EC Neurology

Neurodegeneration with brain iron accumulation (NBIA) is a group of hereditary disorders characterized by abnormal iron accumulation in the basal ganglia, mainly in the globus pallidus (GP) and substantia nigra (SN) [1]. Several autosomal recessive NBIA syndromes can present during childhood, with pantothenate kinase-associated neurodegeneration (PKAN; caused by mutations in the PANK2 gene) and phospholipase A2 group 6-associated neurodegeneration (PLAN; linked to genetic defects in PLA2G6) being the most common [2].

1. Hogarth P. “Neurodégénérescence avec accumulation cérébrale de fer: diagnostic et prise en charge”. Journal of Movement Disorders 8 (2015): 1-13.
2. Manju A Kurian., et al. “Childhood disorders of neurodegeneration with brain iron accumulation (NBIA)”. Developmental Medicine and Child Neurology 5 (2011): 394-404.
3. Hyman M Schipper. “Neurodegeneration with brain iron accumulation - Clinical syndromes and neuroimaging”. Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease3 (2012): 350-360.
4. Lehéricy S., et al. “IRM de la neurodégénérescence avec accumulation cérébrale de fer”. Current Opinion in Neurology 4 (2020): 462-473.