PLA2G6-associated neurodegeneration (PLAN): further expansion of the clinical, radiological and mutation spectrum associated with infantile and atypical childhood-onset disease.
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| 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.
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| Authors | M A Illingworth, E Meyer, W K Chong, A Y Manzur, L J Carr, R Younis, C Hardy, F McDonald, A M Childs, B Stewart, D Warren, R Kneen, M D King, S J Hayflick, M A Kurian |
| Journal | Molecular genetics and metabolism (Mol Genet Metab) Vol. 112 Issue 2 Pg. 183-9 (Jun 2014) ISSN: 1096-7206 [Electronic] United States |
| PMID | 24745848 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't) |
| Copyright | Copyright © 2014 The Authors. Published by Elsevier Inc. All rights reserved. |
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