RT Journal Article
SR Electronic
T1 Progressive Brain Iron Accumulation in Neuroferritinopathy Measured by the Thalamic T2* Relaxation Rate
JF American Journal of Neuroradiology
JO Am. J. Neuroradiol.
FD American Society of Neuroradiology
SP 1810
OP 1813
DO 10.3174/ajnr.A3036
VO 33
IS 9
A1 McNeill, A.
A1 Gorman, G.
A1 Khan, A.
A1 Horvath, R.
A1 Blamire, A.M.
A1 Chinnery, P.F.
YR 2012
UL http://www.ajnr.org/content/33/9/1810.abstract
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