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Update on neurodegeneration with brain iron accumulation
- Department of Neurology, Poznan University of Medical Sciences, Poznan, Poland
open access
Abstract
Neurodegeneration with brain iron accumulation (NBIA) defines a heterogeneous group of progressive neurodegenerative disorders characterized by excessive iron accumulation in the brain, particularly affecting the basal ganglia. In the recent years considerable development in the field of neurodegenerative disorders has been observed. Novel genetic methods such as autozygosity mapping have recently identified several genetic causes of NBIA. Our knowledge about clinical spectrum has broadened and we are now more aware of an overlap between the different NBIA disorders as well as with other diseases. Neuropathologic point of view has also been changed. It has been postulated that pantothenate kinase-associated neurodegeneration (PKAN) is not synucleinopathy. However, exact pathologic mechanism of NBIA remains unknown. The situation implicates a development of new therapies, which still are symptomatic and often unsatisfactory. In the present review, some of the main clinical presentations, investigational findings and therapeutic results of the different NBIA disorders will be presented.
Abstract
Neurodegeneration with brain iron accumulation (NBIA) defines a heterogeneous group of progressive neurodegenerative disorders characterized by excessive iron accumulation in the brain, particularly affecting the basal ganglia. In the recent years considerable development in the field of neurodegenerative disorders has been observed. Novel genetic methods such as autozygosity mapping have recently identified several genetic causes of NBIA. Our knowledge about clinical spectrum has broadened and we are now more aware of an overlap between the different NBIA disorders as well as with other diseases. Neuropathologic point of view has also been changed. It has been postulated that pantothenate kinase-associated neurodegeneration (PKAN) is not synucleinopathy. However, exact pathologic mechanism of NBIA remains unknown. The situation implicates a development of new therapies, which still are symptomatic and often unsatisfactory. In the present review, some of the main clinical presentations, investigational findings and therapeutic results of the different NBIA disorders will be presented.
Keywords
NBIA, PKAN, PLA26G, Eye of the tiger sign
Title
Update on neurodegeneration with brain iron accumulation
Journal
Neurologia i Neurochirurgia Polska
Issue
Article type
Review Article
Pages
206-213
Page views
368
Article views/downloads
557
DOI
10.1016/j.pjnns.2014.05.001
Bibliographic record
Neurol Neurochir Pol 2014;48(3):206-213.
Keywords
NBIA
PKAN
PLA26G
Eye of the tiger sign
Authors
Karolina Popławska-Domaszewicz
Jolanta Florczak-Wyspiańska
Wojciech Kozubski