Affordable Access

Publisher Website

Genetics and Pathophysiology of Neurodegeneration with Brain Iron Accumulation (NBIA)

Authors
Journal
Current Neuropharmacology
1570-159X
Publisher
Bentham Science
Publication Date
Volume
11
Issue
1
Identifiers
DOI: 10.2174/157015913804999469
Keywords
  • Article
Disciplines
  • Biology
  • Medicine

Abstract

Our understanding of the syndromes of Neurodegeneration with Brain Iron Accumulation (NBIA) continues to grow considerably. In addition to the core syndromes of pantothenate kinase-associated neurodegeneration (PKAN, NBIA1) and PLA2G6-associated neurodegeneration (PLAN, NBIA2), several other genetic causes have been identified (including FA2H, C19orf12, ATP13A2, CP and FTL). In parallel, the clinical and pathological spectrum has broadened and new age-dependent presentations are being described. There is also growing recognition of overlap between the different NBIA disorders and other diseases including spastic paraplegias, leukodystrophies and neuronal ceroid lipofuscinosis which makes a diagnosis solely based on clinical findings challenging. Autopsy examination of genetically-confirmed cases demonstrates Lewy bodies, neurofibrillary tangles, and other hallmarks of apparently distinct neurodegenerative disorders such as Parkinson’s disease (PD) and Alzheimer’s disease. Until we disentangle the various NBIA genes and their related pathways and move towards pathogenesis-targeted therapies, the treatment remains symptomatic. Our aim here is to provide an overview of historical developments of research into iron metabolism and its relevance in neurodegenerative disorders. We then focus on clinical features and investigational findings in NBIA and summarize therapeutic results reviewing reports of iron chelation therapy and deep brain stimulation. We also discuss genetic and molecular underpinnings of the NBIA syndromes.

There are no comments yet on this publication. Be the first to share your thoughts.

Statistics

Seen <100 times
0 Comments

More articles like this

Transcranial ultrasound in neurodegeneration with...

on European Journal of Paediatric...

Childhood disorders of neurodegeneration with brai...

on Developmental Medicine & Child... May 2011

Defective FA2H leads to a novel form of neurodegen...

on Annals of Neurology November 2010

Defective lipid metabolism in neurodegeneration wi...

on Journal of Inherited Metabolic... January 2015
More articles like this..