Background

The gangliosidoses are rare inherited diseases that result in pathologic accumulation of gangliosides in the central nervous system and other tissues, leading to severe and progressive neurological impairment and early death in the childhood forms. No treatments are currently approved for the gangliosidoses, and development of treatments is impaired by limited understanding of the natural history of these diseases.

Objective

The objective of this study is to improve understanding of the juvenile gangliosidoses phenotypes and the late-infantile phenotypic subtype.

Methods

Through a prospective natural history study of subjects with juvenile GM1- and GM2-gangliosidosis, a timeline of clinical changes was developed for the classic juvenile phenotypes and the late-infantile phenotypes and results of serial neurodevelopmental testing was analyzed.

Results

Several candidate ‘outcome measures’ were identified: changes in ambulation and verbalization skills, the communication domain from neurodevelopmental testing and the caregiver-reported socialization domain.

Conclusions

The most common symptoms leading caregivers to seek a genetic diagnosis were changes in ambulation and verbalization.

中文翻译：

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青少年神经节苷脂沉积症：临床变化的时间表

背景

神经节苷脂是一种罕见的遗传性疾病，会导致神经节苷脂在中枢神经系统和其他组织中的病理性积累，从而导致严重的进行性神经功能障碍和儿童期的早期死亡。目前还没有批准用于神经节苷脂病的治疗方法，并且由于对这些疾病的自然史的了解有限，治疗的发展受到了损害。

客观的

本研究的目的是提高对青少年神经节苷脂沉积症表型和晚期婴儿表型亚型的理解。

方法

通过对青少年 GM1 和 GM2 神经节苷脂沉积症受试者的前瞻性自然史研究，为经典青少年表型和晚期婴儿表型制定了临床变化时间表，并分析了系列神经发育测试的结果。

结果

确定了几个候选“结果测量”：行走和语言技能的变化、神经发育测试的交流领域和照顾者报告的社会化领域。

结论

导致护理人员寻求基因诊断的最常见症状是行走和语言表达的变化。