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The definition of neuronopathic Gaucher disease
Author(s) -
Schiffmann Raphael,
Sevigny Jeff,
Rolfs Arndt,
Davies Elin Haf,
GokerAlpan Ozlem,
Abdelwahab Magy,
Vellodi Ashok,
Mengel Eugen,
Lukina Elena,
Yoo HanWook,
CollinHisted Tanya,
Narita Aya,
Dinur Tama,
RevelVilk Shoshana,
Arkadir David,
Szer Jeff,
Wajnrajch Michael,
Ramaswami Uma,
Sidransky Ellen,
Donald Aimee,
Zimran Ari
Publication year - 2020
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1002/jimd.12235
Subject(s) - gaucher's disease , disease , medicine , glucocerebrosidase , pediatrics , pathology
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. In this article, we define the various forms of Gaucher disease 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.