NEUROMYOPATHY AND VITAMIN E DEFICIENCY in MAN<sup>1</sup>

Burck, Uta; Goebel, Hans H.; Kuhlendahl, H; Meier, C; Goebel, K. M.

doi:10.1055/s-2008-1059657

Cited by 143 publications

(49 citation statements)

References 3 publications

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“…Whether symptomatic PEI may be triggered in certain circumstances, such as infection, concurrent to existing pre-disposing factors, remains a possible explanation for subacute development of symptoms as was the case here. It is possible the myopathic features on EMG may have been related to the vitamin D deficiency, although myopathy has also rarely been reported with vitamin E deficiency [5]. Also, it is possible the weakness presented by this patient was partly myopathic in origin and that the motor improvement relates predominantly to supplementation in vitamin D rather than vitamin E. Our patient showed, despite clinical improvement, no evidence of electrophysiological amelioration, in contrast to previous cases described.…”

Section: Discussioncontrasting

confidence: 55%

Severe but reversible neuropathy and encephalopathy due to vitamin E deficiency

Wysota

Michael

Hiew

et al. 2017

Clinical Neurology and Neurosurgery

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.Severe but reversible neuropathy and encephalopathy due to vitamin E deficiency.Clinical Neurology and Neurosurgery http://dx.doi.org/10. 1016/j.clineuro.2017.06.005 This is a PDF file of an unedited manuscript that has been accepted for publication. As a service to our customers we are providing this early version of the manuscript. The manuscript will undergo copyediting, typesetting, and review of the resulting proof before it is published in its final form. Please note that during the production process errors may be discovered which could affect the content, and all legal disclaimers that apply to the journal pertain.  We report a case of severe vitamin E deficiency due to pancreatic exocrine insufficiency  Vitamin E deficiency can produce sensory ataxic neuropathy and cognitive decline  Supplementation in high-dose vitamin E produced rapid significant improvement of neuropathy and cognition

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Section: Discussioncontrasting

confidence: 55%

Severe but reversible neuropathy and encephalopathy due to vitamin E deficiency

Wysota

Michael

Hiew

et al. 2017

Clinical Neurology and Neurosurgery

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“…Burck et al (1981) also reported a similar finding in a patient of vitamin E deficiency. This change resembles that induced by denervation (Parry and Montpetit 1978).…”

Section: Electron Microscopic Findingssupporting

confidence: 66%

Ultrastructural changes in skeletal muscle of a patient with familial intrahepatic cholestasis associated with vitamin E deficiency.

Kobayashi¹,

Tazawa

Nakagawa

et al. 1984

Tohoku J. Exp. Med.

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The skeletal muscle from a patient with familial intrahepatic cholestasis associated with vitamin E deficiency was studied by electron microscopy. The muscle fibers showed a variety of pathologic features including degenerative, necrotic and regenerative changes. Granule-like inclusions found in our biopsy specimens were similar in structure to those observed in vitamin E deficient animals. These inclusions were noted not only in the skeletal muscle fibers but also in endothelial cells of the intramuscular capillaries, Schwann cells and perineural cells. Disruption and disappearance of the plasma membrane, separation, disruption and pleats formation of the external lamina, and multilayered external laminae were observed in muscle fibers most frequently. The nerves among muscle fibers also showed degenerative features. These severely degenerative alterations of the muscle fiber have not so far been reported in vitamin E deficient patients. We discuss the process of cell damages caused by vitamin E deficiency. -vitamin E deficiency ; cholestasis ; inclusion body ; external lamina ; plasma membrane ; ultrastructure

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“…The authors describe a 12-year-old boy with progressive cerebellar ataxia and a low serum vitamin E level (Burck et al, 1981). Other cases were reported before 1993; Ben Hamida et al (1993) described eight new patients belonging to two Tunisian consanguineous families.…”

Section: Introductionmentioning

confidence: 98%

“…Ataxia with vitamin E deficiency (AVED) was first described by Burck et al (1981). The authors describe a 12-year-old boy with progressive cerebellar ataxia and a low serum vitamin E level (Burck et al, 1981).…”

Section: Introductionmentioning

confidence: 99%

Molecular, clinical and peripheral neuropathy study of Tunisian patients with ataxia with vitamin E deficiency

Euch-Fayache

Bouhlal

Amouri

et al. 2013

Brain

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Ataxia with vitamin E deficiency is an autosomal recessive cerebellar ataxia caused by mutations in the a-tocopherol transfer protein coding gene localized on chromosome 8q, leading to lower levels of serum vitamin E. More than 91 patients diagnosed with ataxia with vitamin E deficiency have been reported worldwide. The majority of cases originated in the Mediterranean region, and the 744delA was the most common mutation among the 22 mutants previously described. We examined the clinical and molecular features of a large cohort of 132 Tunisian patients affected with ataxia with vitamin E deficiency. Of these patients, nerve conduction studies were performed on 45, and nerve biopsy was performed on 13. Serum vitamin E was dramatically reduced for 105 of the patients analysed. Molecular analysis revealed that 91.7% of the patients (n = 121) were homozygous for the 744delA mutation. Three other mutations were detected among the remaining patients (8.3%, n = 11) in the homozygous state. Two were previously reported (400C4T and 205-1G4T), and one was novel (553 + 1T4A). Age of onset was 13.2 AE 5.9 years, with extremes of 2 and 37 years. All described patients exhibited persistent progressive cerebellar ataxia with generally absent tendon reflexes. Deep sensory disturbances, pyramidal syndrome and skeletal deformities were frequent. Head tremor was present in 40% of the patients. Absence of neuropathy or mild peripheral neuropathy was noted in more than half of the cohort. This is the largest study of the genetic, clinical and peripheral neuropathic characteristics in patients with ataxia and vitamin E deficiency. The 744delA mutation represents the most common pathological mutation in Tunisia and worldwide, likely because of a Mediterranean founder effect. Our study led us to suggest that any patient displaying an autosomal recessive cerebellar ataxia phenotype with absent tendon reflexes and minor nerve abnormalities should first be screened for the 744delA mutation, even in the absence of a serum vitamin E measurement.

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NEUROMYOPATHY AND VITAMIN E DEFICIENCY in MAN¹

Cited by 143 publications

References 3 publications

Severe but reversible neuropathy and encephalopathy due to vitamin E deficiency

Severe but reversible neuropathy and encephalopathy due to vitamin E deficiency

Ultrastructural changes in skeletal muscle of a patient with familial intrahepatic cholestasis associated with vitamin E deficiency.

Molecular, clinical and peripheral neuropathy study of Tunisian patients with ataxia with vitamin E deficiency

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NEUROMYOPATHY AND VITAMIN E DEFICIENCY in MAN1

Cited by 143 publications

References 3 publications

Severe but reversible neuropathy and encephalopathy due to vitamin E deficiency

Severe but reversible neuropathy and encephalopathy due to vitamin E deficiency

Ultrastructural changes in skeletal muscle of a patient with familial intrahepatic cholestasis associated with vitamin E deficiency.

Molecular, clinical and peripheral neuropathy study of Tunisian patients with ataxia with vitamin E deficiency

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NEUROMYOPATHY AND VITAMIN E DEFICIENCY in MAN¹