Heather Biggs

Apr 1, 2024 | onlinelibrary.wiley.com | Alexander G. Murley |Catarina Rua |Invicro London |Heather Biggs

Introduction Neuroferritinopathy (OMIM #606159) is a disorder of neurodegeneration with brain iron accumulation (NBIA type 3), typically presenting in mid-adulthood with a slowly progressive movement disorder and cognitive impairment.1 Most affected individuals have a single base insertion in exon 4 (c460InsA)2 of the ferritin light chain (FTL) gene but six other mutations in the same gene have been identified.3 All variants likely restrict ferritin iron-sequestering, causing iron deposition...