Ataxia with vitamin E deficiency

Also Known As:

Ataxia with isolated vitamin E deficiency; Ataxia, Friedreich-Like, with Selective Vitamin E Deficiency; Familial Isolated Vitamin E Deficiency; Familial isolated deficiency of vitamin E; Friedreich Ataxia Phenotype with Selective Vitamin E Deficiency; Friedreich-Like Ataxia; Friedreich-like ataxia with selective vitamin E deficiency; Vitamin E, Familial Isolated Deficiency of

Networked: 72 relevant articles (3 outcomes, 0 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Retinitis Pigmentosa (Pigmentary Retinopathy)
2.	Ataxia (Dyssynergia)
3.	Neurodegenerative Diseases (Neurodegenerative Disease)
4.	Vitamin E Deficiency
5.	Friedreich Ataxia (Friedreich's Ataxia)

Experts

1.	Arai, Hiroyuki: 3 articles (11/2021 - 10/2003)
2.	Azzi, Angelo: 3 articles (01/2019 - 01/2012)
3.	Atkinson, Jeffrey: 3 articles (01/2012 - 07/2006)
4.	Manor, Danny: 3 articles (01/2012 - 07/2006)
5.	Zingg, Jean-Marc: 2 articles (01/2012 - 10/2007)
6.	Espinós, Carmen: 2 articles (09/2008 - 11/2006)
7.	Palau, Francesc: 2 articles (09/2008 - 11/2006)
8.	Stocker, Achim: 2 articles (12/2004 - 08/2003)
9.	Ammar, Marwa: 1 article (12/2021)
10.	Bouchaala, Wafa: 1 article (12/2021)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Ataxia with vitamin E deficiency:

