PMID- 22934738
OWN - NLM
STAT- MEDLINE
DCOM- 20130718
LR  - 20221207
IS  - 1468-1331 (Electronic)
IS  - 1351-5101 (Linking)
VI  - 20
IP  - 2
DP  - 2013 Feb
TI  - Follow-up study of 25 Chinese children with PLA2G6-associated neurodegeneration.
PG  - 322-30
LID - 10.1111/j.1468-1331.2012.03856.x [doi]
AB  - 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.
CI  - (c) 2012 The Author(s) European Journal of Neurology (c) 2012 EFNS.
FAU - Zhang, P
AU  - Zhang P
AD  - Department of Pediatrics, Peking University First Hospital, Beijing.
FAU - Gao, Z
AU  - Gao Z
FAU - Jiang, Y
AU  - Jiang Y
FAU - Wang, J
AU  - Wang J
FAU - Zhang, F
AU  - Zhang F
FAU - Wang, S
AU  - Wang S
FAU - Yang, Y
AU  - Yang Y
FAU - Xiong, H
AU  - Xiong H
FAU - Zhang, Y
AU  - Zhang Y
FAU - Bao, X
AU  - Bao X
FAU - Xiao, J
AU  - Xiao J
FAU - Wu, X
AU  - Wu X
FAU - Wu, Y
AU  - Wu Y
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20120831
PL  - England
TA  - Eur J Neurol
JT  - European journal of neurology
JID - 9506311
RN  - E1UOL152H7 (Iron)
RN  - EC 3.1.1.4 (Group VI Phospholipases A2)
RN  - EC 3.1.1.4 (PLA2G6 protein, human)
SB  - IM
MH  - Asian People/*genetics
MH  - Atrophy/pathology
MH  - Brain/metabolism/pathology
MH  - Child
MH  - Child, Preschool
MH  - DNA Copy Number Variations/genetics
MH  - Female
MH  - Follow-Up Studies
MH  - Genotype
MH  - Group VI Phospholipases A2/*genetics
MH  - Humans
MH  - Iron/metabolism
MH  - Magnetic Resonance Imaging
MH  - Male
MH  - Mutation/genetics
MH  - Nerve Degeneration/*genetics/metabolism/pathology
MH  - Neuroaxonal Dystrophies/diagnosis/*genetics/metabolism/pathology
MH  - Neuroimaging
MH  - Phenotype
EDAT- 2012/09/01 06:00
MHDA- 2013/07/19 06:00
CRDT- 2012/09/01 06:00
PHST- 2012/05/11 00:00 [received]
PHST- 2012/07/12 00:00 [accepted]
PHST- 2012/09/01 06:00 [entrez]
PHST- 2012/09/01 06:00 [pubmed]
PHST- 2013/07/19 06:00 [medline]
AID - 10.1111/j.1468-1331.2012.03856.x [doi]
PST - ppublish
SO  - Eur J Neurol. 2013 Feb;20(2):322-30. doi: 10.1111/j.1468-1331.2012.03856.x. Epub 
      2012 Aug 31.