|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|
|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|
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.
|资助机构||program for New Century Excellent Talents in University from the Chinese Ministry of Education|
|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
|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.|