The Spectrum of Neurological Manifestations Associated with Gaucher Disease

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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Main Authors: Tamanna Roshan Lal, Ellen Sidransky
Format: Article
Language:English
Published: MDPI AG 2017-03-01
Series:Diseases
Subjects:
Gaucher disease
neuronopathic
parkinsonism
glucocerebrosidase gene (GBA1)
glucocerebrosidase
myoclonic epilepsy
Online Access:http://www.mdpi.com/2079-9721/5/1/10
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spelling doaj-49db795023a44eecbae8a1e5d9eb418c2020-11-24T22:59:39ZengMDPI AGDiseases2079-97212017-03-01511010.3390/diseases5010010diseases5010010The Spectrum of Neurological Manifestations Associated with Gaucher DiseaseTamanna Roshan Lal0Ellen Sidransky1Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Building 35A Room 1E623, 35A Convent Drive, Bethesda, MD 20892-3708, USAMedical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Building 35A Room 1E623, 35A Convent Drive, Bethesda, MD 20892-3708, USAGaucher 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.http://www.mdpi.com/2079-9721/5/1/10Gaucher diseaseneuronopathicparkinsonismglucocerebrosidase gene (GBA1)glucocerebrosidasemyoclonic epilepsy
collection DOAJ
language English
format Article
sources DOAJ
author Tamanna Roshan Lal
Ellen Sidransky
spellingShingle Tamanna Roshan Lal
Ellen Sidransky
The Spectrum of Neurological Manifestations Associated with Gaucher Disease
Diseases
Gaucher disease
neuronopathic
parkinsonism
glucocerebrosidase gene (GBA1)
glucocerebrosidase
myoclonic epilepsy
author_facet Tamanna Roshan Lal
Ellen Sidransky
author_sort Tamanna Roshan Lal
title The Spectrum of Neurological Manifestations Associated with Gaucher Disease
title_short 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_sort spectrum of neurological manifestations associated with gaucher disease
publisher MDPI AG
series Diseases
issn 2079-9721
publishDate 2017-03-01
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.
topic Gaucher disease
neuronopathic
parkinsonism
glucocerebrosidase gene (GBA1)
glucocerebrosidase
myoclonic epilepsy
url http://www.mdpi.com/2079-9721/5/1/10
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