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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Bibliographic Details

Published in:	Diseases
Main Authors:	Tamanna Roshan Lal, Ellen Sidransky
Format:	Article
Language:	English
Published:	MDPI AG 2017-03-01
Subjects:	Gaucher disease neuronopathic parkinsonism glucocerebrosidase gene (GBA1) glucocerebrosidase myoclonic epilepsy
Online Access:	http://www.mdpi.com/2079-9721/5/1/10