NBIA – neurodegenerace s akumulací železa
| Title in English | NBIA – neurodegeneration with brain iron accumulation |
|---|---|
| Authors | |
| Year of publication | 2016 |
| Type | Article in Periodical |
| Magazine / Source | Neurologie pro praxi |
| MU Faculty or unit | |
| Citation | |
| Field | Neurology, neurosurgery, neurosciences |
| Keywords | neurdegeneration with brain iron accumulation; pantothenat kinase - associated neurodegeneration; phospholipase A2 associated neurodegeneration; tongue-protrusion dystonia |
| Description | Neurodegeneration with brain iron accumulation (NBIA) is a heterogeneous group of genetically-linked neurodegenerative diseases characterized by increased iron accumulation in the basal ganglia. They present with a combination of extrapyramidal symptoms with deterioration of cognitive functions. In most cases, they are diseases with onset in childhood, but adult-onset or late-onset forms are also described. In this paper, we present an overview of recent data on individual types of NBIA with an emphasis on clinical and radiologic findings. In conclusion, we describe a case of a patient with suspected late-onset NBIA. |