Gaucher Disease: New Expanded Classification Emphasizing Neurological Features

MohammadReza Alaei, Idin Tabrizi, Narjes Jafari, Hadi Mozafari

Abstract


83

 

Gaucher disease (GD) is a rare inherited metabolic disorder and the

most common lysosomal storage disorder, caused by a deficiency in

glucocerebrosidase enzyme activity. It has been classified according

to the neurological manifestations into three types: type 1, without

neuropathic findings, type 2 with acute infantile neuropathic signs

and type 3 or chronic neuropathic form. However, report of new

variants has led to the expansion of phenotype as a clinical phenotype

of GD considered as a continuum of phenotypes. Therefore, it seems

that a new classification is needed to cover new forms of the disease.

 

Keywords: Gaucher disease; Neurological manifestations; Phenotypes

 


Keywords


Neurological symptom, Gaucher type 1, Gaucher type 2; Gaucher type 3; Glucocerebroside

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DOI: https://doi.org/10.22037/ijcn.v13i1.21757

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