The definition of neuronopathic Gaucher disease

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 d...

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Autores principales: Schiffmann, Raphael, Sevigny, Jeff, Rolfs, Arndt, Davies, Elin Haf, Goker‐Alpan, Ozlem, Abdelwahab, Magy, Vellodi, Ashok, Mengel, Eugen, Lukina, Elena, Yoo, Han‐Wook, Collin‐Histed, Tanya, Narita, Aya, Dinur, Tama, Revel‐Vilk, Shoshana, Arkadir, David, Szer, Jeff, Wajnrajch, Michael, Ramaswami, Uma, Sidransky, Ellen, Donald, Aimee, Zimran, Ari
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7540563/
https://www.ncbi.nlm.nih.gov/pubmed/32242941
http://dx.doi.org/10.1002/jimd.12235
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author Schiffmann, Raphael
Sevigny, Jeff
Rolfs, Arndt
Davies, Elin Haf
Goker‐Alpan, Ozlem
Abdelwahab, Magy
Vellodi, Ashok
Mengel, Eugen
Lukina, Elena
Yoo, Han‐Wook
Collin‐Histed, Tanya
Narita, Aya
Dinur, Tama
Revel‐Vilk, Shoshana
Arkadir, David
Szer, Jeff
Wajnrajch, Michael
Ramaswami, Uma
Sidransky, Ellen
Donald, Aimee
Zimran, Ari
author_facet Schiffmann, Raphael
Sevigny, Jeff
Rolfs, Arndt
Davies, Elin Haf
Goker‐Alpan, Ozlem
Abdelwahab, Magy
Vellodi, Ashok
Mengel, Eugen
Lukina, Elena
Yoo, Han‐Wook
Collin‐Histed, Tanya
Narita, Aya
Dinur, Tama
Revel‐Vilk, Shoshana
Arkadir, David
Szer, Jeff
Wajnrajch, Michael
Ramaswami, Uma
Sidransky, Ellen
Donald, Aimee
Zimran, Ari
author_sort Schiffmann, Raphael
collection PubMed
description 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.
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spelling pubmed-75405632020-10-09 The definition of neuronopathic Gaucher disease Schiffmann, Raphael Sevigny, Jeff Rolfs, Arndt Davies, Elin Haf Goker‐Alpan, Ozlem Abdelwahab, Magy Vellodi, Ashok Mengel, Eugen Lukina, Elena Yoo, Han‐Wook Collin‐Histed, Tanya Narita, Aya Dinur, Tama Revel‐Vilk, Shoshana Arkadir, David Szer, Jeff Wajnrajch, Michael Ramaswami, Uma Sidransky, Ellen Donald, Aimee Zimran, Ari J Inherit Metab Dis Original Articles 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. John Wiley & Sons, Inc. 2020-04-03 2020-09 /pmc/articles/PMC7540563/ /pubmed/32242941 http://dx.doi.org/10.1002/jimd.12235 Text en © 2020 The Authors. Journal of Inherited Metabolic Disease published by John Wiley & Sons Ltd on behalf of SSIEM This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Original Articles
Schiffmann, Raphael
Sevigny, Jeff
Rolfs, Arndt
Davies, Elin Haf
Goker‐Alpan, Ozlem
Abdelwahab, Magy
Vellodi, Ashok
Mengel, Eugen
Lukina, Elena
Yoo, Han‐Wook
Collin‐Histed, Tanya
Narita, Aya
Dinur, Tama
Revel‐Vilk, Shoshana
Arkadir, David
Szer, Jeff
Wajnrajch, Michael
Ramaswami, Uma
Sidransky, Ellen
Donald, Aimee
Zimran, Ari
The definition of neuronopathic Gaucher disease
title The definition of neuronopathic Gaucher disease
title_full The definition of neuronopathic Gaucher disease
title_fullStr The definition of neuronopathic Gaucher disease
title_full_unstemmed The definition of neuronopathic Gaucher disease
title_short The definition of neuronopathic Gaucher disease
title_sort definition of neuronopathic gaucher disease
topic Original Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7540563/
https://www.ncbi.nlm.nih.gov/pubmed/32242941
http://dx.doi.org/10.1002/jimd.12235
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