AVED
MCID: ATX019
MIFTS: 48

Ataxia with Vitamin E Deficiency (AVED)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Ataxia with Vitamin E Deficiency

MalaCards integrated aliases for Ataxia with Vitamin E Deficiency:

Name: Ataxia with Vitamin E Deficiency 24 52 25 29 6 71
Ataxia with Isolated Vitamin E Deficiency 24 52 25
Familial Isolated Vitamin E Deficiency 24 52 25
Friedreich-Like Ataxia 24 52 25
Aved 24 52 25
Friedreich Ataxia Phenotype with Selective Vitamin E Deficiency 25
Friedreich-Like Ataxia with Selective Vitamin E Deficiency 52
Familial Isolated Deficiency of Vitamin E 52
Ataxia, with Vitamin E Deficiency 39
Isolated Vitamin E Deficiency 52
Five 25

Characteristics:

GeneReviews:

24
Penetrance Aved shows nearly complete penetrance in individuals who are homozygous or compound heterozygous for a ttpa pathogenic variant.

Classifications:



Summaries for Ataxia with Vitamin E Deficiency

NIH Rare Diseases : 52 Ataxia with vitamin E deficiency (AVED) is a progressive disease affecting motor control and movement. Symptoms of AVED include slurred speech (dysarthria ), difficulty coordinating movements (ataxia ), numbness in the hands and feet (peripheral neuropathy ), and progressive leg weakness. Some affected individuals may experience vision loss due to damage to the back of the eye (retinitis pigmentosa ). Symptoms typically begin during childhood or adolescence and worsen with age, resulting in the need for a wheelchair by early adulthood. AVED is caused by a mutation to the TTPA gene . When this gene is damaged, vitamin E cannot be distributed throughout the body. Vitamin E is important because it protects the cells of the neurological system (neurons) from dangerous molecules called free radicals. AVED is inherited in an autosomal recessive manner. Treatment for AVED includes vitamin E supplements, which will prevent AVED from developing if given before symptoms begin and may reverse some neurological symptoms if begun after AVED develops.

MalaCards based summary : Ataxia with Vitamin E Deficiency, also known as ataxia with isolated vitamin e deficiency, is related to atrioventricular block and vitamin e, familial isolated deficiency of, and has symptoms including ataxia An important gene associated with Ataxia with Vitamin E Deficiency is TTPA (Alpha Tocopherol Transfer Protein). The drugs Tacrolimus and Latanoprost have been mentioned in the context of this disorder. Affiliated tissues include breast, testes and lung, and related phenotypes are abnormal pyramidal sign and muscle weakness

Genetics Home Reference : 25 Ataxia with vitamin E deficiency is a disorder that impairs the body's ability to use vitamin E obtained from the diet. Vitamin E is an antioxidant, which means that it protects cells in the body from the damaging effects of unstable molecules called free radicals. A shortage (deficiency) of vitamin E can lead to neurological problems, such as difficulty coordinating movements (ataxia) and speech (dysarthria), loss of reflexes in the legs (lower limb areflexia), and a loss of sensation in the extremities (peripheral neuropathy). Some people with this condition have developed an eye disorder called retinitis pigmentosa that causes vision loss. Most people who have ataxia with vitamin E deficiency start to experience problems with movement between the ages of 5 and 15 years. The movement problems tend to worsen with age.

GeneReviews: NBK1241

Related Diseases for Ataxia with Vitamin E Deficiency

Diseases related to Ataxia with Vitamin E Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 347)
# Related Disease Score Top Affiliating Genes
1 atrioventricular block 12.3
2 vitamin e, familial isolated deficiency of 12.1
3 third-degree atrioventricular block 12.0
4 aortic valve disease 2 11.8
5 atrial septal defect 7 with or without atrioventricular conduction defects 11.7
6 second-degree atrioventricular block 11.7
7 first-degree atrioventricular block 11.5
8 dystonia 11, myoclonic 11.4
9 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 11.4
10 cerebellar ataxia, early-onset, with retained tendon reflexes 11.4
11 spastic ataxia, charlevoix-saguenay type 11.4
12 anemia, sideroblastic, and spinocerebellar ataxia 11.4
13 right atrial isomerism 11.4
14 atrial heart septal defect 7 11.2
15 progressive familial heart block 11.1
16 congenitally corrected transposition of the great arteries 11.1
17 his bundle tachycardia 11.1
18 ataxia and polyneuropathy, adult-onset 10.6
19 progressive familial heart block, type ia 10.6
20 syncope 10.6
21 sick sinus syndrome 10.5
22 atrial fibrillation 10.5
23 progressive familial heart block, type ib 10.5
24 right bundle branch block 10.5
25 left bundle branch hemiblock 10.4
26 congestive heart failure 10.4
27 hair whorl 10.4
28 sinoatrial node disease 10.4
29 friedreich ataxia 10.4
30 wolff-parkinson-white syndrome 10.4
31 mitral valve insufficiency 10.3
32 dilated cardiomyopathy 10.3
33 aneurysm 10.3
34 atrial standstill 1 10.3
35 arteriovenous malformation 10.3
36 autosomal recessive disease 10.3
37 lyme disease 10.2
38 hypertriglyceridemia, familial 10.2
39 dystonia 10.2
40 ventricular fibrillation, paroxysmal familial, 1 10.2
41 heart disease 10.2
42 heart septal defect 10.2
43 spasticity 10.2
44 long qt syndrome 10.2
45 end stage renal failure 10.2
46 posttransplant acute limbic encephalitis 10.2
47 perching syndrome 10.1
48 oral candidiasis 10.1
49 axonal neuropathy 10.1
50 abetalipoproteinemia 10.1

