Parkinson disease in Gaucher disease

BACKGROUND: Gaucher disease (GD) is an inborn error of metabolism caused by mutations in the gene (GBA) coding for glucocerebrosidase (GCase), inherited in an autosomal recessive pattern. GD patients have up to 9% risk of developing PD. CASE PRESENTATION: We report two patients with GD that develope...

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Detalles Bibliográficos
Autores principales: Rodriguez-Porcel, Federico, Espay, Alberto J., Carecchio, Miryam
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5440911/
https://www.ncbi.nlm.nih.gov/pubmed/28546865
http://dx.doi.org/10.1186/s40734-017-0054-2
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author Rodriguez-Porcel, Federico
Espay, Alberto J.
Carecchio, Miryam
author_facet Rodriguez-Porcel, Federico
Espay, Alberto J.
Carecchio, Miryam
author_sort Rodriguez-Porcel, Federico
collection PubMed
description BACKGROUND: Gaucher disease (GD) is an inborn error of metabolism caused by mutations in the gene (GBA) coding for glucocerebrosidase (GCase), inherited in an autosomal recessive pattern. GD patients have up to 9% risk of developing PD. CASE PRESENTATION: We report two patients with GD that developed PD at different disease stages. CONCLUSION: We reviewed the literature on the coexistence of PD and GD and speculate that the severity of symptoms may be related to the type of GBA mutation inherited. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1186/s40734-017-0054-2) contains supplementary material, which is available to authorized users.
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spelling pubmed-54409112017-05-25 Parkinson disease in Gaucher disease Rodriguez-Porcel, Federico Espay, Alberto J. Carecchio, Miryam J Clin Mov Disord Case Report BACKGROUND: Gaucher disease (GD) is an inborn error of metabolism caused by mutations in the gene (GBA) coding for glucocerebrosidase (GCase), inherited in an autosomal recessive pattern. GD patients have up to 9% risk of developing PD. CASE PRESENTATION: We report two patients with GD that developed PD at different disease stages. CONCLUSION: We reviewed the literature on the coexistence of PD and GD and speculate that the severity of symptoms may be related to the type of GBA mutation inherited. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1186/s40734-017-0054-2) contains supplementary material, which is available to authorized users. BioMed Central 2017-05-23 /pmc/articles/PMC5440911/ /pubmed/28546865 http://dx.doi.org/10.1186/s40734-017-0054-2 Text en © The Author(s). 2017 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Case Report
Rodriguez-Porcel, Federico
Espay, Alberto J.
Carecchio, Miryam
Parkinson disease in Gaucher disease
title Parkinson disease in Gaucher disease
title_full Parkinson disease in Gaucher disease
title_fullStr Parkinson disease in Gaucher disease
title_full_unstemmed Parkinson disease in Gaucher disease
title_short Parkinson disease in Gaucher disease
title_sort parkinson disease in gaucher disease
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5440911/
https://www.ncbi.nlm.nih.gov/pubmed/28546865
http://dx.doi.org/10.1186/s40734-017-0054-2
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