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The Spectrum of Neurological Manifestations Associated with Gaucher Disease
Gaucher disease, the most common lysosomal storage disorder, is due to a deficiency in the enzyme glucocerebrosidase. This leads to the accumulation of its normal substrate, glucocerebroside, in tissue macrophages, affecting the hematological, visceral, bone and neurologic systems. Gaucher disease i...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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MDPI
2017
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5456331/ https://www.ncbi.nlm.nih.gov/pubmed/28933363 http://dx.doi.org/10.3390/diseases5010010 |
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author | Roshan Lal, Tamanna Sidransky, Ellen |
author_facet | Roshan Lal, Tamanna Sidransky, Ellen |
author_sort | Roshan Lal, Tamanna |
collection | PubMed |
description | Gaucher disease, the most common lysosomal storage disorder, is due to a deficiency in the enzyme glucocerebrosidase. This leads to the accumulation of its normal substrate, glucocerebroside, in tissue macrophages, affecting the hematological, visceral, bone and neurologic systems. Gaucher disease is classified into three broad phenotypes based upon the presence or absence of neurological involvement: type 1 (non-neuronopathic), type 2 (acute neuronopathic), and type 3 (subacute neuronopathic). Phenotypically, there is a wide spectrum of visceral and neurological manifestations. Enzyme replacement is effective in managing the visceral disease; however, treating the neurological manifestations has proved to be more challenging. This review discusses the various neurological manifestations encountered in Gaucher disease, and provides a brief overview regarding the treatment and ongoing research challenges. |
format | Online Article Text |
id | pubmed-5456331 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2017 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-54563312017-09-12 The Spectrum of Neurological Manifestations Associated with Gaucher Disease Roshan Lal, Tamanna Sidransky, Ellen Diseases Review Gaucher disease, the most common lysosomal storage disorder, is due to a deficiency in the enzyme glucocerebrosidase. This leads to the accumulation of its normal substrate, glucocerebroside, in tissue macrophages, affecting the hematological, visceral, bone and neurologic systems. Gaucher disease is classified into three broad phenotypes based upon the presence or absence of neurological involvement: type 1 (non-neuronopathic), type 2 (acute neuronopathic), and type 3 (subacute neuronopathic). Phenotypically, there is a wide spectrum of visceral and neurological manifestations. Enzyme replacement is effective in managing the visceral disease; however, treating the neurological manifestations has proved to be more challenging. This review discusses the various neurological manifestations encountered in Gaucher disease, and provides a brief overview regarding the treatment and ongoing research challenges. MDPI 2017-03-02 /pmc/articles/PMC5456331/ /pubmed/28933363 http://dx.doi.org/10.3390/diseases5010010 Text en © 2017 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Review Roshan Lal, Tamanna Sidransky, Ellen The Spectrum of Neurological Manifestations Associated with Gaucher Disease |
title | The Spectrum of Neurological Manifestations Associated with Gaucher Disease |
title_full | The Spectrum of Neurological Manifestations Associated with Gaucher Disease |
title_fullStr | The Spectrum of Neurological Manifestations Associated with Gaucher Disease |
title_full_unstemmed | The Spectrum of Neurological Manifestations Associated with Gaucher Disease |
title_short | The Spectrum of Neurological Manifestations Associated with Gaucher Disease |
title_sort | spectrum of neurological manifestations associated with gaucher disease |
topic | Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5456331/ https://www.ncbi.nlm.nih.gov/pubmed/28933363 http://dx.doi.org/10.3390/diseases5010010 |
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