14名磷酸甘露聚糖酶缺乏症(PMM2-CDG)患者的神经发育概况。

IF 4.2 2区 医学 Q1 ENDOCRINOLOGY & METABOLISM Journal of Inherited Metabolic Disease Pub Date : 2024-08-06 DOI:10.1002/jimd.12782
Tara Weixel, Dee Adedipe, Glennis Muldoon, Christina Lam, Donna Krasnewich, Audrey Thurm, Lynne Wolfe
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引用次数: 0

摘要

PMM2-CDG(原 CDG-1a)是最常见的一种先天性糖基化紊乱,为常染色体隐性遗传。PMM2-CDG 常在婴儿期发病,临床表现为多系统受累,全球已有超过 1000 人被确诊。很少有自然史研究报告 PMM2-CDG 的神经发育特征。因此,我们开展了一项前瞻性研究,将神经发育评估作为深度表型分析的一部分。这项名为 "已知和疑似先天性糖基化紊乱的临床和基础调查"(NCT02089789)的研究纳入了14名经分子诊断确诊为PMM2-CDG的参与者(8男6女,年龄2-33岁)。PMM2-CDG的临床特征包括神经发育障碍、发育迟缓、肌张力低下、小脑萎缩、周围神经病变、运动障碍、眼科异常和听觉功能差异。所有 PMM2-CDG 参与者均符合智力残疾标准(如果年龄小于 5 岁,则为全面发育迟缓)。大多数患者从未达到某些粗大运动和语言发育里程碑。只有两名受试者可以行走,几乎所有受试者都被视为语言能力低下。总体而言,PMM2-CDG 患者的神经发育特征非常复杂,主要表现为智力障碍和多系统表现。这种对PMM2-CDG神经发育特征的系统量化,扩大了我们对PMM2-CDG相关障碍范围的了解,并将有助于指导管理策略。
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Neurodevelopmental profiles of 14 individuals with phosphomannomutase deficiency (PMM2-CDG).

PMM2-CDG (formerly CDG-1a), the most common type of congenital disorders of glycosylation, is inherited in an autosomal recessive pattern. PMM2-CDG frequently presents in infancy with multisystemic clinical involvement, and it has been diagnosed in over 1000 people worldwide. There have been few natural history studies reporting neurodevelopmental characterization of PMM2-CDG. Thus, a prospective study was conducted that included neurodevelopmental assessments as part of deep phenotyping. This study, Clinical and Basic Investigations into Known and Suspected Congenital Disorders of Glycosylation (NCT02089789), included 14 participants (8 males and 6 females ages 2-33 years) with a confirmed molecular diagnosis of PMM2-CDG. Clinical features of PMM2-CDG in this cohort were neurodevelopmental disorders, faltering growth, hypotonia, cerebellar atrophy, peripheral neuropathy, movement disorders, ophthalmological abnormalities, and auditory function differences. All PMM2-CDG participants met criteria for intellectual disability (or global developmental delay if younger than age 5). The majority never attained certain gross motor and language milestones. Only two participants were ambulatory, and almost all were considered minimally verbal. Overall, individuals with PMM2-CDG present with a complex neurodevelopmental profile characterized by intellectual disability and multisystemic presentations. This systematic quantification of the neurodevelopmental profile of PMM2-CDG expands our understanding of the range in impairments associated with PMM2-CDG and will help guide management strategies.

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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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