Lookup NU author(s): Dr Michael Keogh,
Professor Patrick Chinnery,
Professor Sir John Burn
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Neuroferritinopathy is an autosomal dominant progressive movement disorder which occurs due to mutations in the ferritin light chain gene (FTL1). It presents in mid-adult life and is the only autosomal dominant disease in a group of conditions termed neurodegeneration with brain iron accumulation (NBIA). We performed brain MRI scans on 12 asymptomatic descendants of known mutation carriers. All three harbouring the pathogenic c.460InsA mutation showed iron deposition; these findings show pathological iron accumulation begins in early childhood which is of major importance in understanding and developing treatment for NBIA.
Author(s): Keogh MJ, Jonas P, Coulthard A, Chinnery PF, Burn J
Publication type: Article
Publication status: Published
Print publication date: 26/01/2012
ISSN (print): 1364-6745
ISSN (electronic): 1364-6753
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