Pathophysiology and Management of Neuroferritinopathy

Review Article

Abstract

Neuroferritinopathy, a rare autosomal dominant disorder, emerges from mutations in the ferritin light chain gene (FTL), leading to disrupted iron homeostasis and progressive neurodegeneration. The condition primarily affects the basal ganglia, manifesting through a spectrum of movement disorders, psychiatric symptoms, and cognitive decline. Since its initial description in 2001, significant progress has been made in elucidating its genetic basis and pathophysiological mechanisms. The clinical presentation typically includes chorea, dystonia, and various psychiatric manifestations, often appearing in mid-adulthood. Diagnosis relies on a combination of clinical features, neuroimaging showing characteristic iron accumulation patterns, and genetic testing confirming FTL mutations. Current treatment options focus on symptom management through pharmacological interventions, physical therapy, and supportive care. While iron chelation therapy has shown promise in preclinical studies, no disease-modifying treatments have been established. Recent advances in treatment include gene therapy, targeted iron metabolism modulators, and neuroprotective strategies. The complex nature of neuroferritinopathy requires a multidisciplinary collaboration to patient care, involving neurologists, psychiatrists, genetic counselors, and rehabilitation specialists