PDF(Pubmed)
Abstract：
BACKGROUND: Gaucher disease (GD) is classically divided into three types, based on the presence or absence of neurological signs and symptoms. However, presentation can be highly variable in adulthood, and this aspect has not been adequately addressed in the literature so far. We performed a systematic literature review to analyze the entire spectrum of neurological manifestations in adult patients previously classified as GD type I, II, or III, evaluating the role of variants in different neurological manifestations.
METHODS: We searched databases for studies reporting clinical data of adult GD patients (age ≥ 18). Data extraction included GD types, GBA1 variants, age at disease onset and diagnosis, duration of GD, and age at onset and type of neurological symptoms reported.
RESULTS: Among 4190 GD patients from 85 studies, 555 exhibited neurological symptoms in adulthood. The median age at evaluation was 46.8 years (IQR 26.5), age at neurological symptoms onset was 44 years (IQR 35.1), and age at GD clinical onset was 23 years (IQR 23.4). Parkinsonism, including Parkinson\'s disease and Lewy Body dementia, was the most reported neurological manifestation. Other symptoms and signs encompassed oculomotor abnormalities, peripheral neuropathy, seizures, myoclonus, and cerebellar, cognitive and psychiatric symptoms. The genotype N370S/N370S mostly presented with Parkinsonism and the L444P variant with severe and earlier neurological symptoms.
CONCLUSIONS: The findings of this systematic review highlight: (1) the relevance of a comprehensive neurological assessment in GD patients, and (2) the importance of considering possible undiagnosed GD in adult patients with mild systemic symptoms presenting unexplained neurological symptoms.
METHODS: We searched databases for studies reporting clinical data of adult GD patients (age ≥ 18). Data extraction included GD types, GBA1 variants, age at disease onset and diagnosis, duration of GD, and age at onset and type of neurological symptoms reported.
RESULTS: Among 4190 GD patients from 85 studies, 555 exhibited neurological symptoms in adulthood. The median age at evaluation was 46.8 years (IQR 26.5), age at neurological symptoms onset was 44 years (IQR 35.1), and age at GD clinical onset was 23 years (IQR 23.4). Parkinsonism, including Parkinson\'s disease and Lewy Body dementia, was the most reported neurological manifestation. Other symptoms and signs encompassed oculomotor abnormalities, peripheral neuropathy, seizures, myoclonus, and cerebellar, cognitive and psychiatric symptoms. The genotype N370S/N370S mostly presented with Parkinsonism and the L444P variant with severe and earlier neurological symptoms.
CONCLUSIONS: The findings of this systematic review highlight: (1) the relevance of a comprehensive neurological assessment in GD patients, and (2) the importance of considering possible undiagnosed GD in adult patients with mild systemic symptoms presenting unexplained neurological symptoms.
摘要：
背景：戈谢病（GD）经典分为三种类型，根据是否存在神经系统体征和症状。然而,成年后的表现可能变化很大，到目前为止，这方面的文献还没有得到充分的解决。我们进行了系统的文献综述，以分析先前分类为GDI型的成年患者的神经系统表现的整个范围。II,或者III，评估变异在不同神经系统表现中的作用。
方法：我们在数据库中搜索了报告成人GD患者（年龄≥18岁）临床数据的研究。数据提取包括GD类型，GBA1变体，发病和诊断的年龄，GD的持续时间，以及报告的发病年龄和神经系统症状类型。
结果：在85项研究的4190例GD患者中，555在成年期表现出神经系统症状。评估时的中位年龄为46.8岁（IQR26.5），神经系统症状发作的年龄为44岁（IQR35.1），GD临床发病年龄为23岁（IQR23.4）。帕金森病,包括帕金森病和路易体痴呆，是报道最多的神经系统表现。其他症状和体征包括动眼异常，周围神经病变,癫痫发作,肌阵鸣,和小脑，认知和精神症状。基因型N370S/N370S主要表现为帕金森病，而L444P变异则表现为严重和较早的神经系统症状。
结论：本系统综述的结果强调：（1）GD患者的全面神经系统评估的相关性，和（2）考虑成年患者可能未诊断的GD的重要性，这些患者有轻度的全身症状，表现出无法解释的神经系统症状。
方法：我们在数据库中搜索了报告成人GD患者（年龄≥18岁）临床数据的研究。数据提取包括GD类型，GBA1变体，发病和诊断的年龄，GD的持续时间，以及报告的发病年龄和神经系统症状类型。
结果：在85项研究的4190例GD患者中，555在成年期表现出神经系统症状。评估时的中位年龄为46.8岁（IQR26.5），神经系统症状发作的年龄为44岁（IQR35.1），GD临床发病年龄为23岁（IQR23.4）。帕金森病,包括帕金森病和路易体痴呆，是报道最多的神经系统表现。其他症状和体征包括动眼异常，周围神经病变,癫痫发作,肌阵鸣,和小脑，认知和精神症状。基因型N370S/N370S主要表现为帕金森病，而L444P变异则表现为严重和较早的神经系统症状。
结论：本系统综述的结果强调：（1）GD患者的全面神经系统评估的相关性，和（2）考虑成年患者可能未诊断的GD的重要性，这些患者有轻度的全身症状，表现出无法解释的神经系统症状。
