The definition of neuronopathic Gaucher disease

J Inherit Metab Dis. 2020 Sep;43(5):1056-1059. doi: 10.1002/jimd.12235. Epub 2020 Apr 3.

PMID: 32242941

Raphael Schiffmann, Jeff Sevigny, Arndt Rolfs, Elin Haf Davies, Ozlem Goker-Alpan, Magy Abdelwahab, Ashok Vellodi, Eugen Mengel, Elena Lukina, Han-Wook Yoo, Tanya Collin-Histed, Aya Narita, Tama Dinur, Shoshana Revel-Vilk, David Arkadir, Jeff Szer, Michael Wajnrajch, Uma Ramaswami, Ellen Sidransky, Aimee Donald, Ari Zimran

Highlights: In this article, the various forms of Gaucher disease are defined with particular emphasis on the presence of gaze palsy in all patients with Neuronopathic Gaucher disease (nGD).

Abstract

Background: Neuronopathic Gaucher disease (nGD) has a very wide clinical and genotypic spectrum. However, there is no consensus definition of nGD, including no description of how best to diagnostically separate the acute form—Gaucher type 2—from the subacute or chronic form—Gaucher type 3.

Objective: In this article, the various forms of Gaucher disease are defined with particular emphasis on the presence of gaze palsy in all patients with nGD. This consensus definition will help in both clinical diagnosis and appropriate patient recruitment to upcoming clinical trials.

Keywords: Gaucher disease, diagnosis, gaze palsy, lysosomal disease