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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...

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Autores principales: Roshan Lal, Tamanna, Sidransky, Ellen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2017
Materias:
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.
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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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