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学科主题: 临床医学
题名:
Follow-up study of 25 Chinese children with PLA2G6-associated neurodegeneration
作者: 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
发表日期: 2013-02-01
DOI: 10.1111/j.1468-1331.2012.03856.x
卷: 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
项目资助者: program for New Century Excellent Talents in University from the Chinese Ministry of Education
WOS记录号: WOS:000314997200021
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/62219
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 100034, Peoples R China
2.Fudan Univ, Sch Life Sci, Shanghai 200433, Peoples R China

Recommended Citation:
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.
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