The definition of neuronopathic Gaucher disease.

Gaucher Disease / diagnosis Genotype Glucosylceramidase / deficiency Humans Ophthalmoplegia / etiology Terminology as Topic
Gaucher disease diagnosis gaze palsy lysosomal disease

Journal

Journal of inherited metabolic disease
ISSN: 1573-2665
Titre abrégé: J Inherit Metab Dis
Pays: United States
ID NLM: 7910918

Informations de publication

Date de publication:
09 2020
Historique:
received: 21 01 2020
revised: 17 03 2020
accepted: 19 03 2020
pubmed: 4 4 2020
medline: 6 10 2021
entrez: 4 4 2020
Statut: ppublish

Résumé

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.

Identifiants

DOI: 10.1002/jimd.12235 PMID: 32242941 PMC: PMC7540563
pubmed: 32242941
doi: 10.1002/jimd.12235
pmc: PMC7540563
doi:

Substances chimiques

Glucosylceramidase EC 3.2.1.45

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

1056-1059

Informations de copyright

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

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Auteurs

Raphael Schiffmann (R)

Baylor Scott & White Research Institute, Dallas, Texas.
ORCID: 0000-0003-2437-0252

Jeff Sevigny (J)

Prevail Therapeutics, New York, New York.

Arndt Rolfs (A)

Centogene AG, Rostock, Germany.

Elin Haf Davies (EH)

Aparito, Ltd, Gwenfro Technology Park, Wrexham, UK.

Ozlem Goker-Alpan (O)

Lysosomal and Rare Disorders Research and Treatment Center (LDRTC), Fairfax, Virginia.

Magy Abdelwahab (M)

Department of Pediatric Hematology, Cairo University Pediatric Hospital, Cairo, Egypt.

Ashok Vellodi (A)

Bushey Herts WD23 1DU, Bushey, UK.

Eugen Mengel (E)

Clinical Science for LSD, Hochheim, Germany.

Elena Lukina (E)

National Research Center for Hematology, Moscow, Russia.

Han-Wook Yoo (HW)

Asan Medical Center, Department of Pediatrics, Medical Genetics & Genomics Center, Seoul, South Korea.

Tanya Collin-Histed (T)

International Gaucher Alliance, Dursley, UK.

Aya Narita (A)

Division of Child Neurology, Institute of Neurological Science, Tottori University Faculty of Medicine, Yonago, Tottori, Japan.

Tama Dinur (T)

Gaucher Unit, Shaare Zedek Medical Center, Jerusalem, Israel.

Shoshana Revel-Vilk (S)

Gaucher Unit, Shaare Zedek Medical Center, Jerusalem, Israel.

David Arkadir (D)

Hebrew University-Hadassah Medical School, Jerusalem, Israel.

Jeff Szer (J)

Clinical Haematology, Peter MacCallum Cancer Centre and The Royal Melbourne Hospital, Melbourne, Australia.

Michael Wajnrajch (M)

Pfizer Inc., Clinical Professor of Pediatrics, New York University Langone School of Medicine, New York, New York.

Uma Ramaswami (U)

Lysosomal Storage Disorder Unit, Royal Free Hospital, London, UK.

Ellen Sidransky (E)

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

Aimee Donald (A)

University of Manchester, St Marys Hospital, Manchester, UK.

Ari Zimran (A)

Gaucher Unit, Shaare Zedek Medical Center, Jerusalem, Israel.
Hebrew University-Hadassah Medical School, Jerusalem, Israel.

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Classifications MeSH

questionsmedicales.fr › Maladies métaboliques et nutritionnelles › Maladies métaboliques › Erreurs innées du métabolisme › Maladies lysosomiales › Maladies neurologiques de surcharge lysosomiale › Sphingolipidoses › Maladie de Gaucher › The definition of neuronopathic Gaucher disease.
questionsmedicales.fr › Phénomènes génétiques › Génotype › The definition of neuronopathic Gaucher disease.
questionsmedicales.fr › Enzymes et coenzymes › Enzymes › Hydrolases › Glycosidases › Glucosidases › Glucosylceramidase › The definition of neuronopathic Gaucher disease.
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › The definition of neuronopathic Gaucher disease.
questionsmedicales.fr › États, signes et symptômes pathologiques › Signes et symptômes › Manifestations neurologiques › Paralysie › Ophtalmoplégie › The definition of neuronopathic Gaucher disease.
questionsmedicales.fr › Sciences de l'information › Langage › Linguistique › Terminologie comme sujet › The definition of neuronopathic Gaucher disease.