A diagnostic approach for neurodegeneration with brain iron accumulation: clinical features, genetics and brain imaging

摘要: Neurodegeneration with brain iron accumulation (NBIA) represents a heterogeneous and complex group of inherited neurodegenerative diseases, characterized by excessive accumulation, particularly in the basal ganglia. Common clinical features NBIA include movement disorders, parkinsonism dystonia, cognitive dysfunction, pyramidal signs, retinal abnormalities. The forms described to date pantothenase kinase-associated neurodegeneration (PKAN), phospholipase A2 associated (PLAN), neuroferritinopathy, aceruloplasminemia, beta-propeller protein-associated (BPAN), Kufor-Rakeb syndrome, mitochondrial membrane (MPAN), fatty acid hydroxylase-associated (FAHN), coenzyme A synthase (CoPAN) Woodhouse-Sakati syndrome. This review is diagnostic approach for cases, from imaging findings genetic etiology.