Graphical network of the top 20 diseases related to Ataxia with Vitamin E Deficiency:



Diseases related to Ataxia with Vitamin E Deficiency

Symptoms & Phenotypes for Ataxia with Vitamin E Deficiency

Human phenotypes related to Ataxia with Vitamin E Deficiency:

31 (show all 25)
# Description HPO Frequency HPO Source Accession
1 abnormal pyramidal sign 31 hallmark (90%) HP:0007256
2 muscle weakness 31 hallmark (90%) HP:0001324
3 areflexia 31 hallmark (90%) HP:0001284
4 scoliosis 31 frequent (33%) HP:0002650
5 nystagmus 31 frequent (33%) HP:0000639
6 dysarthria 31 frequent (33%) HP:0001260
7 gait disturbance 31 frequent (33%) HP:0001288
8 nyctalopia 31 frequent (33%) HP:0000662
9 sensory neuropathy 31 frequent (33%) HP:0000763
10 dysmetria 31 frequent (33%) HP:0001310
11 pes cavus 31 frequent (33%) HP:0001761
12 dysdiadochokinesis 31 frequent (33%) HP:0002075
13 tremor 31 occasional (7.5%) HP:0001337
14 diabetes mellitus 31 occasional (7.5%) HP:0000819
15 developmental regression 31 occasional (7.5%) HP:0002376
16 visual impairment 31 occasional (7.5%) HP:0000505
17 abnormality of retinal pigmentation 31 occasional (7.5%) HP:0007703
18 abnormality of visual evoked potentials 31 occasional (7.5%) HP:0000649
19 hypertonia 31 occasional (7.5%) HP:0001276
20 hypertrophic cardiomyopathy 31 occasional (7.5%) HP:0001639
21 arrhythmia 31 occasional (7.5%) HP:0011675
22 skeletal muscle atrophy 31 occasional (7.5%) HP:0003202
23 hemiplegia/hemiparesis 31 occasional (7.5%) HP:0004374
24 dystonia 31 occasional (7.5%) HP:0001332
25 mental deterioration 31 occasional (7.5%) HP:0001268

UMLS symptoms related to Ataxia with Vitamin E Deficiency:


ataxia

Drugs & Therapeutics for Ataxia with Vitamin E Deficiency

Drugs for Ataxia with Vitamin E Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 1634)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tacrolimus Approved, Investigational Phase 4 104987-11-3 445643 439492 6473866
2
Latanoprost Approved, Investigational Phase 4 130209-82-4 5282380 5311221
3
Clonidine Approved Phase 4 4205-90-7 2803
4
Glucagon Approved Phase 4 16941-32-5
5
Mycophenolic acid Approved Phase 4 24280-93-1 446541
6
Famotidine Approved Phase 4 76824-35-6 3325
7
Haloperidol Approved Phase 4 52-86-8 3559
8
Linagliptin Approved Phase 4 668270-12-0 10096344
9
Toremifene Approved, Investigational Phase 4 89778-26-7 3005573
10
Mecasermin Approved, Investigational Phase 4 68562-41-4
11
Entecavir Approved, Investigational Phase 4 142217-69-4 153941
12
Bacitracin Approved, Vet_approved Phase 4 1405-87-4 439542 10909430
13
Lincomycin Approved, Vet_approved Phase 4 154-21-2 656509
14
Vancomycin Approved Phase 4 1404-90-6 441141 14969
15
Mebeverine Approved, Investigational Phase 4 3625-06-7 62887
16
Alverine Approved, Investigational Phase 4 150-59-4 3678
17
Bromhexine Approved Phase 4 3572-43-8
18
Tigecycline Approved Phase 4 220620-09-7 5282044
19
Teicoplanin Approved, Investigational Phase 4 61036-62-2
20
Nitric Oxide Approved Phase 4 10102-43-9 145068
21
Insulin aspart Approved Phase 4 116094-23-6 16132418
22
Clotrimazole Approved, Vet_approved Phase 4 23593-75-1 2812
23
Sumatriptan Approved, Investigational Phase 4 103628-46-2 5358
24
Nebivolol Approved, Investigational Phase 4 152520-56-4, 118457-14-0, 99200-09-6 71301
25
Liraglutide Approved Phase 4 204656-20-2 44147092
26
Metoprolol Approved, Investigational Phase 4 51384-51-1, 37350-58-6 4171
27
Udenafil Approved, Investigational Phase 4 268203-93-6 6918523
28
Meloxicam Approved, Vet_approved Phase 4 71125-38-7 5281106 54677470
29
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741
30
Alendronate Approved Phase 4 121268-17-5, 66376-36-1 2088
31
Fluticasone Approved, Experimental Phase 4 90566-53-3 62924
32
Varenicline Approved, Investigational Phase 4 249296-44-4 5310966
33
Ibuprofen Approved Phase 4 15687-27-1 3672
34
Fexofenadine Approved, Investigational Phase 4 83799-24-0 3348
35
Retapamulin Approved Phase 4 224452-66-8 6918462
36
Codeine Approved, Illicit Phase 4 76-57-3 5284371
37
Oxymetazoline Approved, Investigational Phase 4 1491-59-4 4636
38
Phenylephrine Approved Phase 4 59-42-7 6041
39
Mepivacaine Approved, Vet_approved Phase 4 96-88-8 4062
40
Esomeprazole Approved, Investigational Phase 4 161796-78-7, 161973-10-0, 119141-88-7 9568614 4594
41
Bisacodyl Approved Phase 4 603-50-9
42
Sorbitol Approved Phase 4 50-70-4 5780
43
Cetylpyridinium Approved Phase 4 7773-52-6
44
Ciclopirox Approved, Investigational Phase 4 29342-05-0 2749
45
Adefovir dipivoxil Approved, Investigational Phase 4 142340-99-6 60871
46
Fenofibrate Approved Phase 4 49562-28-9 3339
47
Efavirenz Approved, Investigational Phase 4 154598-52-4 64139
48
Ketoconazole Approved, Investigational Phase 4 65277-42-1 47576
49
Cetirizine Approved Phase 4 83881-51-0 2678
50
Methylene blue Approved, Investigational Phase 4 61-73-4