1.	Vitamin E FDA LinkGeneric 01/01/2021 - "As the symptoms of ataxia with vitamin E deficiency can be alleviated with lifelong vitamin E administration, differential diagnosis from similar syndromes is important. " 09/01/2008 - "In ataxia with isolated vitamin E deficiency, the biochemical hallmark is the low plasmatic levels of vitamin E and, in most of the patients, vitamin E supplementation allows a stabilization of the neurologic conditions. " 07/01/2006 - "Efficacious vitamin E treatment in a child with ataxia with isolated vitamin E deficiency." 09/01/2001 - "Effect of vitamin E supplementation in patients with ataxia with vitamin E deficiency." 11/28/2000 - "To prevent neuronal damage, patients with ataxia with isolated vitamin E deficiency need lifelong supplementation with high doses of vitamin E. "
2.	alpha-tocopherol transfer proteinIBA 01/01/2016 - "Ataxia with isolated vitamin E deficiency (AVED) is a rare autosomal recessive condition that is caused by a mutation in the alpha tocopherol transfer protein gene. " 09/01/2008 - "A novel delins mutation in the alpha-TTP gene in a family segregating ataxia with isolated vitamin E deficiency." 03/27/2008 - "Ataxia with vitamin E deficiency is caused by mutations in alpha-tocopherol transfer protein (alpha-TTP) gene and it can be experimentally generated in mice by alpha-TTP gene inactivation (alpha-TTP-KO). " 01/01/2003 - "Therefore, we analyzed the expression and the nucleotide sequence of the canine alpha-tocopherol transfer protein (alpha Ttp) of German shepherd dogs with DM in order to determine whether a deficiency or a defect of the alpha Ttp could be a primary factor in the pathogenesis of DM, as found in human patients with Ataxia with vitamin E deficiency (AVED). " 06/15/2002 - "Seven families (13 patients) had the 744 del A mutation in the alpha-tocopherol transfer protein (alpha-TTP) gene, characteristic of ataxia with vitamin E deficiency (AVED). "
3.	coenzyme Q10 (CoQ10)IBA 01/01/2003 - "Vitamin E therapy has been shown to be beneficial in patients with ataxia with vitamin E deficiency, and CoQ10 therapy was effective in some patients with ataxia associated with CoQ10 deficiency. " 01/01/2018 - "Testing for vitamin E (for ataxia with isolated vitamin E deficiency) and alpha fetoprotein (for Ataxia Telangiectasia or AT) are important, as is empiric treatment with coenzyme Q10 for those genetic abnormalities that can lead to coenzyme Q deficiency. "
4.	Proteins (Proteins, Gene)FDA Link 01/01/2012 - "A congenital disease, ataxia with vitamin E deficiency, which is characterized by impaired enrichment of α-tocopherol (αT) in plasma due to mutations in the α-tocopherol transfer protein gene, has been discovered. " 03/01/1998 - "Ataxia with vitamin E deficiency is an autosomal recessive condition associated with a defect in the a-tocopherol transfer protein. " 12/01/2016 - "Equine neuroaxonal dystrophy (eNAD) has similar histologic lesions to human ataxia with vitamin E deficiency caused by mutations in the α-TOH transfer protein gene (TTPA). " 06/18/2013 - "Structural consequences of mutations to the α-tocopherol transfer protein associated with the neurodegenerative disease ataxia with vitamin E deficiency." 10/01/2007 - "Research over the last 30 years has also resolved the biosynthesis and occurrence of vitamin E in plants, the proteins involved in the cellular uptake, tissue distribution and metabolism, and defined a congenital recessive neurological disease, ataxia with vitamin E deficiency (AVED), characterized by impaired enrichment of alpha-tocopherol in plasma as a result of mutations in the liver alpha-tocopherol transfer gene. "
5.	Tissue Plasminogen Activator (Alteplase)FDA Link 01/01/2021 - "Pearls & Oy-sters: A Novel Presentation of Ataxia With Vitamin E Deficiency Caused by TTPA Gene Mutation." 07/01/2004 - "Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families." 08/01/2010 - "Ataxia with vitamin E deficiency (AVED) is a rare autosomal recessive neurodegenerative disease, due to mutations in TTPA gene (Arita et al. in Biochem J 306(Pt. " 10/15/2014 - "Retinitis pigmentosa and macular degeneration in a patient with ataxia with isolated vitamin E deficiency with a novel c.717 del C mutation in the TTPA gene." 01/01/2007 - "Heritable mutations in the ttpA gene cause ataxia with vitamin E deficiency (AVED), an autosomal recessive disorder characterized by low plasma vitamin E levels and progressive neurodegeneration. "
6.	Tocopherols (Tocopherol)IBA 01/01/2012 - "A congenital disease, ataxia with vitamin E deficiency, which is characterized by impaired enrichment of α-tocopherol (αT) in plasma due to mutations in the α-tocopherol transfer protein gene, has been discovered. " 03/01/1998 - "Ataxia with vitamin E deficiency is an autosomal recessive condition associated with a defect in the a-tocopherol transfer protein. " 10/11/1994 - "In three nondiscriminator patients with familial isolated vitamin E deficiency, the fractional disappearance rates (mean +/- SD) of deuterium-labeled RRR- and SRR-alpha-tocopherols in plasma were 1.4 +/- 0.6 and 1.3 +/- 0.3 pools per day, respectively (difference, 0.1 +/- 0.3). " 01/01/2019 - "α-Tocopherol is the only tocopherol that has been shown to prevent the human deficiency disease Ataxia with Isolated Vitamin E Deficiency (AVED), and thus it is the only one that, for humans, can be called vitamin E. " 06/18/2013 - "Structural consequences of mutations to the α-tocopherol transfer protein associated with the neurodegenerative disease ataxia with vitamin E deficiency."
