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Dystonia Responsive to Dopamine: POLG Mutations Should Be Considered If Sensory Neuropathy Is Present
The POLG gene encodes mitochondrial DNA polymerase, and mutations in this gene cause a spectrum of disorders related to mitochondrial DNA depletion or deletion. Dystonia has only rarely been reported as an early and prominent manifestation of POLG mutations. We report a case of a 30-year-old male pr...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The Korean Movement Disorder Society
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8175819/ https://www.ncbi.nlm.nih.gov/pubmed/34062649 http://dx.doi.org/10.14802/jmd.20159 |
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author | Qiu, Jessica Kumar, Kishore Raj Watson, Eloise Ahmad, Kate Sue, Carolyn M. Hayes, Michael W. |
author_facet | Qiu, Jessica Kumar, Kishore Raj Watson, Eloise Ahmad, Kate Sue, Carolyn M. Hayes, Michael W. |
author_sort | Qiu, Jessica |
collection | PubMed |
description | The POLG gene encodes mitochondrial DNA polymerase, and mutations in this gene cause a spectrum of disorders related to mitochondrial DNA depletion or deletion. Dystonia has only rarely been reported as an early and prominent manifestation of POLG mutations. We report a case of a 30-year-old male presenting with lower limb dystonia with peripheral neuropathy and demonstrate that the dystonia was levodopa responsive (with video findings). Whole-genome sequencing revealed biallelic variants in the POLG gene: a known pathogenic variant [NM_001126131.2:c.2209G>C (p.Gly737Arg)] and a novel likely pathogenic variant [NM_001126131.2:c.3305A>C (p.Gln1102Pro)]. A genetic diagnosis was made before the appearance of more readily recognizable features of mitochondrial disease, allowing us to avoid invasive tissue biopsies or potentially deleterious treatments, such as sodium valproate. A POLG-related disorder should be suspected in cases of dystonia with peripheral neuropathy, and this diagnosis may have implications for further investigations and management. |
format | Online Article Text |
id | pubmed-8175819 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | The Korean Movement Disorder Society |
record_format | MEDLINE/PubMed |
spelling | pubmed-81758192021-06-10 Dystonia Responsive to Dopamine: POLG Mutations Should Be Considered If Sensory Neuropathy Is Present Qiu, Jessica Kumar, Kishore Raj Watson, Eloise Ahmad, Kate Sue, Carolyn M. Hayes, Michael W. J Mov Disord Case Report The POLG gene encodes mitochondrial DNA polymerase, and mutations in this gene cause a spectrum of disorders related to mitochondrial DNA depletion or deletion. Dystonia has only rarely been reported as an early and prominent manifestation of POLG mutations. We report a case of a 30-year-old male presenting with lower limb dystonia with peripheral neuropathy and demonstrate that the dystonia was levodopa responsive (with video findings). Whole-genome sequencing revealed biallelic variants in the POLG gene: a known pathogenic variant [NM_001126131.2:c.2209G>C (p.Gly737Arg)] and a novel likely pathogenic variant [NM_001126131.2:c.3305A>C (p.Gln1102Pro)]. A genetic diagnosis was made before the appearance of more readily recognizable features of mitochondrial disease, allowing us to avoid invasive tissue biopsies or potentially deleterious treatments, such as sodium valproate. A POLG-related disorder should be suspected in cases of dystonia with peripheral neuropathy, and this diagnosis may have implications for further investigations and management. The Korean Movement Disorder Society 2021-05 2021-05-26 /pmc/articles/PMC8175819/ /pubmed/34062649 http://dx.doi.org/10.14802/jmd.20159 Text en Copyright © 2021 The Korean Movement Disorder Society https://creativecommons.org/licenses/by-nc/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/ (https://creativecommons.org/licenses/by-nc/4.0/) ) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Case Report Qiu, Jessica Kumar, Kishore Raj Watson, Eloise Ahmad, Kate Sue, Carolyn M. Hayes, Michael W. Dystonia Responsive to Dopamine: POLG Mutations Should Be Considered If Sensory Neuropathy Is Present |
title | Dystonia Responsive to Dopamine: POLG Mutations Should Be Considered If Sensory Neuropathy Is Present |
title_full | Dystonia Responsive to Dopamine: POLG Mutations Should Be Considered If Sensory Neuropathy Is Present |
title_fullStr | Dystonia Responsive to Dopamine: POLG Mutations Should Be Considered If Sensory Neuropathy Is Present |
title_full_unstemmed | Dystonia Responsive to Dopamine: POLG Mutations Should Be Considered If Sensory Neuropathy Is Present |
title_short | Dystonia Responsive to Dopamine: POLG Mutations Should Be Considered If Sensory Neuropathy Is Present |
title_sort | dystonia responsive to dopamine: polg mutations should be considered if sensory neuropathy is present |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8175819/ https://www.ncbi.nlm.nih.gov/pubmed/34062649 http://dx.doi.org/10.14802/jmd.20159 |
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