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Progressive Brain Iron Accumulation in Neuroferritinopathy Measured by the Thalamic T2*Relaxation Rate

Lookup NU author(s): Professor Grainne Gorman, Professor Rita HorvathORCiD, Professor Andrew BlamireORCiD, Professor Patrick Chinnery

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Abstract

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.

Publication metadata

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

Year: 2012

Volume: 33

Issue: 9

Pages: 1810-1813

Print publication date: 01/10/2012

ISSN (print): 0195-6108

ISSN (electronic): 1936-959X

Publisher: American Society of Neuroradiology

URL: http://dx.doi.org/10.3174/ajnr.A3036

DOI: 10.3174/ajnr.A3036

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