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Lookup NU author(s): Professor Grainne Gorman,
Professor Rita HorvathORCiD,
Professor Andrew BlamireORCiD,
Professor Patrick Chinnery
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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. 31 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.
Author(s): McNeill A, Gorman G, Khan A, Horvath R, Blamire AM, Chinnery PF
Publication type: Article
Publication status: Published
Journal: American Journal of Neuroradiology
Print publication date: 01/10/2012
ISSN (print): 0195-6108
ISSN (electronic): 1936-959X
Publisher: American Society of Neuroradiology
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