Interventional clinical trials:

(show top 50) (show all 10000)
# Name Status NCT ID Phase Drugs
1 Kinetics of the Finasteride Prostate Induced Apoptosis Unknown status NCT00130767 Phase 4 finasteride
2 0.3% Sodium Hyaluronate in the Treatment of Dry Eye of Diabetic Patients Unknown status NCT02595606 Phase 4 0.3% Sodium Hyaluronate
3 A Randomised Control Trial to Determine the Effectiveness of Sensory Stimulation Program in Reducing the Length of Time Spent by Severely Brain Injured Patients in a Vegetative State in the Acute Hospital Environment Unknown status NCT00163878 Phase 4
4 Filgrastim for Treatment of Premature Ovarian Insufficiency: Randomized Clinical Trial Unknown status NCT02783937 Phase 4 Saline
5 Effectiveness of Oral Midazolam for Sedation in Patients Undergoing Upper Gastrointestinal Endoscopy Unknown status NCT01990937 Phase 4 Oral midazolam
6 Amiodarone Prophylaxis for Atrial Fibrillation in Patients Undergoing Surgery for Lung Cancer: A Controlled, Randomized, Double Blinded Trial Unknown status NCT00724581 Phase 4 Amiodarone
7 Comparison of Efficacy, Safety and Anti-Inflammatory Effect Between Topical 0.05%Cyclosporine A Emulsion and REFRESH® in Patients With Moderate to Severe Dry Eyes Unknown status NCT00704275 Phase 4 0.05% cyclosporin eye drop
8 Adding L-carnitine in Clomiphene Resistant Pco Improves the Quality of Ovulation and the Pregnancy Outcome,a Randomized Clinical Trial Unknown status NCT01665547 Phase 4 l-carnitine
9 Impact of a Biological Glue (Evicel®) on the Peri Operative Bleeding in Total Knee Prothesis Surgery Unknown status NCT00983112 Phase 4 Human Fibrinogen and human thrombin (Evicel);Sodium Chlorure (Physiological saline)
10 METformin And Longevity (METAL): A Window of Opportunity Study Investigating Biological Effects of Metformin in Localised Prostate Cancer Unknown status NCT02511665 Phase 4 Metformin;Placebo
11 Comparison of Stenting Versus Best Medical Therapy for Treatment of Ostial Renal Artery Stenosis: a Randomized Controlled Trial in Patients With Advanced Atherosclerosis. Unknown status NCT00711984 Phase 4
12 Effect of Perineural Dexmedetomidine on the ED50 Ropivacaine for Brachial Plexus Blocks in Pediatric Patients: a Randomized Trial Unknown status NCT02781246 Phase 4 perineural dexmedetomidine
13 Artemether/ Lumefantrine: A Study of the Effect of Local Food on Pharmacokinetics of Lumefantrine and Population Pharmacokinetics of Lumefantrine Among Ugandan Children Unknown status NCT01944189 Phase 4
14 Prospective Comparative Study of the Efficacy of Common Antipyretic Treatments in Febrile Children Unknown status NCT02294071 Phase 4 Ibuprofen;Acetaminophen
15 Intervention Study Measuring Inflammatory Cytokine Levels in the Serum of Patients Who Underwent an Acute MI, and the Influence of Vitamin D on These Levels Unknown status NCT01115842 Phase 4 Vitamin D
16 Evaluation of Adjuvant Endocrine Therapy for Operable ER-beta Positive, ER-alpha/PR Negative, Her-2 Negative Breast Cancer Patients Unknown status NCT02089854 Phase 4 Toremifene; Anastrozole
17 Random Clinical Trial for Comparison of Efficacy and Safety of Simple Microfracture and Modified Microfracture Using Collagen in the Patients With Knee Cartilage Defects Unknown status NCT02539030 Phase 4
