PT  - JOURNAL ARTICLE
AU  - A. McNeill
AU  - G. Gorman
AU  - A. Khan
AU  - R. Horvath
AU  - A.M. Blamire
AU  - P.F. Chinnery
TI  - Progressive Brain Iron Accumulation in Neuroferritinopathy Measured by the Thalamic T2* Relaxation Rate
AID  - 10.3174/ajnr.A3036
DP  - 2012 Apr 12
TA  - American Journal of Neuroradiology
4099  - http://www.ajnr.org/content/early/2012/04/12/ajnr.A3036.short
4100  - http://www.ajnr.org/content/early/2012/04/12/ajnr.A3036.full
AB  - 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