Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0004134 (ataxia)
 15,886 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Vitamin E is one of the most important lipid-soluble antioxidant nutrient. Severe vitamin E deficiency (VED) can have a profound effect on the central nervous system. VED causes ataxia and peripheral neuropathy that resembles Friedreich's ataxia. We report here a patient presenting this syndrome, but also a prolactin and FSH adenoma. Both the neurological syndromes and the adenoma regressed after treatment with alpha-tocopherol. Although, the presence of the prolactinoma in this patient may not be related to his vitamin E deficiency, alpha-tocopherol treatment seems to be beneficial and might usefully be tested in patients with hypophyseal secreting other forms of adenoma.
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PMID:Vitamin E deficiency ataxia associated with adenoma. 1006 78

Vitamin E (alpha-tocopherol) is an essential nutrient and an important antioxidant. Its plasma levels are dependent upon oral intake, absorption and transfer of the vitamin to a circulating lipoprotein. The latter step is controlled by alpha-tocopherol transfer protein (alpha-TTP), which is a 278 amino acid protein encoded on chromosome 8, known to be synthesized in the liver. Mutations in alpha-TTP are associated with a neurological syndrome of spinocerebellar ataxia, called ataxia with vitamin E deficiency (AVED). Earlier studies suggested that alpha-TTP is found only in the liver. In order to establish whether alpha-TTP is expressed in the human brain, and what relationship this has to AVED, we studied immunohistochemically the presence of alpha-TTP in the brains of a patient with AVED, normal subjects, and patients with Alzheimer's disease (AD), Down's syndrome (DS), cholestatic liver disease (CLD) and abetalipoproteinemia (ABL). The neuropathology of both AD and DS is thought to be related in part to oxidative stress. The diseases of AVED, of cholestatic liver disease, and of abetalipoproteinemia are thought to be due to lack of circulating tocopherol, leading to inadequate protection against oxidative damage. We demonstrate the presence of alpha-TTP in cerebellar Purkinje cells in patients having vitamin E deficiency states or diseases associated with oxidative stress.
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PMID:Localization of alpha-tocopherol transfer protein in the brains of patients with ataxia with vitamin E deficiency and other oxidative stress related neurodegenerative disorders. 1008 86

A case report is presented of an electrophysiologic recovery from vitamin E-deficient neuropathy after treatment with water-soluble vitamin E in a patient with chronic hepatobiliary disease. The patient was a 64-year-old man who had experienced progressive difficulty in ambulation, with ataxia, over the previous 3 years. The symptoms were associated with pain, tingling sensation in the extremities, and reduced fine motor activity. The patient had chronic hepatobiliary disease, with recurrent cholangitis and external drainage of bile acid through a T-tube for more than 20 years. Vitamin E level was barely detectable (<0.5 mg/L). Sensory conduction was absent in both sural nerves. Other sensory and motor conduction studies in the upper and lower extremities showed decreased amplitude. The patient was treated with water-soluble vitamin E. After 4 months of therapy, his ambulation function improved, but pain and tingling sensation in both hands remained. Sensory nerve action potentials appeared in both sural nerves, and amplitudes of other sensory nerves were increased. In a second follow-up study after 9 months, all of the evaluated parameters in the nerve conduction studies, as well as the vitamin E level, were normal. The authors conclude that vitamin E-deficient neuropathy is reversible and electrophysiologic recovery can occur with water-soluble vitamin E therapy.
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PMID:Electrophysiologic recovery after vitamin E-deficient neuropathy. 1045 75

The term vitamin E covers several related tocopherols and tocotrienols (alpha-, beta-, gamma-, delta-tocopherols and tocotrienols), which have been isolated from natural sources, but the most active of these is the alpha-form, Fig. 1). Vitamin E is an essential nutrient for higher animals including man. A daily recommended level of this vitamin has been established in 1989, and been revised in 1999. In man, a limited number of deficiency symptoms (Cerebella ataxia, Muscular weakness et. al.) have been noted in adults but only after prolonged impairment of fat absorption and genetic defects. The beneficial effects of this vitamin intake are reported by many studies.
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PMID:[Trend of vitamin E]. 1054 Aug 68

An improved understanding of its physiology has led to better therapeutic use of vitamin E in recent years. It is a physiological membrane bound antioxidant, protecting cell membrane lipids from oxidant damage by free redicals. Cholestatic liver disease, abetalipoproteinemia and ataxia with vitamin E deficiency are the common deficiency states where vitamin E is of definite therapeutic value, while reports of unproven benefits abound in literature. Vitamin E status of the body can be assessed by serum levels and various functional studies. The new water soluble form, tocopherol polyethylene glycol succinate (TPGS), is therapeutically superior to the standard oral forms available. Details of physiology and therapeutic application of the vitamin are discussed.
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PMID:Vitamin E updated. 1082 96

