Neuroferritinopathy.
Neuroferritinopathy (MIM 606159, also labeled hereditary ferritinopathy and neurodegeneration with brain iron accumulation type 2, NBIA2) is an adult-onset progressive movement disorder caused by mutations in the ferritin light chain gene (FTL1). Four pathogenic mutations in FTL1 have been described to date; 460insA was our original founder mutation in Cumbria, North West England, where it arose before 1800. The same mutation appears to have arisen separately in France. The resulting altered reading frame extends the peptide, disrupting the ferritin dodecahedron structure and causing accumulation of ferritin and iron, primarily in central neurons. A wide range of neurologic symptoms may occur; 50% present with chorea, 43% with limb dystonia, and 7% with Parkinsonian features. The disorder provides a direct link between disordered iron storage and a neurodegenerative disease, opening new avenues for treatment by altering brain iron stores in addition to symptomatic treatments such as local Botulinum toxin and oral anti oxidants.
Burn
John
J
Institute of Human Genetics, Newcastle University, Newcastle on Tyne, UK. John.burn@newcastle.ac.uk
Chinnery
Patrick F
PF
D000818:Animals; D002874:Chromosome Mapping; D005293:Ferritins / Q000235:genetics* / Q000378:metabolism*; D005787:Gene Frequency; D006801:Humans; D019189:Iron Metabolism Disorders / Q000235:genetics* / Q000378:metabolism*; D019636:Neurodegenerative Diseases / Q000235:genetics* / Q000378:metabolism*; D010375:Pedigree; D010641:Phenotype
D005293:Ferritins