Neurological diseases and metabolism

Neurodegeneration with brain iron accumulation (NBIA) encompasses a group of rare genetic disorders in which iron deposits build up abnormally in specific brain regions, progressively impairing movement, cognition, and other neurological functions. Mutations in genes governing core metabolic pathways — including *PANK2*, which encodes an enzyme critical for Coenzyme A biosynthesis, and *PLA2G6*, which encodes a phospholipase involved in membrane remodeling — disrupt cellular lipid and energy metabolism in ways that remain only partially understood, yet converge on iron dysregulation and neuronal death. Characteristic imaging findings, such as the "eye of the tiger" sign on MRI reflecting iron deposition in the globus pallidus, have helped clinicians distinguish subtypes, though the precise mechanisms linking metabolic dysfunction to iron accumulation and to ferritin dynamics are still being worked out. Active research is focused on clarifying these pathways at the molecular level and on identifying therapeutic targets that might slow or interrupt the neurodegenerative cascade before irreversible damage occurs.

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Keywords

NeurodegenerationBrain Iron AccumulationPantothenate KinaseCoenzyme AGenetic MutationsPhospholipase A2