18 Conventional Fluorescein Sodium Dosage o.1ml/kg Compared With a Lower Fluorescein Sodium Dosage o.02ml/kg for the Detection of Gastric Intestinal Metaplasia in a High Risk Population: a Randomized Controlled Trial Unknown status NCT02534818 Phase 4 lower fluorescein sodium dosage 0.02ml/kg;conventional fluorescein sodium dosage 0.1ml/kg
19 Effectiveness of the Lavage With 70% Alcohol Plus 0.5% Chlorhexidine Compared to 70% Alcohol for Chemical Matricectomy in the Surgical Treatment of Ingrown Toenails Unknown status NCT01844141 Phase 4 70% alcohol;70% alcohol - 0.5% clorhexidine
20 NK Activity Modulation by Intravenous Lidocaine During Laparoscopic Colorectal Surgery Unknown status NCT01841294 Phase 4 Intravenous Lidocaine;Normal saline infusion
21 This Clinical Trial Evaluated the Efficacy and Safety of a Modified Microfracture Using Collagen Compared to Those of a Simple Microfracture in Patients With Cartilage Defects in Their Ankles. Unknown status NCT02519881 Phase 4
22 CHUSPAN PAN BP Treatment of Polyarteritis Nodosa and Microscopic Polyangiitis Without Poor-Prognosis Factors a Prospective Randomized Study in 125 Patients Unknown status NCT00400075 Phase 4 azathioprine;cyclophosphamide
23 CHUSPAN SCS BP Treatment of Churg–Strauss Syndrome Without Poor-Prognosis Factors: a Prospective Randomized Study in 72 Patients. Unknown status NCT00399399 Phase 4 azathioprine;cyclophosphamide
24 Studies of Early Diabetic Glomerulopathy-the Relation Between Histopathology, Kidney Function and Metabolic Control. Natural History and Effect of ARB Unknown status NCT00328302 Phase 4 Candesartan;Placebo
25 Laparoscopic Roux-en-Y Gastric Bypass vs. Laparoscopic BPD-Duodenal Switch for Superobesity (BMI > 50 kg/m2)- A Randomized Clinical Trial Unknown status NCT00327912 Phase 4
26 Intracoronary Brachytherapy for Recurrent Restenosis After Multiple Drug-Eluting Stents. Short Title: Scripps V Unknown status NCT00714545 Phase 4
27 Double Blind, Placebo-Controlled Trial of THC as add-on Therapy for PTSD Unknown status NCT00965809 Phase 4 Tetrahydrocannabinol
28 Comparison Between the Analgesic Affects of Tramadol® and "Verbal Anesthesia" on Pain Management Associated With the Insertion of Jaydess® in Nulliparous Women Unknown status NCT02706509 Phase 4 Tramadol
29 Patient-Centered Comparative Effectiveness Research (CER) Study of Home-based Interventions to Prevent CA-MRSA Infection Recurrence Unknown status NCT02566928 Phase 4 2% mupirocin ointment
30 The Effect of Bupivacaine (Marcaine) in Reducing Early Post Tonsillectomy Pain Unknown status NCT01582022 Phase 4 Bupivacaine;normal saline
31 Esomeprazole or Famotidine in the Management of Aspirin Related Non-ulcer Dyspepsia - a Double Blind Randomized Control Study Unknown status NCT00978159 Phase 4 esomeprazole;Famotidine
32 Immunosuppression in Renal Transplantation in The Elderly: Time to Rethink. - nEverOld Study Unknown status NCT01631058 Phase 4 Everolimus
33 A Double Blind Randomised Control Trial to Measure the Effect of the Addition of Clindamycin to Flucloxacillin for the Treatment of Limb Cellulitis Unknown status NCT01876628 Phase 4 Flucloxacillin and Clindamycin;Flucloxacillin and placebo
34 The Efficacy and Safety of Nicotinic Acid in the Hemodialysis Patients With Hyperphosphatemia Unknown status NCT02836184 Phase 4 Nicotinic Acids;Calcium Carbonate
35 A Double-blind, Randomized, Post-marketing Surveillance to Evaluate the Efficacy of Intra-articular Collagen Injection in Patients With Knee Joint Pain Compared to Normal Saline Injection Unknown status NCT02539095 Phase 4
