Neurodegeneration with brain iron accumulation

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

“…Within the spectrum of iron deposition disorders there is a group of genetic diseases that have in common a syndrome of NBIA [32,84,85,86]. These disorders include pantothenate kinase-associated neurodegeneration (PKAN, previously known as Hallervorden-Spatz syndrome) [87,88,89,90], PLA2G6 calcium-independent phospholipase A2 (PLAN) [91,92], infantile neuroaxonal dystrophy (INAD) [93,94], mitochondrial membrane protein-associated neurodegeneration (MPAN) [95,96,97,98], beta-propeller protein-associated neurodegeneration (BPAN) [99,100], CoA synthase protein-associated neurodegeneration (CoPAN) [101,102,103], fatty acid-2 hydroxylase-associated neurodegeneration (FAHN) [104,105], Kufor–Rakeb disease [106,107,108], aceruloplasminemia [109,110] and neuroferritinopathy [111,112].…”

“…Another approach for MFAs is the design of constructs of benzothiazole and 3-hydroxy-4-pyridine connected by a variable linker [83]. Given its hydrophobicity, benzothiazole has strong affinity for amyloid plaques [84,85] while the 3-hydroxy-4-pyridine moiety (deferiprone) has strong Fe 3+ chelation capacity. The linker between these two moieties was modelled in order to obtain AChE inhibitory capacity [83].…”

A 7-Year-Old Girl with Progressive Gait Disturbance

“…Neurodegeneration with brain iron accumulation (NBIA) is a heterogeneous group of inherited neurodegenerative diseases, characterized predominantly by a progressive abnormal movement due to iron deposition in the brain, especially in the basal ganglia, and less common in the substantia nigra and adjacent areas. 1,2 PKAN is an autosomal recessive disorder characterized by mutations in the gene encoding a mitochondrial pantothenate kinase (PANK2) at locus 20p13. It is the most common disorder of the NBIA group.…”