Neurol. praxi. 2012;13(3):140-145

Parkinsonian syndrome and extrapyramidal symptoms in neurodegenerative

MUDr.Petra Bártová, Ph.D.

Neurologická klinika FN Ostrava

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.

aceruloplasminaemia, haemochromatosis.

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

Published: May 31, 2012  Show citation