36 Combination or Sequential Therapy of Peginterferon Alfa-2a and Entecavir for Hepatitis B e Antigen-positive Patients With Chronic Hepatitis B Unknown status NCT01906580 Phase 4 Peg-IFNα-2a;Entecavir
37 Mechanisms of Low Protein Diet Supplemented With α-ketoacids on Autophagy and Improving Muscle Wasting in Chronic Kidney Disease: the Role of Autophagy in Muscle Wasting Unknown status NCT02568020 Phase 4 keto-amino acids
38 G-CSF Supplemented Medium for IVF Embryo Culture in Patients Undergoing IVF Unknown status NCT02651285 Phase 4
39 A Multicenter Study to Evaluate the Efficacy of Yinzhihuang Oral Liquid on Indirect Bilirubin of Neonates With Glucose-6-phosphate Dehydrogenase Deficiency Unknown status NCT02594904 Phase 4 Yinzhihuang Oral Liquid
40 Interstitial Fibrosis in Protocol Biopsies of Renal Allografts: A Prospective, Randomised Trial of Sirolimus Versus Cyclosporine.(Fibrasic) Unknown status NCT00493194 Phase 4 sirolimus;cyclosporine;daclizumab
41 Pharmacokinetics Variability of Ceftriaxone in Septic ICU Patients Unknown status NCT00449800 Phase 4 ceftriaxone
42 A Randomized Double-blind Study to Evaluate the Effect of Linagliptin on Pancreatic Beta Cell Function and Insulin Sensitivity in Patients With Type 2 Diabetes Mellitus on Metformin Monotherapy Unknown status NCT02097342 Phase 4 Linagliptin;Placebo;Voglibose
43 Study of the Molecular Mechanisms Underlying the Cross-neutralizing Capacity of AS04-adjuvanted HPV Vaccine (Cervarix®) in Comparison With the Aluminiumhydroxyphosphate Sulphate Adjuvanted HPV Vaccine (Gardasil®) Unknown status NCT01914367 Phase 4
44 Study of Vitamin D2 Virus 1,25(OH)2-Vitamin D3 and Normal Protein Diet Virus Low Protein Diet in the Treatment of CKD-MBD and Malnutrition for Progressive CKD Patients Unknown status NCT02005302 Phase 4 1,25(OH)2 Vitamin D3;Vitamin D2
45 A Five Year, Prospective, Randomized, Blinded, Controlled Trial Comparing the Efficacy of a Modified Diabetes Prevention Protocol and the Standard Comprehensive Outpatient Care in Lowering the Incidence of New Onset Diabetes Among People Treated for Schizophrenia and Are at Risk to Develop Type II Diabetes Mellitus. Unknown status NCT00182494 Phase 4
46 Effect of Modified-release Compared to Conventional Hydrocortisone on Fatigue, Measured by Ecological Momentary Assessments; a Pilot Study. Unknown status NCT02282150 Phase 4 Hydrocortisone;Plenadren
47 A Study of the Utility of Botulinum Toxin Type A for Pain in Advanced Parkinson's Disease Double Blind Placebo Control Crossover Pilot Study Unknown status NCT02472210 Phase 4 Botulinum Toxin
48 The Effect of no Muscle Relaxant Versus Reduced-dose Rocuronium on the Anesthetic Condition With Fentanyl in Children Undergoing Adenotonsillectomy Unknown status NCT02467595 Phase 4 Rocuronium bromide 0.15 mg kg-1;Rocuronium bromide 0.3 mg kg-1;Fentanyl;Propofol;Sevoflurane
49 Acupuncture for Sedation in the Intensive Care Unit Unknown status NCT01362270 Phase 4
50 An Immunogenicity and Safety Study of Combined Adsorbed Tetanus, Low Dose Diphtheria and Acellular Pertussis Vaccine (Td5ap and Td1aP) Given as a School-leaving Booster to 14-15-year-old Children Primed With a Five Component Acellular Pertussis Vaccine at 3, 5 and 12 Months of Age, and a Booster Dose at 5½ Years of Age Unknown status NCT00870350 Phase 4

