title: Progressive brain iron accumulation in neuroferritinopathy measured by the thalamic T2* relaxation rate.
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.
authors.affiliation: Department of Clinical Neurosciences, University College London Institute of Neurology, Royal Free Hospital Medical School, London, UK.
authors.forename: A
authors.initials: A
authors.lastname: McNeill
authors.forename: G
authors.initials: G
authors.lastname: Gorman
authors.forename: A
authors.initials: A
authors.lastname: Khan
authors.forename: R
authors.initials: R
authors.lastname: Horvath
authors.forename: A M
authors.initials: AM
authors.lastname: Blamire
authors.forename: P F
authors.initials: PF
authors.lastname: Chinnery
mesh_terms: D000328:Adult; D005260:Female; D006801:Humans; D007090:Image Interpretation, Computer-Assisted / Q000379:methods*; D007501:Iron / Q000378:metabolism*; D019189:Iron Metabolism Disorders / Q000150:complications / Q000378:metabolism* / Q000473:pathology; D019190:Iron Overload / Q000150:complications / Q000378:metabolism* / Q000473:pathology; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D008875:Middle Aged; D019150:Neuroaxonal Dystrophies / Q000150:complications / Q000378:metabolism* / Q000473:pathology; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity; D013788:Thalamus / Q000378:metabolism* / Q000473:pathology
chemical_list: D007501:Iron