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Mol Genet Metab. 2014 Jun;112(2):183-9. doi: 10.1016/j.ymgme.2014.03.008. Epub 2014 Mar 29.

PLA2G6-associated neurodegeneration (PLAN): further expansion of the clinical, radiological and mutation spectrum associated with infantile and atypical childhood-onset disease.

Author information

1
Department of Neurology, Great Ormond Street Hospital, London, UK.
2
Neurosciences Unit, UCL-Institute of Child Health, London, UK.
3
Department of Radiology, Great Ormond Street Hospital, London, UK.
4
Dubowitz Neuromuscular Centre for Congenital Muscular Dystrophies and Myopathies, Great Ormond Street Hospital, London, UK.
5
West Midlands Regional Genetics, Birmingham Women's Hospital, Birmingham, UK.
6
Department of Paediatric Neurology, Leeds General Infirmary, Leeds, UK.
7
Department of Paediatrics, York Teaching Hospitals NHS Foundation Trust, York, UK.
8
Department of Neuroradiology, Leeds teaching Hospitals, Leeds. UK.
9
Department of Neurology, Alder Hey Children's Hospital, Liverpool, UK.
10
Department of Paediatric Neurology, Children's University Hospital, Temple Street, Dublin, Ireland.
11
Department of Molecular & Medical Genetics, OR Health & Science University, Portland 97239, USA; Department of Paediatrics, OR Health & Science University, Portland 97239, USA; Department of Neurology, OR Health & Science University, Portland 97239, USA.
12
Department of Neurology, Great Ormond Street Hospital, London, UK; Neurosciences Unit, UCL-Institute of Child Health, London, UK. Electronic address: manju.kurian@ucl.ac.uk.

Abstract

Phospholipase A2 associated neurodegeneration (PLAN) is a major phenotype of autosomal recessive Neurodegeneration with Brain Iron Accumulation (NBIA). We describe the clinical phenotypes, neuroimaging features and PLA2G6 mutations in 5 children, of whom 4 presented with infantile neuroaxonal dystrophy (INAD). One other patient was diagnosed with the onset of PLAN in childhood, and our report highlights the diagnostic challenges associated with this atypical PLAN subtype. In this series, the neuroradiological relevance of classical PLAN features as well as apparent claval hypertrophy' is explored. Novel PLA2G6 mutations were identified in all patients. PLAN should be considered not only in patients presenting with a classic INAD phenotype but also in older patients presenting later in childhood with non-specific progressive neurological features including social communication difficulties, gait disturbance, dyspraxia, neuropsychiatric symptoms and extrapyramidal motor features.

KEYWORDS:

INAD; NBIA; Neurodegeneration with brain iron accumulation; PLA2G6; PLAN

PMID:
24745848
PMCID:
PMC4048546
DOI:
10.1016/j.ymgme.2014.03.008
[Indexed for MEDLINE]
Free PMC Article

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