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NEUROLOGY 2008;70:1614-1619
© 2008 American Academy of Neurology

T2* and FSE MRI distinguishes four subtypes of neurodegeneration with brain iron accumulation

A. McNeill, MRCP (UK), D. Birchall, FRCR, S. J. Hayflick, MD, A. Gregory, J. F. Schenk, PhD, E. A. Zimmerman, MD, H. Shang, MD, H. Miyajima, MD and P. F. Chinnery, PhD, FRCP

From the Departments of Neurology (A.M., P.F.C.) and Neuroradiology (D.B.), Regional Neurosciences Centre, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK; Department of Molecular and Medical Genetics (S.J.H., A.G.), School of Medicine, Oregon Health & Science University, Portland; Albany Medical College (J.F.S., E.A.Z.), Albany, NY; Department of Neurology (H.S.), West China Hospital, Sichuan University, Chengdu, Sichuan, China; First Department of Medicine (Neurology) (H.M.), Hamamatsu University School of Medicine, Hamamatsu, Japan; and Institute of Human Genetics (P.F.C.), University of Newcastle upon Tyne.

Address correspondence and reprint requests to Dr. Patrick F. Chinnery, The Medical School, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK p.f.chinnery{at}ncl.ac.uk

Background: Neurodegeneration with brain iron accumulation (NBIA) defines a group of genetic disorders characterized by brain iron deposition and associated with neuronal death. The known causes of NBIA include pantothenate kinase-associated neurodegeneration (PKAN), neuroferritinopathy, infantile neuroaxonal dystrophy (INAD), and aceruloplasminemia.

Objective: To define the radiologic features of each NBIA subtype.

Methods: Brain MRIs from patients with molecularly confirmed PKAN (26 cases), neuroferritinopathy (21 cases), INAD (four cases), and aceruloplasminemia (10 cases) were analyzed blindly to delineate patterns of iron deposition and neurodegeneration.

Results: In most cases of PKAN, abnormalities were restricted to globus pallidus and substantia nigra, with 100% having an eye of the tiger sign. In a minority of PKAN cases there was hypointensity of the dentate nuclei (1/5 on T2* sequences, 2/26 on fast spin echo [FSE]). In INAD, globus pallidus and substantia nigra were involved on T2* and FSE scans, with dentate involvement only seen on T2*. By contrast, neuroferritinopathy had consistent involvement of the dentate nuclei, globus pallidus, and putamen, with confluent areas of hyperintensity due to probable cavitation, involving the pallida and putamen in 52%, and a subset having lesions in caudate nuclei and thalami. More uniform involvement of all basal ganglia and the thalami was typical in aceruloplasminemia, but without cavitation.

Conclusions: In the majority of cases, different subtypes of neurodegeneration associated with brain iron accumulation can be reliably distinguished with T2* and T2 fast spin echo brain MRI, leading to accurate clinical and subsequent molecular diagnosis.

Abbreviations: FSE = fast spin echo; INAD = infantile neuroaxonal dystrophy; NBIA = neurodegeneration associated with brain iron accumulation; PKAN = pantothenate kinase associated neurodegeneration; ROI = region of interest.

P.F.C. is a Wellcome Trust Senior Fellow in Clinical Science who also receives funding from the United Mitochondrial Diseases Foundation, the PD Society (UK), and the EU FP program EUmitocombat and MITOCIRCLE. This work was also supported by grants to S.J.H. from the National Institute of Child Health and Human Development, the National Eye Institute, L’Association Internationale De Dystrophie Neuro Axonale Infantile, and the NBIA Disorders Association, with additional support from the Oregon Clinical and Translational Research Institute (OCTRI), grant number UL1 RR024140 01 from the National Center for Research Resources (NCRR), a component of the NIH, and NIH Roadmap for Medical Research.

Disclosure: The authors report no conflicts of interest.

Received August 1, 2007. Accepted in final form January 7, 2008.






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