The definition of neuronopathic Gaucher disease

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

doi:10.1002/jimd.12235

The definition of neuronopathic Gaucher disease

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

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

82 Scopus citations

Abstract

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.

Original language	English
Pages (from-to)	1056-1059
Number of pages	4
Journal	Journal of Inherited Metabolic Disease
Volume	43
Issue number	5
DOIs	https://doi.org/10.1002/jimd.12235
State	Published - 1 Sep 2020
Externally published	Yes

Bibliographical note

Publisher Copyright:
© 2020 The Authors. Journal of Inherited Metabolic Disease published by John Wiley & Sons Ltd on behalf of SSIEM

Keywords

Gaucher disease
diagnosis
gaze palsy
lysosomal disease

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10.1002/jimd.12235

Cite this

Schiffmann, R., Sevigny, J., Rolfs, A., Davies, E. H., Goker-Alpan, O., Abdelwahab, M., Vellodi, A., Mengel, E., Lukina, E., Yoo, H. W., Collin-Histed, T., Narita, A., Dinur, T., Revel-Vilk, S., Arkadir, D., Szer, J., Wajnrajch, M., Ramaswami, U., Sidransky, E., ... Zimran, A. (2020). The definition of neuronopathic Gaucher disease. Journal of Inherited Metabolic Disease, 43(5), 1056-1059. https://doi.org/10.1002/jimd.12235

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abstract = "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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doi = "10.1002/jimd.12235",

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Schiffmann, R, Sevigny, J, Rolfs, A, Davies, EH, Goker-Alpan, O, Abdelwahab, M, Vellodi, A, Mengel, E, Lukina, E, Yoo, HW, Collin-Histed, T, Narita, A, Dinur, T, Revel-Vilk, S, Arkadir, D, Szer, J, Wajnrajch, M, Ramaswami, U, Sidransky, E, Donald, A & Zimran, A 2020, 'The definition of neuronopathic Gaucher disease', Journal of Inherited Metabolic Disease, vol. 43, no. 5, pp. 1056-1059. https://doi.org/10.1002/jimd.12235

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AU - Abdelwahab, Magy

AU - Vellodi, Ashok

AU - Mengel, Eugen

AU - Lukina, Elena

AU - Yoo, Han Wook

AU - Collin-Histed, Tanya

AU - Narita, Aya

AU - Dinur, Tama

AU - Revel-Vilk, Shoshana

AU - Arkadir, David

AU - Szer, Jeff

AU - Wajnrajch, Michael

AU - Ramaswami, Uma

AU - Sidransky, Ellen

AU - Donald, Aimee

AU - Zimran, Ari

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The definition of neuronopathic Gaucher disease

Abstract

Bibliographical note

Keywords

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