Neuronopathic Gaucher disease: demographic and clinical features of 131 patients enrolled in the International Collaborative Gaucher Group Neurological Outcomes Subregistry
Neuronopathic Gaucher disease: demographic and clinical features of 131 patients enrolled in the International Collaborative Gaucher Group Neurological Outcomes Subregistry
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DOI：
10.1007/s10545-009-9009-6
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发表时间：
2010-08-01
影响因子：
4.2
通讯作者：
Kolodny, Edwin
中科院分区：
文献类型：
--
作者：
Tylki-Szymanska, Anna;Vellodi, Ashok;Kolodny, Edwin
描述神经病理性高谢病(NGD)患者的人口学、遗传学和临床特征。截至2007年6月，所有登记在国际合作高谢尔小组(ICGG)高谢亚登记处的患者均已确定。研究队列包括来自17个国家的131名登记在神经结果分登记处的患者。发病年龄在2岁以下者占47%(61/131)，2岁或2岁以上者占41%(54/131)，无法确诊的占12%(16/131)。最常见的表现是不能往上或往下看(45%，123人中有55人)，物体追踪异常缓慢(43%，123人中有53人)，收敛斜视(36%，121人中有44人)，以及共济失调(15%~20%，117人中有18~27人)。122例患者中有19例(16%)报告了癫痫发作，121例患者中有3例(2%)报告了肌阵挛发作。最常见的基因型是L444P/L444P(76/108，70%)、L444P/D409H(9/108，8%)、D409H/D409H(8/108，7%)和L444P/稀有等位基因(6/108，6%)。最常见的神经系统症状和表现是脑干异常和精细运动功能障碍。最常见的基因型为L444P/L444P。
To describe demographic, genetic, and clinical characteristics of patients with neuronopathic Gaucher disease (NGD).All patients enrolled in the Neurological Outcomes Subregistry of the International Collaborative Gaucher Group (ICGG) Gaucher Registry as of June 2007 were identified.The study cohort comprised 131 patients from 17 countries who were enrolled in the Neurological Outcomes Subregistry. The onset of neurological manifestations had occurred before 2 years of age in 47% (61 out of 131 patients), 2 years of age or older in 41% (54 out of 131), and could not be ascertained in the remaining 12% (16 out of 131). The most common manifestations were inability to look to the extreme up or down (45%, 55 out of 123), abnormally slow object tracking (43%, 53 out of 123), convergent squint (36%, 44 out of 121), and ataxia (15 to 20%, 18-27 out of 117). Seizures were reported in 19 out of 122 patients (16%), and myoclonic seizures were reported in 3 out of 121 patients (2%). The most common genotypes were L444P/L444P (76 out of 108, 70%), L444P/D409H (9 out of 108, 8%), D409H/D409H (8 out of 108, 7%), and L444P/rare allele (6 out of 108, 6%); full sequencing was not performed in all patients.Neurological manifestations of GD often begin to appear before the age of 2 years. The most common neurological signs and manifestations are brainstem abnormalities and fine motor dysfunction. The most common genotype is L444P/L444P.