7.	alpha-Tocopherol FDA Link 02/01/1993 - "Impaired discrimination between stereoisomers of alpha-tocopherol in patients with familial isolated vitamin E deficiency." 05/01/2010 - "alpha-Tocopherol transfer protein (alpha-TTP), the product of the gene responsible for familial isolated vitamin E deficiency, plays an important role in maintaining the plasma alpha-tocopherol level by mediating the secretion of alpha-tocopherol by the liver. " 08/15/2003 - "Mutations in the alpha-TTP gene have been detected in patients suffering from low plasma alpha-tocopherol and ataxia with isolated vitamin E deficiency (AVED). " 07/01/1996 - "We studied oxidation of plasma and LDL isolated from healthy donors or from a patient with familial isolated vitamin E deficiency and supplemented with alpha-tocopherol in vivo or in vitro. " 02/01/1993 - "We assessed whether patients with familial isolated vitamin E deficiency could discriminate between natural (RRR-) and synthetic (SRR-) stereoisomers of alpha-tocopherol labeled with six (d6) or three (d3) deuterium atoms, respectively. "
8.	thiamine triphosphorate (TTP)IBA 06/18/2013 - "Mutations to the α-TTP gene are associated with ataxia with vitamin E deficiency, a disease characterized by peripheral nerve degeneration. " 11/20/2021 - "Familial vitamin E deficiency, also called Ataxia with vitamin E deficiency, is caused by mutations in the α-TTP gene. " 07/11/2006 - "Heritable mutations in the ttpA gene, encoding for TTP, result in ataxia with vitamin E deficiency (AVED) syndrome, typified by low vitamin E levels and a plethora of neurological disorders. " 01/01/2012 - "The hepatic α-tocopherol transfer protein (TTP) is required for optimal α-tocopherol bioavailability in humans; mutations in the human TTPA gene result in the heritable disorder ataxia with vitamin E deficiency (AVED, OMIM #277460). "
9.	VitaminsIBA 01/01/2019 - "In fact, the name "vitamin E″ should only be used to define molecules that prevent the human deficiency disease "Ataxia with Vitamin E Deficiency" (AVED). " 01/01/1997 - "Similarly, dietary supplementation with alpha-TOH restored the vitamin content and oxidizability of the in vivo alpha-TOH-depleted lipoproteins and plasma obtained from a patient with familial isolated vitamin E deficiency. " 09/01/2022 - "The major metabolic and genetic treatable ataxic disorders include ataxia with vitamin E deficiency, abetalipoproteinemia, cerebrotendinous xanthomatosis, Niemann-Pick disease type C, autosomal recessive cerebellar ataxia due to coenzyme Q10 deficiency, glucose transporter type 1 deficiency, and episodic ataxia type 2. The treatment of these disorders includes the replacement of deficient cofactors and vitamins, dietary modifications, and other specific treatments. "
10.	Lipoproteins (Lipoprotein)IBA 01/01/1997 - "Similarly, dietary supplementation with alpha-TOH restored the vitamin content and oxidizability of the in vivo alpha-TOH-depleted lipoproteins and plasma obtained from a patient with familial isolated vitamin E deficiency. " 02/01/1990 - "Impaired ability of patients with familial isolated vitamin E deficiency to incorporate alpha-tocopherol into lipoproteins secreted by the liver." 05/01/2000 - "Diseases accompanied by oxidation of lipoproteins, such as atherosclerosis, Alzheimer disease, glomerulosclerosis, ataxia with vitamin E deficiency, and possibly age-dependent lipofuscin deposition, may share a common pathogenetic feature. " 02/01/1990 - "Plasma and lipoprotein alpha-tocopherol concentrations of four patients with familial isolated vitamin E deficiency and six control subjects were observed for 4 d after an oral dose (approximately 15 mg) of RRR-alpha-tocopheryl acetate labeled with six deuterium atoms (d6-tocopherol). "

Therapies and Procedures

1.	Therapeutics 11/28/2000 - "Ataxia with vitamin E deficiency: biochemical effects of malcompliance with vitamin E therapy." 01/01/2001 - "Vitamin E therapy for Friedreich-like ataxia associated with retinitis pigmentosa has been shown to be effective in the short term. " 01/01/2003 - "Vitamin E therapy has been shown to be beneficial in patients with ataxia with vitamin E deficiency, and CoQ10 therapy was effective in some patients with ataxia associated with CoQ10 deficiency. " 08/01/2019 - "Some disease-specific therapies for ataxia exist, such as vitamin E for ataxia with vitamin E deficiency and thiamine for Wernicke encephalopathy, highlighting the importance of recognizing these forms of ataxia. "
2.	Diet Therapy (Therapy, Diet) 09/01/2022 - "The major metabolic and genetic treatable ataxic disorders include ataxia with vitamin E deficiency, abetalipoproteinemia, cerebrotendinous xanthomatosis, Niemann-Pick disease type C, autosomal recessive cerebellar ataxia due to coenzyme Q10 deficiency, glucose transporter type 1 deficiency, and episodic ataxia type 2. The treatment of these disorders includes the replacement of deficient cofactors and vitamins, dietary modifications, and other specific treatments. "