Search NIH Clinical Center for Ataxia with Vitamin E Deficiency

Genetic Tests for Ataxia with Vitamin E Deficiency

Genetic tests related to Ataxia with Vitamin E Deficiency:

# Genetic test Affiliating Genes
1 Ataxia with Vitamin E Deficiency 29 TTPA

Anatomical Context for Ataxia with Vitamin E Deficiency

MalaCards organs/tissues related to Ataxia with Vitamin E Deficiency:

40
Breast, Testes, Lung, Heart, Brain, Prostate, Bone

Publications for Ataxia with Vitamin E Deficiency

Articles related to Ataxia with Vitamin E Deficiency:

(show top 50) (show all 107)
# Title Authors PMID Year
1
Ataxia with Vitamin E Deficiency May Present with Cervical Dystonia. 61 24
27274910 2016
2
Ataxia with vitamin e deficiency in norway. 61 24
25614784 2015
3
Molecular, clinical and peripheral neuropathy study of Tunisian patients with ataxia with vitamin E deficiency. 61 24
24369383 2014
4
Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management. 61 24
19440741 2010
5
Ataxia with vitamin E deficiency associated with deafness. 61 24
19102053 2008
6
Biochemical consequences of heritable mutations in the alpha-tocopherol transfer protein. 61 24
16819822 2006
7
Vitamin E deficiency ataxia with (744 del A) mutation on alpha-TTP gene: genetic and clinical peculiarities in Moroccan patients. 61 24
15953402 2005
8
Prevalence of inherited ataxias in the province of Padua, Italy. 61 24
15297793 2004
9
Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families. 61 24
15300460 2004
10
Crystal structure of human alpha-tocopherol transfer protein bound to its ligand: implications for ataxia with vitamin E deficiency. 61 24
14657365 2003
11
Clinical comparison between AVED patients with 744 del A mutation and Friedreich ataxia with GAA expansion in 15 Moroccan families. 61 24
12039660 2002
12
Effect of vitamin E supplementation in patients with ataxia with vitamin E deficiency. 61 24
11554913 2001
13
Ataxia with vitamin E deficiency: biochemical effects of malcompliance with vitamin E therapy. 61 24
11094124 2000
14
Ataxia caused by mutations in the alpha-tocopherol transfer protein gene. 61 24
10896705 2000
15
Localization of alpha-tocopherol transfer protein in the brains of patients with ataxia with vitamin E deficiency and other oxidative stress related neurodegenerative disorders. 61 24
10082886 1999
16
Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families. 61 24
9463307 1998
17
Friedreich's ataxia with isolated vitamin E deficiency: a neuropathological study of a Tunisian patient. 61 24
9194904 1997
18
Vitamin E is essential for Purkinje neuron integrity. 24
24342566 2014
19
Vitamin E. 24
22585906 2012
20
Hepatic α-tocopherol transfer protein: ligand-induced protection from proteasomal degradation. 24
20828164 2010
21
Mechanisms of genetically-based resistance to malaria. 24
20655368 2010
22
Alpha-tocopherol transfer protein disruption confers resistance to malarial infection in mice. 24
20403155 2010
23
alpha-Tocopherol transfer protein inhibition is effective in the prevention of cerebral malaria in mice. 24
19923370 2010
24
Localization of alpha-tocopherol transfer protein in trophoblast, fetal capillaries' endothelium and amnion epithelium of human term placenta. 24
15190938 2004
25
Molecular determinants of heritable vitamin E deficiency. 24
15065857 2004
26
Mutations in a novel gene encoding a CRAL-TRIO domain cause human Cayman ataxia and ataxia/dystonia in the jittery mouse. 24
14556008 2003
27
The molecular basis of vitamin E retention: structure of human alpha-tocopherol transfer protein. 24
12899840 2003
28
Human placental trophoblast cells express alpha-tocopherol transfer protein. 24
12744919 2003
29
Incorporation of deuterated RRR- or all-rac-alpha-tocopherol in plasma and tissues of alpha-tocopherol transfer protein--null mice. 24
11864863 2002
30
Urinary alpha-tocopherol metabolites in alpha-tocopherol transfer protein-deficient patients. 24
11013295 2000
31
A novel human tocopherol-associated protein: cloning, in vitro expression, and characterization. 24
10829015 2000
32
Postmortem study of ataxia with retinitis pigmentosa by mutation of the alpha-tocopherol transfer protein gene. 24
10727494 2000
33
Vitamin E deficiency due to chylomicron retention disease in Marinesco-Sjögren syndrome. 24
10665502 2000
34
Treatment of ataxia in isolated vitamin E deficiency caused by alpha-tocopherol transfer protein deficiency. 24
9931538 1999
35
Localization of alpha-tocopherol transfer protein in rat brain. 24
9855364 1998
36
Crystal structure of the Saccharomyces cerevisiae phosphatidylinositol-transfer protein. 24
9461221 1998
37
Effect of plasma alpha-tocopherol on leukotriene E4 excretion in genetic vitamin E deficiency. 24
9266396 1997
38
Affinity for alpha-tocopherol transfer protein as a determinant of the biological activities of vitamin E analogs. 24
9199513 1997
39
Ataxia with isolated vitamin E deficiency in four siblings. 24
8972536 1996
40
Biodiscrimination of the eight alpha-tocopherol stereoisomers results in preferential accumulation of the four 2R forms in tissues and plasma of rats. 24
8857515 1996
41
The multidomain protein Trio binds the LAR transmembrane tyrosine phosphatase, contains a protein kinase domain, and has separate rac-specific and rho-specific guanine nucleotide exchange factor domains. 24
8643598 1996
42
Total radical trapping antioxidant potential (TRAP) and exercise. 24
8731567 1996
43
Human alpha-tocopherol transfer protein: gene structure and mutations in familial vitamin E deficiency. 24
8602747 1996
44
Monitoring of ubiquinol-10, ubiquinone-10, carotenoids, and tocopherols in neonatal plasma microsamples using high-performance liquid chromatography with coulometric electrochemical detection. 24
8747477 1995
45
Adult-onset spinocerebellar dysfunction caused by a mutation in the gene for the alpha-tocopherol-transfer protein. 24
7566022 1995
46
Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein. 24
7719340 1995
47
Familial isolated vitamin E deficiency. Extensive study of a large family with a 5-year therapeutic follow-up. 24
7474901 1995
48
Localization of Friedreich ataxia phenotype with selective vitamin E deficiency to chromosome 8q by homozygosity mapping. 24
8252047 1993
49
Primary structure of alpha-tocopherol transfer protein from rat liver. Homology with cellular retinaldehyde-binding protein. 24
8349655 1993
50
Impaired discrimination between stereoisomers of alpha-tocopherol in patients with familial isolated vitamin E deficiency. 24
8429255 1993

