Brain iron quantification by MRI in mitochondrial membrane protein-associated neurodegeneration under iron-chelating therapy

Ulrike Löbel; Ferdinand Schweser; Miriam Nickel; Andreas Deistung; Regine Grosse; Christian Hagel; Jens Fiehler; Angela Schulz; Monika Hartig; Jürgen R Reichenbach; Alfried Kohlschütter; Jan Sedlacik

doi:10.1002/acn3.116

Brain iron quantification by MRI in mitochondrial membrane protein-associated neurodegeneration under iron-chelating therapy

Ann Clin Transl Neurol. 2014 Dec;1(12):1041-6. doi: 10.1002/acn3.116. Epub 2014 Dec 2.

Authors

Affiliations

¹ Department of Diagnostic and Interventional Neuroradiology, University Medical Center Hamburg-Eppendorf Hamburg, Germany.
² Buffalo Neuroimaging Analysis Center, Department of Neurology, School of Medicine and Biomedical Sciences, State University of New York at Buffalo Buffalo, New York, USA ; Buffalo Clinical and Translational Research Center (CTRC), Molecular and Translational Imaging Center, School of Medicine and Biomedical Science, State University of New York at Buffalo Buffalo, New York, USA.
³ Clinic for Degenerative Brain Diseases, Department of Pediatrics, University Medical Center Hamburg-Eppendorf Hamburg, Germany.
⁴ Medical Physics Group, Institute of Diagnostic and Interventional Radiology, Jena University Hospital, Friedrich Schiller University Jena, Germany.
⁵ Department of Pediatric Hematology and Oncology, University Medical Center Hamburg-Eppendorf Hamburg, Germany.
⁶ Institute of Neuropathology, University Medical Center Hamburg-Eppendorf Hamburg, Germany.
⁷ Institute of Human Genetics, Technische Universität München Munich, Germany.

Abstract

Therapeutic trials for Neurodegeneration with Brain Iron Accumulation have aimed at a reduction of cerebral iron content. A 13-year-old girl with mitochondrial membrane protein-associated neurodegeneration treated with an iron-chelating agent was monitored by R2 relaxometry, R2* relaxometry, and quantitative susceptibility mapping to estimate the brain iron content. The highly increased brain iron content slowly decreased in the substantia nigra but remained stable for globus pallidus. The estimated iron content was higher by R2* compared to R2 and quantitative susceptibility mapping, a finding not previously observed in the brain of healthy volunteers. A hypothesis explaining this discrepancy is offered.