Update on neurodegeneration with brain iron accumulation

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.

New Perspectives in Iron Chelation Therapy for the Treatment of Neurodegenerative Diseases

“…A wide variety of neurological diseases are characterized by the accumulation of iron in different areas of the central nervous system; these diseases include Parkinson’s disease (PD) and other parkinsonisms such as Lewy bodies dementia, progressive supranuclear palsy, corticobasal degeneration [16,17,18,19,20,21], the Westfal variant of Huntington disease [22], Alzheimer’s disease (AD) [23,24,25,26,27], Friedreich’s ataxia [28], pantothenate kinase-associated neurodegeneration [29,30,31] and other neuropathologies associated with brain iron accumulation [32,33,34]. From the pathophysiological standpoint, different mechanisms are observed, so the clinical and therapeutic implications of iron accumulation may be different for each individual disease process [2,35].…”

Novel homozygous PANK2 mutation identified in a consanguineous Chinese pedigree with pantothenate kinase-associated neurodegeneration

“…It was first described by German neuropathologists Hallervorden and Spatz in 1922, therefore is also referred to as HSS (12); however, was subsequently renamed PKAN (13). In the present study, a Chinese 20-year-old female with an 8-year history of unsteady walking and involuntary movements is described.…”

“…PANK2 is an essential regulatory enzyme in coenzyme A biosynthesis (13). In addition, the protein encoded by PANK2 is crucial in the metabolism of pantothenate.…”

All that glitters is not gold: When motor and vocal tics in a child do not match Tourette syndrome: A case report

“…The "eye of the tiger sign" is a specific MRI pattern, typically seen in neurodegeneration with brain iron accumulation (NBIA). 11 PKAN accounts for 50% of NBIA cases and the presence of this sign is a key diagnostic feature of the disease, leading to genetic confirmation. 11 A mutation analysis of PCR amplification in the coding region of the PANK 2 gene confirmed the patient's diagnosis.…”