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

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

Authors

Raphael Schiffmann¹, Jeff Sevigny², Arndt Rolfs³, Elin Haf Davies⁴, Ozlem Goker-Alpan⁵, Magy Abdelwahab⁶, Ashok Vellodi⁷, Eugen Mengel⁸, Elena Lukina⁹, Han-Wook Yoo¹⁰, Tanya Collin-Histed¹¹, Aya Narita¹², Tama Dinur¹³, Shoshana Revel-Vilk¹³, David Arkadir¹⁴, Jeff Szer¹⁵, Michael Wajnrajch¹⁶, Uma Ramaswami¹⁷, Ellen Sidransky¹⁸, Aimee Donald¹⁹, Ari Zimran^{13

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Affiliations

¹ Baylor Scott & White Research Institute, Dallas, Texas.
² Prevail Therapeutics, New York, New York.
³ Centogene AG, Rostock, Germany.
⁴ Aparito, Ltd, Gwenfro Technology Park, Wrexham, UK.
⁵ Lysosomal and Rare Disorders Research and Treatment Center (LDRTC), Fairfax, Virginia.
⁶ Department of Pediatric Hematology, Cairo University Pediatric Hospital, Cairo, Egypt.
⁷ Bushey Herts WD23 1DU, Bushey, UK.
⁸ Clinical Science for LSD, Hochheim, Germany.
⁹ National Research Center for Hematology, Moscow, Russia.
¹⁰ Asan Medical Center, Department of Pediatrics, Medical Genetics & Genomics Center, Seoul, South Korea.
¹¹ International Gaucher Alliance, Dursley, UK.
¹² Division of Child Neurology, Institute of Neurological Science, Tottori University Faculty of Medicine, Yonago, Tottori, Japan.
¹³ Gaucher Unit, Shaare Zedek Medical Center, Jerusalem, Israel.
¹⁴ Hebrew University-Hadassah Medical School, Jerusalem, Israel.
¹⁵ Clinical Haematology, Peter MacCallum Cancer Centre and The Royal Melbourne Hospital, Melbourne, Australia.
¹⁶ Pfizer Inc., Clinical Professor of Pediatrics, New York University Langone School of Medicine, New York, New York.
¹⁷ Lysosomal Storage Disorder Unit, Royal Free Hospital, London, UK.
¹⁸ Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
¹⁹ University of Manchester, St Marys Hospital, Manchester, UK.

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.

Keywords: Gaucher disease; diagnosis; gaze palsy; lysosomal disease.

MeSH terms

Gaucher Disease / diagnosis*
Gaucher Disease / genetics
Gaucher Disease / physiopathology
Genotype
Glucosylceramidase / deficiency
Humans
Ophthalmoplegia / etiology
Terminology as Topic

Substances

Glucosylceramidase