Neurodegeneration with brain iron accumulation

Abstract

Neurodegeneration with brain iron accumulation (NBIA) is aclinically and genetically heterogeneous group of hereditary (predominantlyautosomal recessive) progressive disorders of the CNSwith a common feature of iron accumulation in basal ganglia andcharacteristic MRI image. By now, nine genes responsible for differentNBIA are known, and some of these genes cause the developmentof several allelic phenotypes. In the review, current data onNBIA clinical and molecular genetic aspects, particularly onrecently discovered forms and atypical clinical variants, are summarized.

Keywords

• neurodegeneration with brain iron accumulation
• genetic heterogeneity
• dna testing
• mri
• basal ganglia
• extrapyramidal disorders