Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease.

摘要: We describe here a previously unknown, dominantly inherited, late-onset basal ganglia disease, variably presenting with extrapyramidal features similar to those of Huntington's disease (HD) or parkinsonism. mapped the disorder, by linkage analysis, 19q13.3, which contains gene for ferritin light polypeptide (FTL). found an adenine insertion at position 460–461 that is predicted alter carboxy-terminal residues product. Brain histochemistry disclosed abnormal aggregates and iron. Low serum levels also characterized patients. Ferritin, main iron storage protein, composed 24 subunits two types (heavy, H light, L) form soluble, hollow sphere1. deposition increases normally age, especially in ganglia, suspected causative factor several neurodegenerative diseases2 it correlates visible pathology3, possibly its involvement toxic free-radical reactions4. same mutation five apparently unrelated subjects symptoms. An abnormality strongly indicates primary function pathogenesis this new we propose name 'neuroferritinopathy'.