Variations for Ataxia with Vitamin E Deficiency

ClinVar genetic disease variations for Ataxia with Vitamin E Deficiency:

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# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TTPA NM_000370.3(TTPA):c.19del (p.Gln7fs)deletion Pathogenic 208623 rs760014795 8:63998562-63998562 8:63086003-63086003
2 TTPA NM_000370.3(TTPA):c.744del (p.Glu249fs)deletion Pathogenic 9136 rs397515377 8:63973904-63973904 8:63061345-63061345
3 TTPA NM_000370.3(TTPA):c.303T>G (p.His101Gln)SNV Pathogenic 9137 rs121917849 8:63985549-63985549 8:63072990-63072990
4 TTPA NM_000370.3(TTPA):c.513_514insTT (p.Thr172fs)insertion Pathogenic 9139 rs397515379 8:63978501-63978502 8:63065942-63065943
5 TTPA NM_000370.3(TTPA):c.421G>A (p.Glu141Lys)SNV Pathogenic 65592 rs397515524 8:63978594-63978594 8:63066035-63066035
6 TTPA NM_000370.3(TTPA):c.530_531delinsGTAAGT (p.Lys177fs)indel Pathogenic 65595 rs1554605631 8:63978484-63978485 8:63065925-63065926
7 TTPA NM_000370.3(TTPA):c.548T>C (p.Leu183Pro)SNV Pathogenic 65596 rs397515525 8:63978467-63978467 8:63065908-63065908
8 TTPA NM_000370.3(TTPA):c.191A>G (p.Asp64Gly)SNV Pathogenic 65590 rs397515523 8:63998390-63998390 8:63085831-63085831
9 TTPA NM_000370.3(TTPA):c.736G>C (p.Gly246Arg)SNV Pathogenic 65598 rs397515526 8:63973912-63973912 8:63061353-63061353
10 TTPA NM_000370.3(TTPA):c.552+2T>ASNV Pathogenic 267262 rs886040964 8:63978461-63978461 8:63065902-63065902
11 TTPA NM_000370.3(TTPA):c.205-1G>TSNV Pathogenic 267261 rs886040963 8:63985648-63985648 8:63073089-63073089
12 TTPA NM_000370.3(TTPA):c.487del (p.Trp163fs)deletion Pathogenic/Likely pathogenic 188951 rs397515378 8:63978528-63978528 8:63065969-63065969
13 TTPA NM_000370.3(TTPA):c.2T>C (p.Met1Thr)SNV Pathogenic/Likely pathogenic 189186 rs786204758 8:63998579-63998579 8:63086020-63086020
14 TTPA NM_000370.3(TTPA):c.400C>T (p.Arg134Ter)SNV Pathogenic/Likely pathogenic 9141 rs121917851 8:63978615-63978615 8:63066056-63066056
15 TTPA NM_000370.3(TTPA):c.575G>A (p.Arg192His)SNV Likely pathogenic 9140 rs121917850 8:63976853-63976853 8:63064294-63064294
16 TTPA NM_000370.3(TTPA):c.205-2A>GSNV Likely pathogenic 370950 rs758349851 8:63985649-63985649 8:63073090-63073090
17 TTPA NM_000370.3(TTPA):c.13C>T (p.Arg5Ter)SNV Likely pathogenic 370311 rs1008240677 8:63998568-63998568 8:63086009-63086009
18 TTPA NM_000370.3(TTPA):c.2T>A (p.Met1Lys)SNV Likely pathogenic 371454 rs786204758 8:63998579-63998579 8:63086020-63086020
19 TTPA NM_000370.3(TTPA):c.441del (p.Glu148fs)deletion Likely pathogenic 371663 rs1057517448 8:63978574-63978574 8:63066015-63066015
20 TTPA NM_000370.3(TTPA):c.313A>T (p.Arg105Ter)SNV Likely pathogenic 370354 rs1057516423 8:63985539-63985539 8:63072980-63072980
21 TTPA NM_000370.3(TTPA):c.205-1G>CSNV Likely pathogenic 370407 rs886040963 8:63985648-63985648 8:63073089-63073089
22 TTPA NM_000370.3(TTPA):c.552G>A (p.Thr184=)SNV Likely pathogenic 374211 rs181109321 8:63978463-63978463 8:63065904-63065904
23 TTPA NM_000370.3(TTPA):c.88_118del (p.Ala30fs)deletion Likely pathogenic 550204 rs1554525125 8:63998463-63998493 8:63085904-63085934
24 TTPA NM_000370.3(TTPA):c.83_105del (p.Leu28fs)deletion Likely pathogenic 558725 rs1554525128 8:63998476-63998498 8:63085917-63085939
25 TTPA NM_000370.3(TTPA):c.1A>T (p.Met1Leu)SNV Likely pathogenic 557555 rs1408863841 8:63998580-63998580 8:63086021-63086021
26 TTPA NM_000370.3(TTPA):c.557C>A (p.Ser186Ter)SNV Likely pathogenic 557235 rs1554605498 8:63976871-63976871 8:63064312-63064312
