open access

Vol 48, No 3 (2014)
Review article
Submitted: 2014-03-27
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Update on neurodegeneration with brain iron accumulation

Karolina Popławska-Domaszewicz, Jolanta Florczak-Wyspiańska, Wojciech Kozubski
DOI: 10.1016/j.pjnns.2014.05.001
·
Neurol Neurochir Pol 2014;48(3):206-213.

open access

Vol 48, No 3 (2014)
Review article
Submitted: 2014-03-27

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.

Get Citation

Keywords

NBIA, PKAN, PLA26G, Eye of the tiger sign

About this article
Title

Update on neurodegeneration with brain iron accumulation

Journal

Neurologia i Neurochirurgia Polska

Issue

Vol 48, No 3 (2014)

Pages

206-213

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

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