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学科主题临床医学
Follow-up study of 25 Chinese children with PLA2G6-associated neurodegeneration
Zhang, P.1; Gao, Z.1; Jiang, Y.1; Wang, J.1; Zhang, F.2; Wang, S.1; Yang, Y.1; Xiong, H.1; Zhang, Y.1; Bao, X.1; Xiao, J.1; Wu, X.1; Wu, Y.1
关键词Chinese neuroaxonal dystrophy neurodegeneration with brain iron accumulation PLA2G6
刊名EUROPEAN JOURNAL OF NEUROLOGY
2013-02-01
DOI10.1111/j.1468-1331.2012.03856.x
20期:2页:322-330
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Clinical Neurology ; Neurosciences
研究领域[WOS]Neurosciences & Neurology
关键词[WOS]INFANTILE NEUROAXONAL DYSTROPHY ; PHOSPHOLIPASE A(2) ; PLA2G6 MUTATION ; DYSTONIA-PARKINSONISM ; PHENOTYPIC SPECTRUM ; ONSET PARKINSONISM ; BRAIN IRON
英文摘要

Background: To perform a follow-up of 25 Chinese children with gene-confirmed PLA2G6-associated neurodegeneration (PLAN).

Methods: We recruited patients with infantile neuroaxonal dystrophy (INAD) according to the criteria proposed by Nardocci et al. Follow-up was conducted from 7 months to 8 years after the first visit. The PLA2G6 gene was sequenced, and copy number variation (CNV) was detected in patients with only one mutant allele and in mutation-negative patients. Patients with late-onset PLAN until 2012 were reviewed.

Results: All patients with INAD exhibited rapid decline in motor and mental function, consistent with previous reports from other populations. Epileptic seizures occurred in 16.7%. One teenager with late-onset PLAN was diagnosed and followed up. The age of disease onset in published late-onset PLAN ranged between 18 months and 37 years. Initial presentations included gait instability (79.0%), mood/behavior changes (10.5%), dysarthria (5.26%) and cognitive deterioration (5.3%). Compared with INAD, cerebellar atrophy (42.1%) was less frequent in the late-onset cases, with cerebral atrophy more common (71.4%). Brain iron accumulation was seen in 52.6%. PLA2G6 mutations were identified by DNA sequencing in 92.3% of clinically diagnosed INAD cases and in the late-onset case. Twenty-seven different mutations were found, of which 13 were novel. No CNVs were detected. Maternal uniparental disomy was confirmed in one INAD case.

Conclusions: This is the largest report on PLAN in the Chinese population. We suggest that PLA2G6 should be screened in any patient exhibiting progressive gait disturbance, bradykinesia, dysarthria, tremors, mood/behavior changes or cognitive decline, especially when associated with cerebellar atrophy and/or iron accumulation and/or cerebral atrophy.

语种英语
WOS记录号WOS:000314997200021
引用统计
被引频次:14[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/62219
专题北京大学第三临床医学院_运动医学研究所
北京大学护理学院_护理学院
北京大学第一临床医学院_儿科
作者单位1.Peking Univ, Hosp 1, Dept Pediat, Beijing 100034, Peoples R China
2.Fudan Univ, Sch Life Sci, Shanghai 200433, Peoples R China
推荐引用方式
GB/T 7714
Zhang, P.,Gao, Z.,Jiang, Y.,et al. Follow-up study of 25 Chinese children with PLA2G6-associated neurodegeneration[J]. EUROPEAN JOURNAL OF NEUROLOGY,2013,20(2):322-330.
APA Zhang, P..,Gao, Z..,Jiang, Y..,Wang, J..,Zhang, F..,...&Wu, Y..(2013).Follow-up study of 25 Chinese children with PLA2G6-associated neurodegeneration.EUROPEAN JOURNAL OF NEUROLOGY,20(2),322-330.
MLA Zhang, P.,et al."Follow-up study of 25 Chinese children with PLA2G6-associated neurodegeneration".EUROPEAN JOURNAL OF NEUROLOGY 20.2(2013):322-330.
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