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. SP - 1810 LP - 1813 DO - 10.3174/ajnr.A3036 VL - 33 IS - 9 AU - A. McNeill AU - G. Gorman AU - A. Khan AU - R. Horvath AU - A.M. Blamire AU - P.F. Chinnery Y1 - 2012/10/01 UR - http://www.ajnr.org/content/33/9/1810.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. 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 -