TY - JOUR T1 - Progressive Brain Iron Accumulation in Neuroferritinopathy Measured by the Thalamic T2* Relaxation Rate JF - American Journal of Neuroradiology JO - Am. J. Neuroradiol. DO - 10.3174/ajnr.A3036 AU - A. McNeill AU - G. Gorman AU - A. Khan AU - R. Horvath AU - A.M. Blamire AU - P.F. Chinnery Y1 - 2012/04/12 UR - http://www.ajnr.org/content/early/2012/04/12/ajnr.A3036.abstract N2 - SUMMARY: 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. Abbreviations FTLferritin, light polypeptideHDRSHuntington's Disease Rating ScaleNBIAneurodegenerative disorders with brain iron accumulationPKANpantothenate kinase–associated neurodegenerationPLANPLA2G6-associated neurodegenerationR2T2 relaxation rateR2*T2* relaxation rateUDRSUnified Dystonia Rating ScaleUHDRSUnified Huntington's Disease Rating Scale ER -