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E Deficiency (e + deficiency)
Kinds of E Deficiency Selected AbstractsCoenzyme Q10 and vitamin E deficiency in Friedreich's ataxia: predictor of efficacy of vitamin E and coenzyme Q10 therapyEUROPEAN JOURNAL OF NEUROLOGY, Issue 12 2008J. M. Cooper Background and purpose:, A pilot study of high dose coenzyme Q10 (CoQ10)/vitamin E therapy in Friedreich's ataxia (FRDA) patients resulted in significant clinical improvements in most patients. This study investigated the potential for this treatment to modify clinical progression in FRDA in a randomized double blind trial. Methods:, Fifty FRDA patients were randomly divided into high or low dose CoQ10/ vitamin E groups. The change in International Co-operative Ataxia Ratings Scale (ICARS) was assessed over 2 years as the primary end-point. A post hoc analysis was made using cross-sectional data. Results:, At baseline serum CoQ10 and vitamin E levels were significantly decreased in the FRDA patients (P < 0.001). During the trial CoQ10 and vitamin E levels significantly increased in both groups (P < 0.01). The primary and secondary end-points were not significantly different between the therapy groups. When compared to cross-sectional data 49% of all patients demonstrated improved ICARS scores. This responder group had significantly lower baseline serum CoQ10 levels. Conclusions:, A high proportion of FRDA patients have a decreased serum CoQ10 level which was the best predictor of a positive clinical response to CoQ10/vitamin E therapy. Low and high dose CoQ10/vitamin E therapies were equally effective in improving ICARS scores. [source] Effect of vitamin E supplementation in patients with ataxia with vitamin E deficiencyEUROPEAN JOURNAL OF NEUROLOGY, Issue 5 2001S. Gabsi Ataxia with vitamin E (Vit E) defciency (AVED) is an autosomal recessive disorder caused by mutations of the , 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 , 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. [source] pH-dependent translocation of ,-tocopherol transfer protein (,-TTP) between hepatic cytosol and late endosomesGENES TO CELLS, Issue 10 2003Masakuni Horiguchi Background:, ,-Tocopherol transfer protein (,-TTP), a member of the Sec14 protein family, plays an important role in transporting ,-tocopherol, a major lipid-soluble anti-oxidant, in the cytosolic compartment of hepatocytes and is known as a product of the causative gene for familial isolated vitamin E deficiency. It has been shown that the secretion of hepatocyte ,-tocopherol taken up with plasma lipoproteins is facilitated by ,-TTP. To explore the mechanism of ,-TTP mediated ,-tocopherol secretion, we investigated drugs which may affect this secretion. Results:, We found that, in a hepatocyte cell culture system, intracellular ,-tocopherol transport is impaired by chloroquine, an agent known for its function of elevating the pH in acidic compartments. Under chloroquine treatment, the diffuse cytosolic distribution of ,-TTP changes to a punctate pattern. Double-staining experiments with endocytosis markers revealed that ,-TTP accumulates transiently on the cytoplasmic surface of late endosomal membranes. This phenomenon is specific for hepatoma cell lines or primarily cultured hepatocytes. Other members of the Sec14 family, such as cellular retinaldehyde-binding protein (CRALBP) and supernatant protein factor (SPF), do not show this accumulation. Furthermore, we elucidate that the obligatory amino acid sequence for this function is located between amino acids 21 and 50, upstream of the N-terminal end of the lipid-binding domain. Conclusion:, We hypothesize that a liver-specific target molecule for ,-TTP exists on the late endosomal membrane surface. This transient binding may explain the mechanism of how ,-tocopherol is transferred from late endosomes to cytosolic ,-TTP. [source] ,-tocopherol, an exogenous factor of adult hippocampal neurogenesis regulationJOURNAL OF NEUROSCIENCE RESEARCH, Issue 4 2003Tiziana Cecchini Abstract In previous work, we found that adult hippocampal neurogenesis in rat is affected by vitamin E deficiency. Because vitamin E deficiency is a complex condition involving numerous biological systems, it is possible that its effect on postnatal new neuron production could be mediated by unknown changes in different factors that in turn play a role in this process. To clarify if vitamin E plays a direct role in regulating hippocampal neurogenesis, we studied the neurogenesis in adult control rats and in adult rats under supplementation with ,-tocopherol, the most important compound of vitamin E. The ,-tocopherol level in control and supplemented rats was monitored. Qualitative and quantitative analysis of cell proliferation and death was carried out and expression of immature neuron markers PSA-NCAM, TUC 4, and DCX was investigated in hippocampus dentate gyrus. ,-Tocopherol levels increased significantly in both plasma and brain after supplementation. Cell proliferation was inhibited in ,-tocopherol-supplemented rats, the number of dying cells was reduced, and the number of cells expressing the immature neuron markers was increased. The results obtained confirm and extend the idea that vitamin E is an exogenous factor playing a direct role in regulation of different steps of adult hippocampal neurogenesis. Some hypotheses about the possible mechanisms underlying the complex action of ,-tocopherol, related to its antioxidant and molecule-specific non-antioxidant properties, are