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

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

Research output: Contribution to journalArticle

45 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)183-189
Number of pages7
JournalMolecular Genetics and Metabolism
Volume112
Issue number2
DOIs
StatePublished - Jun 2014

Keywords

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

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Molecular Biology
  • Genetics
  • Endocrinology

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    Illingworth, M. A., Meyer, E., Chong, W. K., Manzur, A. Y., Carr, L. J., Younis, R., Hardy, C., McDonald, F., Childs, A. M., Stewart, B., Warren, D., Kneen, R., King, M. D., Hayflick, S. J., & Kurian, M. A. (2014). PLA2G6-associated neurodegeneration (PLAN): Further expansion of the clinical, radiological and mutation spectrum associated with infantile and atypical childhood-onset disease. Molecular Genetics and Metabolism, 112(2), 183-189. https://doi.org/10.1016/j.ymgme.2014.03.008