Abstract
Neuroferritinopathy is an autosomal dominant extrapyramidal movement disorder, caused by FTL gene mutations. Iron decreases the MR T2* decay time, therefore increasing the R2* (R2* = 1 /T2*), which correlates with brain tissue iron content. 3T structural and quantitative MR imaging assessment of R2* in 10 patients with neuroferritinopathy demonstrated a unique pattern of basal ganglia cavitation involving the substantia nigra in older patients and increasing thalamic R2* signal intensity detectable during 6 months. Increasing R2* signal intensity in the thalamus correlated with progression on a clinical rating scale measuring dystonia severity. Thalamic R2* signal intensity is a clinically useful method of objectively tracking disease progression in this form of neurodegeneration with brain iron accumulation.
Highlights
Neuroferritinopathy is an autosomal dominant extrapyramidal movement disorder caused by mutations in the FTL gene.[1]
Neuroferritinopathy belongs to a clinically and genetically heterogeneous group of NBIA
1.5T brain MR imaging has shown characteristic abnormalities distinguishing neuroferritinopathy from sporadic movement disorders and other genetic subtypes of neurodegeneration with brain iron accumulation
Summary
Progressive Brain Iron Accumulation in Neuroferritinopathy Measured by the Thalamic T2* Relaxation Rate. Neuroferritinopathy is an autosomal dominant extrapyramidal movement disorder caused by mutations in the FTL gene.[1] Seven different mutations have been reported globally, with the 460insA mutation in exon 4 being the most frequent,[2] and all causing basal ganglia neurodegeneration with intracellular accumulation of iron and ferritin.[3,4] The most common presentation of neuroferritinopathy is chorea in midadult life, with most patients developing dystonia as the disease progresses.[2] Neuroferritinopathy belongs to a clinically and genetically heterogeneous group of NBIA.
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