In this chapter; we have described the role of nutritional supplements or selective dietary restriction (or both) on the maintenance and function of the retina and nervous system in some diseases. Oral vitamin A therapy has proven to be effective in the treatment of the common forms of retinitis pigmentosa. Bassen-Kornzweig disease can be treated with vitamin A and vitamin E and, in some cases, with vitamin K. Vitamin E therapy for Friedreich-like ataxia associated with retinitis pigmentosa has been shown to be effective in the short term. Classic Refsum's disease responds to a low phytol-low phytanic acid diet. Undoubtedly, future research will bring more insight into the biochemical pathways responsible for other diseases and, it is hoped, aid in developing treatments for additional retinal degenerations associated with systemic neurological disease.
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PMID:Treatable forms of retinitis pigmentosa associated with systemic neurological disorders. 1119 37

Ataxia with vitamin E (Vit E) defciency (AVED) is an autosomal recessive disorder caused by mutations of the alpha tocopherol transfer protein gene. The Friedreich ataxia phenotype is the most frequent clinical presentation. In AVED patients, serum Vit E levels are very low in the absence of intestinal malabsorption. As Vit E is a major antioxidant agent, Vit E deficiency is supposed to be responsible for the pathological process. Twenty-four AVED patients were fully investigated (electromyography, nerve conduction velocity (NVC) studies, somatosensory evoked potentials, cerebral computed tomography scan, sural nerve biopsy, genetic studies) and supplemented with Vit E (800 mg daily) during a 1-year period. Clinical evaluation was mainly based on the Ataxia Rating Scale (ARS) for cerebellar ataxia assessment and serum Vit E levels were monitored. Serum Vit E levels normalized and ARS scores decreased moderately but significantly suggesting clinical improvement. Better results were noted with mean disease duration < or = 15 years. Reflexes remained abolished and posterior column disturbances unchanged. Vitamin E supplementation in AVED patients stabilizes the neurological signs and can lead to mild improvement of cerebellar ataxia, especially in early stages of the disease.
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PMID:Effect of vitamin E supplementation in patients with ataxia with vitamin E deficiency. 1155 13

A degenerative skeletal muscle disease with vascular, neurologic, and renal lesions and a probable familial distribution was identified in 4-20-month-old purebred Gelbvieh cattle. Thirteen affected animals were confirmed from 6 separate beef herds, with a mortality rate of 100%. Clinical signs in affected animals consisted of ataxia, weakness, and terminal recumbency. Gross and histologic muscle lesions were indicative of nutritional myopathy of ruminants, with a lack of myocardial lesions in most cases and only rare myocardial changes in a few animals. Acute to chronic lesions in most large skeletal muscle groups consisted of degeneration, necrosis, regeneration, fibrosis, and atrophy. Fibrinoid necrosis of arterioles was a common feature in multiple tissues. Lesions in the spinal cord white matter and peripheral nerves consisted of degeneration of the dorsal columns and axons, respectively. Changes in the kidneys consisted of chronic interstitial nephritis with fibrosis, hyaline droplet change and tubular epithelial vacuolar change and were most severe in the older calves. Intracytoplasmic myoglobin and iron were demonstrated within the hyaline droplets in degenerate renal cortical tubular epithelial cells. Vitamin E levels were deficient in most (6/7) of the animals tested. Investigation of the pedigree of affected animals revealed a common ancestry for all but 1 of the animals whose parentage could be traced. This investigation suggests that a hereditary metabolic defect, possibly involving antioxidant metabolism, could be responsible for this condition. Renal disease, possibly secondary to myoglobinuria, may be unique to this bovine condition.
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PMID:A familial degenerative neuromuscular disease of Gelbvieh cattle. 1193 35

Friedreich's ataxia (FRDA), the most common inherited ataxia, is an autosomal recessive degenerative disorder caused by a GAA triplet expansion or point mutations in the FRDA gene on chromosome 9q13. The FRDA gene product, frataxin, is a widely expressed mitochondrial protein, which is severely reduced in FRDA patients. The demonstration that deficit of frataxin in FRDA is associated with mitochondrial iron accumulation, increased sensitivity to oxidative stress, deficit of respiratory chain complex activities and in vivo impairment of cardiac and skeletal muscle tissue energy metabolism, has established FRDA as a "new" nuclear encoded mitochondrial disease. Pilot studies have shown the potential effect of antioxidant therapy based on idebenone or coenzyme Q10 plus Vitamin E administration in this condition and provide a strong rationale for designing larger randomized clinical trials.
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PMID:Mitochondrial dysfunction in Friedreich's ataxia: from pathogenesis to treatment perspectives. 1206 11

We describe a young patient affected by vitamin E deficiency with mutation in the tocopherol transfer protein alleles and the unique presentation as myoclonic dystonia, which was practically the only symptom for 6 years before ataxia became evident. Vitamin E supplementation markedly improved both symptoms. This unusual clinical phenotype must be considered, because isolated vitamin E deficiency is eminently treatable.
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PMID:Myoclonic dystonia as unique presentation of isolated vitamin E deficiency in a young patient. 1211 20


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