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学科主题: 临床医学
题名:
Clinical study in Chinese patients with late-infantile form neuronal ceroid lipofuscinoses
作者: Chang, Xingzhi1; Huang, Yu2; Meng, Hongdi3; Jiang, Yuwu1; Wu, Ye1; Xiong, Hui1; Wang, Shuang1; Qin, Hong1
关键词: Neuronal ceroid lipofuscinoses ; Lymphocyte vacuole ; Late-infantile ; Curvilinear bodies ; Tripeptidyl peptidase 1 activity ; CLN2 gene
刊名: BRAIN & DEVELOPMENT
发表日期: 2012-10-01
DOI: 10.1016/j.braindev.2011.12.005
卷: 34, 期:9, 页:739-745
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Clinical Neurology
研究领域[WOS]: Neurosciences & Neurology
关键词[WOS]: CLN6 MUTATIONS ; DIAGNOSIS ; SPECIMENS
英文摘要:

Clinical findings, pathological features and tripeptidyl peptidase 1 (TPP1) activity and genetic mutation analysis data of nine patients affected with the late-infantile form of neuronal ceroid lipofuscinoses (LINCL) in China are systematically reviewed with long-term follow-up. The patients were enrolled if curvilinear bodies were found on lymphocyte, skin or muscle specimens′ examination, and/or reduction of tripeptidyl peptidase 1 (TPP1) activity were detected. CLN2 gene mutation were tested in five patients. The patients have onset age of 2-3.5 years, and most of them initially present partial seizure, and then progressed to deteriorated mental function, refractory myoclonic seizures, impaired vision, and ataxia with cerebellar atrophy. Discrete small vacuolated lymphocytes are found in 5-10% lymphocytes in 5 patients examined. Curvilinear bodies were found in vacuolated lymphocytes, in skin and muscle tissues. Tripeptidyl peptidase 1 (TPP1) activities are reduced in 5 patients with different CLN2 gene mutation. Detection of vacuolated lymphocytes may be a screen method for LINCL, ultrastructural examination of lymphocytes, combined with TPP1 activity assay, allowing for a definite and faster diagnosis and classification with minimal invasion. (C) 2011 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

语种: 英语
所属项目编号: 7092105 ; 200800011069 ; 20090001110075
项目资助者: Beijing Natural Science Foundation of China ; specialized Research Fund for Doctoral Program of Higher Education of China
WOS记录号: WOS:000309017900006
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/62273
Appears in Collections:北京大学第一临床医学院_儿科_期刊论文

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作者单位: 1.Peking Univ, Hosp 1, Dept Pediat, Beijing 100871, Peoples R China
2.Peking Univ, Ctr Hlth, Dept Med Genet, Beijing 100871, Peoples R China
3.Indiana Univ Sch Med, Herman B Wells Ctr Pediat Res, Dept Pediat, Indianapolis, IN 46202 USA

Recommended Citation:
Chang, Xingzhi,Huang, Yu,Meng, Hongdi,et al. Clinical study in Chinese patients with late-infantile form neuronal ceroid lipofuscinoses[J]. BRAIN & DEVELOPMENT,2012,34(9):739-745.
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