Neurodegeneration with brain iron accumulation

Potential Indications – Neurodegeneration with brain iron accumulation

Discover a potential indication of QSMetric™ technology.

Neurodegeneration due to intracerebral iron accumulation (NBIA) is a group of genetic diseases characterised by a constant accumulation of iron in specific regions of the brain. Neuroferritinopathies and aceruloplasminemias are the two main categories of mutations, but there are many metabolic pathways involved in this family of diseases: lipid metabolism, mitochondrial function, lysosomal activity and autophagy.

Diagnosis is complex, with a wide range of symptoms and multiple pathophysiological processes. The accumulation of intracerebral iron is the common feature of this family of pathologies. Quantification of this accumulation by MRI has been described as a potential diagnostic assistance method.

Reviewed by Dr C. ANGELINI

Banque Nationale de Données Maladies Rares, Nombre de cas par maladie rare dans la BNDMR
OrphaNet
Lehéricy et al, “MRI of neurodegeneration with brain iron accumulation” Curr Opin Neurol, 2020
Levi et al, “Neurodegeneration with brain iron accumulation: update on pathogenic mechanisms”, Front Pharmacol. 2014