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 Oct 01
TA  - American Journal of Neuroradiology
PG  - 1810--1813
VI  - 33
IP  - 9
4099  - http://www.ajnr.org/content/33/9/1810.short
4100  - http://www.ajnr.org/content/33/9/1810.full
SO  - Am. J. Neuroradiol.2012 Oct 01; 33
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. 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