115539
7 NPC1 NM_000271.4(NPC1): c.1421C> T (p.Pro474Leu) single nucleotide variant Pathogenic rs372445155 GRCh38 Chromosome 18, 23554890: 23554890

Expression for Ataxia

Search GEO for disease gene expression data for Ataxia.

Pathways for Ataxia

Pathways related to Ataxia according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 10.32 ATM ATR
2 9.9 ATM ATR

GO Terms for Ataxia

Cellular components related to Ataxia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 axon GO:0030424 9.46 ATCAY KCNA1 SACS SETX
2 nucleolus GO:0005730 9.35 APTX ATXN1 ATXN3 ITPR1 SETX
3 nuclear inclusion body GO:0042405 8.62 ATXN1 ATXN3

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

id Name GO ID Score Top Affiliating Genes
1 multicellular organism growth GO:0035264 9.54 ATM FLVCR1 SPTBN2
2 replicative senescence GO:0090399 9.32 ATM ATR
3 positive regulation of DNA damage response, signal transduction by p53 class mediator GO:0043517 9.26 ATM ATR
4 positive regulation of telomerase catalytic core complex assembly GO:1904884 9.16 ATM ATR
5 establishment of RNA localization to telomere GO:0097694 8.96 ATM ATR
6 establishment of macromolecular complex localization to telomere GO:0097695 8.62 ATM ATR

Sources for 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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