Neurológia pre prax 3/2012

Parkinsonian syndrome and extrapyramidal symptoms in neurodegenerative diseases associated with disorders of iron metabolism

Iron plays a significant role in the human body. Neurodegeneration with brain iron accumulation (NBIA) characterizes a heterogeneous group of neurodegenerative diseases associated with iron accumulation in the central areas of the brain. The most common disease of this group is pantothenate kinase-associated neurodegeneration (PKAN), an autosomal recessive disease characterized by a mutation in the PANK2 gene and impaired metabolism of coenzyme A. Also included here are phospholipase A2-associated neurodegeneration caused by a mutation in the PLA2G6 gene and conditions, such as neuroferritinopathy, aceruloplasminaemia, and others, that currently belong to the NBIA group. Iron metabolism is also linked to other systemic conditions, e.g. haemochromatosis. The paper presents the characteristic features, clinical manifestations as well as the options for diagnosis and differential diagnosis of these conditions.

Keywords: neurodegeneration with brain iron accumulation, pantothenate kinase-associated neurodegeneration, neuroferritinopathy, aceruloplasminaemia, haemochromatosis.