The natural history of cognitive dysfunction in late-onset GM2 gangliosidosis
The natural history of cognitive dysfunction in late-onset GM2 gangliosidosis
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DOI：
10.1001/archneur.62.6.989
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发表时间：
2005-06-01
影响因子：
--
通讯作者：
Filley, CM
中科院分区：
文献类型：
--
作者：
Frey, LC;Ringel, SP;Filley, CM
背景资料：晚发性GM（2）神经节苷脂沉积症（LGG）是一种罕见的疾病，常被认为是青少年和年轻人的鉴别诊断，他们表现出多个领域的神经功能障碍。认知障碍是常见的，但还没有系统的研究。目的：确定LGG患者的认知功能障碍的自然史。设计：病例系列和文献综述。设置：城市三级转诊诊所。患者：作为LGG起源的氨基己糖苷酶A缺乏的个体。主要结果测量：认知功能障碍、精神症状、小脑、上运动神经元、下运动神经元或锥体外系症状和体征。从62名患者的病史和检查资料中发现，44%的LGG患者有一定程度的认知功能障碍。认知功能障碍与更多的其他基本神经功能缺损相关。在21例具有可接受的纵向信息的患者中，8例（38%）有静态认知障碍，而13例（62%）患者明显存在进行性痴呆，包括我们的2例进行了系列神经心理学测试的病例。神经影像学常表现为非特异性小脑和/或脑萎缩。结论：认知功能障碍是LGG的常见表现。经历认知功能障碍的患者更有可能有更多的疾病的其他神经系统表现。认知功能障碍可能表现为静止性脑病，但进行性痴呆更常见。这种疾病中认知功能障碍的发病机制尚不清楚，需要进一步研究。
Background: Late-onset GM(2) gangliosidosis (LGG) is a rare disease that is often considered in the differential diagnosis of adolescents and young adults who present with multiple realms of neurologic dysfunction. Cognitive disturbances are common but have not been systematically studied.Objective: To determine the natural history of cognitive dysfunction in patients with LGG.Design: Case series and literature review.Setting: Urban tertiary referral clinic.Patients: Individuals with hexosaminidase A deficiency as the origin of LGG.Main Outcome Measures: Cognitive dysfunction, psychiatric symptoms, and cerebellar, upper motor neuron, lower motor neuron, or extrapyramidal symptoms and signs.Results: Historical and examination data from 62 patients were found. Forty-four percent of LGG patients had some degree of cognitive dysfunction. Cognitive dysfunction was associated with a greater number of other elemental neurologic deficits. In 21 patients with acceptable longitudinal information, 8 (38%) had a static cognitive disorder, whereas progressive dementia was evident in 13 patients (62%), including 2 of our cases with serial neuropsychological testing. Neuroimaging often showed nonspecific cerebellar and/or cerebral atrophy.Conclusions: Cognitive dysfunction is a frequent manifestation of LGG. Patients who experience cognitive dysfunction are more likely to have a greater number of other neurologic manifestations of the disease. Cognitive dysfunction may take the form of static encephalopathy, but progressive dementia is more often encountered. The pathogenesis of cognitive dysfunction in this disease is unknown, highlighting the need for further study.