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PT  - JOURNAL ARTICLE
AU  - McNeill, A.
AU  - Gorman, G.
AU  - Khan, A.
AU  - Horvath, R.
AU  - Blamire, A.M.
AU  - Chinnery, P.F.
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&#039;s Disease Rating ScaleNBIAneurodegenerative disorders with brain iron accumulationPKANpantothenate kinase–associated neurodegenerationPLANPLA2G6-associated neurodegenerationR2T2 relaxation rateR2*T2* relaxation rateUDRSUnified Dystonia Rating ScaleUHDRSUnified Huntington&#039;s Disease Rating Scale