proposed and discussed. © 2003 Wiley-Liss, Inc. [source] Ataxia with isolated vitamin E deficiency: A clinical, biochemical and genetic diagnosisJOURNAL OF PAEDIATRICS AND CHILD HEALTH, Issue 5 2000G Alex Abstract: A case of ataxia with isolated vitamin E deficiency, in conjunction with supportive genetic studies, is reported. This is a neurodegenerative condition that involves a mutation in the tocopherol (,) transfer protein gene (TTPA). Measurement of serum vitamin E concentration should be included as part of the investigations in children with progressive ataxia, even in the absence of fat malabsorption. Early treatment with vitamin E may protect such patients against further neurological damage. [source] CLINICAL, MRI, AND SKIN BIOPSY FINDINGS IN SENSORY GANGLIONOPATHIESJOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, Issue 1 2000A. Sghirlanzoni Unlike peripheral motor disorders, sensory disturbances are rarely diagnosed by the probable site of pathology. This approach is useful in the differential diagnosis between chronic sensory axonal neuropathies and ganglionopathies, in which routine clinical and neurophysiological evaluation alone often do not provide definite clues. Methods: Thirty patients with peripheral sensory disturbances were investigated. MRI was performed at cervical level in all cases. Four patients also underwent thoracic and lumbar MRI. Seventeen patients underwent skin biopsy at the proximal thigh and the distal leg. In 4 of them, further skin biopsies were taken at C5 dermatome and at the hand. Density of intra-epidermal nerve fibers (IENF) was quantified. Results: In 22 patients, sensory ganglionopathy was suspected. Disease was idiopathic in 7 cases; paraneoplastic in 3 cases; and associated with Sjögren, AIDS, autoimmune chronic hepatitis, and cisplatin neurotoxicity in 4 cases. One patient had a hereditary sensory autonomic neuropathy. Four patients had vitamin E deficiency and 3 patients a spinocerebellar syndrome. In 8 patients, sensory axonal neuropathy related to diabetes, alcoholism, and AIDS on antiretroviral treatment, and monoclonal gammopathy of undetermined significance was diagnosed. MRI findings: All ganglionopathy patients showed posterior columns hyperintensity on T2-weighted MRI. Conversely, MRI was negative in all axonal sensory neuropathy patients. Skin biopsy findings: In neuropathies, IENF density was significantly lower at the distal leg than at the proximal thigh, while ganglionopathies did not show any change with respect to the rostral:caudal orientation. A similar pattern of epidermal denervation was observed in the arm. Discussion: The degeneration of both central and peripheral sensory pathway in a fashion that is not length-dependent localizes the disease to T-shaped sensory neurons Early ataxia and cutaneous sensory symptoms involving the proximal regions of the body reflect this pattern of denervation and should prompt the diagnosis of ganglionopathy. This can be confirmed by T2-weighted hyperintensity in the posterior columns and a distinct pattern of IENF loss. [source] Isolated vitamin E deficiency with demyelinating neuropathyMUSCLE AND NERVE, Issue 2 2005Vinod Puri MD Abstract A 22-year-old man, with a past history of generalized tonic-clonic seizures treated with phenobarbital, presented with spinocerebellar ataxia. The electrophysiological studies revealed a demyelinating motor-sensory neuropathy. The serum vitamin E level was low. Sural nerve biopsy revealed loss of large myelinated fibers with evidence of remyelination. Vitamin E supplementation led to clinical and electrophysiological recovery of sensory conduction and evoked potentials. Motor nerve conduction, however, showed only partial recovery. Vitamin E deficiency leading to a demyelinating neuropathy, as in the present case, suggests that the full spectrum of the disease entity is not fully defined. Muscle Nerve, 2005 [source] Ataxia with vitamin E deficiency in southeast Norway, case reportACTA NEUROLOGICA SCANDINAVICA, Issue 2009J. Koht Background,, Ataxia with vitamin E deficiency (AVED) is a rare cause of hereditary ataxia in north European countries with unknown prevalence. Few cases are reported from these countries. Methods ,Through a systematic population based study of hereditary ataxia in southeast Norway subjects were classified and investigated. Aims , To report a subject with ataxia due to vitamin E deficiency in Norway. Results , One patient with AVED was identified. The subject was a 45 years old woman with progressive ataxia from preschool age. When she was 12 years old Friedreich's ataxia was diagnosed after neurological examination. At the age of 45 re-evaluation and re-examination was performed and genetic analysis of the Frataxin gene was negative. At that time she had truncal and extremities ataxia, titubation of the head, pes cavus, inverted plantar response, loss of proprioceptive and vibration sense and a severe sensory neuropathy. Vitamin E in serum was undetectable and genetic analysis detected a compound heterozygous mutation, p.A120T and p.R134X, in the ,-tocopherol transport protein gene on chromosome 8q13. Discussion , Vitamin E should always be assessed in progressive ataxia of genetic or unexplained causes and especially with a Friedreich's ataxia-like phenotype since treatment is available. Conclusion,, AVED is rare in Norway, but exists, and we here report the first genetically confirmed subject with ataxia due to vitamin E deficiency in Norway. [source] | |||||||||||||