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Neuroferritinopathy: a new inborn error of iron metabolism

Lookup NU author(s): Dr Michael Keogh, Professor Patrick Chinnery, Professor Sir John BurnORCiD

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Abstract

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.

Publication metadata

Author(s): Keogh MJ, Jonas P, Coulthard A, Chinnery PF, Burn J

Publication type: Article

Publication status: Published

Journal: Neurogenetics

Year: 2012

Volume: 13

Issue: 1

Pages: 93-96

Print publication date: 26/01/2012

ISSN (print): 1364-6745

ISSN (electronic): 1364-6753

Publisher: Springer

URL: http://dx.doi.org/10.1007/s10048-011-0310-9

DOI: 10.1007/s10048-011-0310-9

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