Neuronopathic Gaucher disease: Rare in the West, common in the East

IF 4.2 2区 医学 Q1 ENDOCRINOLOGY & METABOLISM
Ozlem Goker-Alpan, Margarita M. Ivanova
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Abstract

Gaucher disease (GD) stands as one of the most prevalent lysosomal disorders, yet neuronopathic GD (nGD) is an uncommon subset characterized by a wide array of clinical manifestations that complicate diagnosis, particularly when neurological symptoms are understated. nGD may manifest as the acute neuronopathic type, or GD type 2 (GD2), either prenatally or within the first weeks to months of life, whereas GD type 3 (GD3) symptoms may emerge at any point during childhood or occasionally in adolescence. The clinical presentation encompasses severe systemic involvement to mild visceral disease, often coupled with a spectrum of progressive neurological signs and symptoms such as cognitive impairment, ataxia, seizures, myoclonus, varying degrees of brainstem dysfunction presenting with stridor, apneic episodes, and/or impaired swallowing. This manuscript aims to provide a comprehensive review of the incidence, distinctive presentations, and diverse clinical phenotypes of nGD across various countries and regions. It will explore the natural history of the neurodegenerative process in GD, shedding light on its various manifestations during infancy and childhood, and offer insights into the diagnostic journey, the challenges faced in the clinical management, and current and investigative therapeutic approaches for GD's neurological variants.

Abstract Image

神经病变性戈谢病:西方罕见,东方常见。
戈谢病(GD)是最常见的溶酶体疾病之一,但神经病变性戈谢病(nGD)是一种不常见的亚型,其特点是临床表现多种多样,使诊断变得复杂,尤其是当神经系统症状被轻描淡写时。临床表现包括从严重的全身受累到轻微的内脏疾病,通常伴有一系列进行性神经系统体征和症状,如认知障碍、共济失调、癫痫发作、肌阵挛、不同程度的脑干功能障碍,表现为喘鸣、呼吸暂停发作和/或吞咽障碍。本手稿旨在全面回顾 nGD 在不同国家和地区的发病率、独特表现和不同临床表型。它将探讨 GD 神经变性过程的自然史,揭示其在婴儿期和儿童期的各种表现,并深入探讨诊断过程、临床管理中面临的挑战以及针对 GD 神经变异的当前和研究性治疗方法。
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来源期刊
Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease 医学-内分泌学与代谢
CiteScore
9.50
自引率
7.10%
发文量
117
审稿时长
4-8 weeks
期刊介绍: The Journal of Inherited Metabolic Disease (JIMD) is the official journal of the Society for the Study of Inborn Errors of Metabolism (SSIEM). By enhancing communication between workers in the field throughout the world, the JIMD aims to improve the management and understanding of inherited metabolic disorders. It publishes results of original research and new or important observations pertaining to any aspect of inherited metabolic disease in humans and higher animals. This includes clinical (medical, dental and veterinary), biochemical, genetic (including cytogenetic, molecular and population genetic), experimental (including cell biological), methodological, theoretical, epidemiological, ethical and counselling aspects. The JIMD also reviews important new developments or controversial issues relating to metabolic disorders and publishes reviews and short reports arising from the Society''s annual symposia. A distinction is made between peer-reviewed scientific material that is selected because of its significance for other professionals in the field and non-peer- reviewed material that aims to be important, controversial, interesting or entertaining (“Extras”).
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