The definition of neuronopathic Gaucher disease

被引：47

作者：

Schiffmann, Raphael ^{[1
]}

Sevigny, Jeff ^{[2
]}

Rolfs, Arndt ^{[3
]}

Davies, Elin Haf ^{[4
]}

Goker-Alpan, Ozlem ^{[5
]}

Abdelwahab, Magy ^{[6
]}

Vellodi, Ashok ^{[7
]}

Mengel, Eugen ^{[8
]}

Lukina, Elena ^{[9
]}

Yoo, Han-Wook ^{[10
]}

Collin-Histed, Tanya ^{[11
]}

Narita, Aya ^{[12
]}

Dinur, Tama ^{[13
]}

Revel-Vilk, Shoshana ^{[13
]}

Arkadir, David ^{[14
]}

Szer, Jeff ^{[15
,16
]}

Wajnrajch, Michael ^{[17
,18
]}

Ramaswami, Uma ^{[19
]}

Sidransky, Ellen ^{[20
]}

Donald, Aimee ^{[21
]}

Zimran, Ari ^{[13
,14
]}

机构：

[1] Baylor Scott & White Res Inst, 3417 Gaston Ave,Suite 935, Dallas, TX 75246 USA

[2] Prevail Therapeut, New York, NY USA

[3] Centogene AG, Rostock, Germany

[4] Aparito Ltd, Gwenfro Technol Pk, Wrexham, Wales

[5] Lysosomal & Rare Disorders Res & Treatment Ctr LD, Fairfax, VA USA

[6] Cairo Univ, Pediat Hosp, Dept Pediat Hematol, Cairo, Egypt

[7] Bushey Herts, Bushey WD23 1DU, England

[8] Clin Sci LSD, Hochheim, Germany

[9] Natl Res Ctr Hematol, Moscow, Russia

[10] Med Genet & Genom Ctr, Dept Pediat, Med Ctr, Seoul, South Korea

[11] Int Gaucher Alliance, Dursley, England

[12] Tottori Univ, Fac Med, Inst Neurol Sci, Div Child Neurol, Yonago, Tottori, Japan

[13] Shaare Zedek Med Ctr, Gaucher Unit, Jerusalem, Israel

[14] Hebrew Univ Jerusalem, Hadassah Med Sch, Jerusalem, Israel

[15] Peter MacCallum Canc Ctr, Clin Haematol, Melbourne, Vic, Australia

[16] Royal Melbourne Hosp, Melbourne, Vic, Australia

[17] Pfizer Inc, New York, NY USA

[18] NYU, Langone Sch Med, Pediat, New York, NY USA

[19] Royal Free Hosp, Lysosomal Storage Disorder Unit, London, England

[20] NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USA

[21] Univ Manchester, St Marys Hosp, Manchester, Lancs, England

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 2020年 / 43卷 / 05期

关键词：

diagnosis; Gaucher disease; gaze palsy; lysosomal disease; PHENOTYPE; TYPE-2;

D O I：

10.1002/jimd.12235

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：1056 / 1059

页数：4

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