Epilepsy in a patient with ataxia caused by vitamin E deficiency
Ataxia due to vitamin E deficiency is important because disease progression can be stopped by supplementary therapy. A limited number of studies and case series suggest that the disease is mainly confined to the cerebellum and spinal cord tract and seems to be more common in North African countries....
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fthighwire:oai:open-archive.highwire.org:casereports:2011/apr27_1/bcr0120113728 2023-05-15T17:39:21+02:00 Epilepsy in a patient with ataxia caused by vitamin E deficiency Müller, Kai Ivar Bekkelund, Svein Ivar 2011-05-03 00:00:00.0 text/html http://casereports.bmj.com/cgi/content/short/2011/apr27_1/bcr0120113728 https://doi.org/10.1136/bcr.01.2011.3728 en eng BMJ Publishing Group Ltd http://casereports.bmj.com/cgi/content/short/2011/apr27_1/bcr0120113728 http://dx.doi.org/10.1136/bcr.01.2011.3728 Copyright (C) 2011, BMJ Publishing Group Ltd case-report TEXT 2011 fthighwire https://doi.org/10.1136/bcr.01.2011.3728 2015-02-28T15:23:30Z Ataxia due to vitamin E deficiency is important because disease progression can be stopped by supplementary therapy. A limited number of studies and case series suggest that the disease is mainly confined to the cerebellum and spinal cord tract and seems to be more common in North African countries. We report a patient from North Norway with progressive ataxia from the age of 5, bilateral dropfoot, Babinski’s sign, dysarthria and early epilepsy. Two mutations, 513insTT and p.Arg134x, were detected. When treatment was initiated 25 years after onset of symptoms, the patient was bound to the wheel chair. No further progression of pareses, ataxia or epileptic seizures has been observed in a 3-year follow-up period. This case indicates that cerebral involvement may be present in patients with a lack of vitamin E. If this observation is confirmed, a further exploration of clinical presentation, anatomic involvement and geographic distribution of the disease is warranted. Text North Norway HighWire Press (Stanford University) Norway Case Reports 2011 apr27 1 bcr0120113728 bcr0120113728 |
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HighWire Press (Stanford University) |
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English |
topic |
case-report |
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case-report Müller, Kai Ivar Bekkelund, Svein Ivar Epilepsy in a patient with ataxia caused by vitamin E deficiency |
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case-report |
description |
Ataxia due to vitamin E deficiency is important because disease progression can be stopped by supplementary therapy. A limited number of studies and case series suggest that the disease is mainly confined to the cerebellum and spinal cord tract and seems to be more common in North African countries. We report a patient from North Norway with progressive ataxia from the age of 5, bilateral dropfoot, Babinski’s sign, dysarthria and early epilepsy. Two mutations, 513insTT and p.Arg134x, were detected. When treatment was initiated 25 years after onset of symptoms, the patient was bound to the wheel chair. No further progression of pareses, ataxia or epileptic seizures has been observed in a 3-year follow-up period. This case indicates that cerebral involvement may be present in patients with a lack of vitamin E. If this observation is confirmed, a further exploration of clinical presentation, anatomic involvement and geographic distribution of the disease is warranted. |
format |
Text |
author |
Müller, Kai Ivar Bekkelund, Svein Ivar |
author_facet |
Müller, Kai Ivar Bekkelund, Svein Ivar |
author_sort |
Müller, Kai Ivar |
title |
Epilepsy in a patient with ataxia caused by vitamin E deficiency |
title_short |
Epilepsy in a patient with ataxia caused by vitamin E deficiency |
title_full |
Epilepsy in a patient with ataxia caused by vitamin E deficiency |
title_fullStr |
Epilepsy in a patient with ataxia caused by vitamin E deficiency |
title_full_unstemmed |
Epilepsy in a patient with ataxia caused by vitamin E deficiency |
title_sort |
epilepsy in a patient with ataxia caused by vitamin e deficiency |
publisher |
BMJ Publishing Group Ltd |
publishDate |
2011 |
url |
http://casereports.bmj.com/cgi/content/short/2011/apr27_1/bcr0120113728 https://doi.org/10.1136/bcr.01.2011.3728 |
geographic |
Norway |
geographic_facet |
Norway |
genre |
North Norway |
genre_facet |
North Norway |
op_relation |
http://casereports.bmj.com/cgi/content/short/2011/apr27_1/bcr0120113728 http://dx.doi.org/10.1136/bcr.01.2011.3728 |
op_rights |
Copyright (C) 2011, BMJ Publishing Group Ltd |
op_doi |
https://doi.org/10.1136/bcr.01.2011.3728 |
container_title |
Case Reports |
container_volume |
2011 |
container_issue |
apr27 1 |
container_start_page |
bcr0120113728 |
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bcr0120113728 |
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1766140117123072000 |