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Lysosomal Storage Disorders and Malignancy
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Diseases 2017, 5(1), 10; doi:10.3390/diseases5010010

The Spectrum of Neurological Manifestations Associated with Gaucher Disease

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Building 35A Room 1E623, 35A Convent Drive, Bethesda, MD 20892-3708, USA
Author to whom correspondence should be addressed.
Academic Editor: Jose A. Sanchez-Alcazar
Received: 16 January 2017 / Revised: 27 February 2017 / Accepted: 28 February 2017 / Published: 2 March 2017
(This article belongs to the Collection Lysosomal Storage Diseases)
View Full-Text   |   Download PDF [219 KB, uploaded 2 March 2017]


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. View Full-Text
Keywords: Gaucher disease; neuronopathic; parkinsonism; glucocerebrosidase gene (GBA1); glucocerebrosidase; myoclonic epilepsy Gaucher disease; neuronopathic; parkinsonism; glucocerebrosidase gene (GBA1); glucocerebrosidase; myoclonic epilepsy
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. (CC BY 4.0).

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Roshan Lal, T.; Sidransky, E. The Spectrum of Neurological Manifestations Associated with Gaucher Disease. Diseases 2017, 5, 10.

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