27 TTPA NM_000370.3(TTPA):c.227_229delinsATT (p.Trp76_Arg77delinsTyrTer)indel Likely pathogenic 551293 rs1554524061 8:63985623-63985625 8:63073064-63073066
28 TTPA NM_000370.3(TTPA):c.339del (p.Val114fs)deletion Likely pathogenic 633013 rs1563363293 8:63985513-63985513 8:63072954-63072954
29 TTPA NM_000370.3(TTPA):c.172G>C (p.Ala58Pro)SNV Likely pathogenic 802413 8:63998409-63998409 8:63085850-63085850
30 TTPA NM_000370.3(TTPA):c.358G>A (p.Ala120Thr)SNV Conflicting interpretations of pathogenicity 65591 rs143010236 8:63985494-63985494 8:63072935-63072935
31 TTPA NM_000370.3(TTPA):c.661C>T (p.Arg221Trp)SNV Conflicting interpretations of pathogenicity 65597 rs35916840 8:63976767-63976767 8:63064208-63064208
32 TTPA NM_000370.3(TTPA):c.175C>T (p.Arg59Trp)SNV Uncertain significance 65589 rs397515522 8:63998406-63998406 8:63085847-63085847
33 TTPA NM_000370.3(TTPA):c.*1368C>GSNV Uncertain significance 363538 rs553853197 8:63972443-63972443 8:63059884-63059884
34 TTPA NM_000370.3(TTPA):c.*1135T>CSNV Uncertain significance 363542 rs886063062 8:63972676-63972676 8:63060117-63060117
35 TTPA NM_000370.3(TTPA):c.*806C>TSNV Uncertain significance 363546 rs752352118 8:63973005-63973005 8:63060446-63060446
36 TTPA NM_000370.3(TTPA):c.*364A>TSNV Uncertain significance 363553 rs559345463 8:63973447-63973447 8:63060888-63060888
37 TTPA NM_000370.3(TTPA):c.663+10A>GSNV Uncertain significance 363559 rs374903020 8:63976755-63976755 8:63064196-63064196
38 TTPA NM_000370.3(TTPA):c.*1481_*1484delATAAshort repeat Uncertain significance 363534 rs773557348 8:63972327-63972330 8:63059768-63059771
39 TTPA NM_000370.3(TTPA):c.*1365A>CSNV Uncertain significance 363539 rs181348477 8:63972446-63972446 8:63059887-63059887
40 TTPA NM_000370.3(TTPA):c.*1441C>GSNV Uncertain significance 363535 rs553317836 8:63972370-63972370 8:63059811-63059811
41 TTPA NM_000370.3(TTPA):c.*1394A>GSNV Uncertain significance 363537 rs886063060 8:63972417-63972417 8:63059858-63059858
42 TTPA NM_000370.3(TTPA):c.*1164A>TSNV Uncertain significance 363541 rs886063061 8:63972647-63972647 8:63060088-63060088
43 TTPA NM_000370.3(TTPA):c.*934C>TSNV Uncertain significance 363544 rs776683493 8:63972877-63972877 8:63060318-63060318
44 TTPA NM_000370.3(TTPA):c.*932G>ASNV Uncertain significance 363545 rs547975805 8:63972879-63972879 8:63060320-63060320
45 TTPA NM_000370.3(TTPA):c.*578T>CSNV Uncertain significance 363550 rs886063065 8:63973233-63973233 8:63060674-63060674
46 TTPA NM_000370.3(TTPA):c.*452T>CSNV Uncertain significance 363552 rs886063066 8:63973359-63973359 8:63060800-63060800
47 TTPA NM_000370.3(TTPA):c.*286C>GSNV Uncertain significance 363555 rs886063068 8:63973525-63973525 8:63060966-63060966
48 TTPA NM_000370.3(TTPA):c.-1C>TSNV Uncertain significance 557866 rs1349901379 8:63998581-63998581 8:63086022-63086022
49 TTPA NM_000370.3(TTPA):c.807T>A (p.Tyr269Ter)SNV Uncertain significance 556573 rs1554605276 8:63973841-63973841 8:63061282-63061282
50 TTPA NM_000370.3(TTPA):c.552G>T (p.Thr184=)SNV Uncertain significance 557815 rs181109321 8:63978463-63978463 8:63065904-63065904

Expression for Ataxia with Vitamin E Deficiency

Search GEO for disease gene expression data for Ataxia with Vitamin E Deficiency.

Pathways for Ataxia with Vitamin E Deficiency

GO Terms for Ataxia with Vitamin E Deficiency

Sources for Ataxia with Vitamin E Deficiency

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