RGD Reference Report - Follow-up study of 25 Chinese children with PLA2G6-associated neurodegeneration. - Rat Genome Database

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Follow-up study of 25 Chinese children with PLA2G6-associated neurodegeneration.

Authors: Zhang, P  Gao, Z  Jiang, Y  Wang, J  Zhang, F  Wang, S  Yang, Y  Xiong, H  Zhang, Y  Bao, X  Xiao, J  Wu, X  Wu, Y 
Citation: Zhang P, etal., Eur J Neurol. 2013 Feb;20(2):322-30. doi: 10.1111/j.1468-1331.2012.03856.x. Epub 2012 Aug 31.
RGD ID: 12910703
Pubmed: (View Article at PubMed) PMID:22934738
DOI: Full-text: DOI:10.1111/j.1468-1331.2012.03856.x

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.

Disease Annotations    

Objects Annotated

Genes (Rattus norvegicus)
Pla2g6  (phospholipase A2 group VI)

Genes (Mus musculus)
Pla2g6  (phospholipase A2, group VI)

Genes (Homo sapiens)
PLA2G6  (phospholipase A2 group VI)

Additional Information