Shapiro Neuropsychology Consultants, LLC, Portland, OR, USA; Departments of Pediatrics and Neurology, University of Minnesota, Minneapolis, MN, USA.
Willink Unit, Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester Academic Health Sciences Centre, University of Manchester, CMFT, Manchester, United Kingdom.
Mol Genet Metab. 2017 Dec;122S:1-7. doi: 10.1016/j.ymgme.2017.08.009. Epub 2017 Aug 26.
The mucopolysaccharidoses (MPS) are a group of rare, inherited lysosomal storage disorders, caused by mutations in lysosomal enzymes involved in the degradation of glycosaminoglycans (GAGs). The resulting accumulation of GAGs in the body leads to widespread tissue and organ dysfunction. The spectrum, severity, and progression rate of clinical manifestations varies widely between and within the different MPS types. In addition to somatic signs and symptoms, which vary between the different MPS disorders, patients with MPS I, II, III, and VII present with significant neurological signs and symptoms, including impaired cognitive abilities, difficulties in language and speech, and/or behavioral and sleep problems. To effectively manage and develop therapies that target these neurological manifestations, it is of utmost importance to have a profound knowledge of their natural history and pathophysiology. This review describes the appearance and progression of neurological signs and symptoms in patients with MPS I, II, and III, based on presentations and discussions among an international group of experts during a meeting on the brain in MPS on April 28-30, 2016, and additional literature searches on this subject.
黏多糖贮积症（MPS）是一组罕见的遗传性溶酶体贮积症，由参与降解氨基己糖的溶酶体酶的突变引起。在体内，GAG 的积累导致广泛的组织和器官功能障碍。不同 MPS 类型之间以及同一类型内的临床表现的范围、严重程度和进展速度差异很大。除了不同 MPS 疾病之间存在的躯体体征和症状外，MPS I、II、III 和 VII 型患者还存在明显的神经体征和症状，包括认知能力受损、语言和言语困难以及/或行为和睡眠问题。为了有效地管理和开发针对这些神经表现的治疗方法，深入了解其自然病史和病理生理学至关重要。本综述根据 2016 年 4 月 28 日至 30 日在 MPS 大脑会议上国际专家组的介绍和讨论，以及对该主题的其他文献搜索，描述了 MPS I、II 和 III 型患者神经体征和症状的出现和进展。
