Deep Brain Stimulation for the Treatment of Tremor and Ataxia Associated with Abetalipoproteinemia

BACKGROUND: Abetalipoproteinemia is a rare disorder of fat absorption, characterized by vitamin deficiency, acanthocytosis, and neurologic symptoms including ataxia and tremor. CASE REPORT: A 41-year-old male with abetalipoproteinemia is presented. He underwent staged bilateral thalamic deep brain s...

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Autores principales: Mammis, Antonios, Pourfar, Michael, Feigin, Andrew, Mogilner, Alon Y.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Columbia University Libraries/Information Services 2012
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3569962/
https://www.ncbi.nlm.nih.gov/pubmed/23440258
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author Mammis, Antonios
Pourfar, Michael
Feigin, Andrew
Mogilner, Alon Y.
author_facet Mammis, Antonios
Pourfar, Michael
Feigin, Andrew
Mogilner, Alon Y.
author_sort Mammis, Antonios
collection PubMed
description BACKGROUND: Abetalipoproteinemia is a rare disorder of fat absorption, characterized by vitamin deficiency, acanthocytosis, and neurologic symptoms including ataxia and tremor. CASE REPORT: A 41-year-old male with abetalipoproteinemia is presented. He underwent staged bilateral thalamic deep brain stimulation (DBS) for the treatment of his tremors. After DBS, the patient achieved significant improvements in his tremors, ataxia, and quality of life. DISCUSSION: Thalamic DBS proved to be both safe and efficacious in the management of ataxia and tremors in a patient with abetalipoproteinemia. This is the first report of DBS in abetalipoproteinemia in the literature.
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spelling pubmed-35699622013-02-25 Deep Brain Stimulation for the Treatment of Tremor and Ataxia Associated with Abetalipoproteinemia Mammis, Antonios Pourfar, Michael Feigin, Andrew Mogilner, Alon Y. Tremor Other Hyperkinet Mov (N Y) Case Report BACKGROUND: Abetalipoproteinemia is a rare disorder of fat absorption, characterized by vitamin deficiency, acanthocytosis, and neurologic symptoms including ataxia and tremor. CASE REPORT: A 41-year-old male with abetalipoproteinemia is presented. He underwent staged bilateral thalamic deep brain stimulation (DBS) for the treatment of his tremors. After DBS, the patient achieved significant improvements in his tremors, ataxia, and quality of life. DISCUSSION: Thalamic DBS proved to be both safe and efficacious in the management of ataxia and tremors in a patient with abetalipoproteinemia. This is the first report of DBS in abetalipoproteinemia in the literature. Columbia University Libraries/Information Services 2012-07-02 /pmc/articles/PMC3569962/ /pubmed/23440258 Text en http://creativecommons.org/licenses/by-nc-nd/3.0/us/ This is an open-access article distributed under the terms of the Creative Commons Attribution–Noncommerical–No Derivatives License, which permits the user to copy, distribute, and transmit the work provided that the original author and source are credited; that no commercial use is made of the work; and that the work is not altered or transformed.
spellingShingle Case Report
Mammis, Antonios
Pourfar, Michael
Feigin, Andrew
Mogilner, Alon Y.
Deep Brain Stimulation for the Treatment of Tremor and Ataxia Associated with Abetalipoproteinemia
title Deep Brain Stimulation for the Treatment of Tremor and Ataxia Associated with Abetalipoproteinemia
title_full Deep Brain Stimulation for the Treatment of Tremor and Ataxia Associated with Abetalipoproteinemia
title_fullStr Deep Brain Stimulation for the Treatment of Tremor and Ataxia Associated with Abetalipoproteinemia
title_full_unstemmed Deep Brain Stimulation for the Treatment of Tremor and Ataxia Associated with Abetalipoproteinemia
title_short Deep Brain Stimulation for the Treatment of Tremor and Ataxia Associated with Abetalipoproteinemia
title_sort deep brain stimulation for the treatment of tremor and ataxia associated with abetalipoproteinemia
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3569962/
https://www.ncbi.nlm.nih.gov/pubmed/23440258
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AT feiginandrew deepbrainstimulationforthetreatmentoftremorandataxiaassociatedwithabetalipoproteinemia
AT mogilneralony deepbrainstimulationforthetreatmentoftremorandataxiaassociatedwithabetalipoproteinemia

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