Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Multicenter Study
. 2008 Apr 29;70(18):1614-9.
doi: 10.1212/01.wnl.0000310985.40011.d6.

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

A McNeill  1 , D Birchall, S J Hayflick, A Gregory, J F Schenk, E A Zimmerman, H Shang, H Miyajima, P F Chinnery
Affiliations
Multicenter Study

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

A McNeill et al. Neurology. .

Abstract

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.

PubMed Disclaimer

Figures

None
Figure 1 T2 gradient echo images (A) T2* MRI scan from 17-year-old boy with pantothenate kinase associated neurodegeneration. Note bilateral eye of the tiger sign in globus pallidus. (B) T2* MRI scan from 9-year-old girl with infantile neuroaxonal dystrophy. Note bilateral hypointensity of globus pallidus. (C) T2* MRI scan from a 69-year-old woman with neuroferritinopathy. Note hypointensity of globus pallidus, putamen, caudate, and thalamus. (D) T2* MRI scan from a 55-year-old man with aceruloplasminemia. Note hypointensity of globus pallidus, putamen, caudate, and thalamus.
None
Figure 2 T2 gradient echo image of a 45-year-old woman with neuroferritinopathy Note bilateral eye of the tiger sign in globus pallidus and thalamic hypointensity.
None
Figure 3 Fast spin echo (FSE) images (A) FSE from 17-year-old boy with pantothenate kinase associated neurodegeneration. Note bilateral eye of the tiger sign in globus pallidus. (B) FSE from 9-year-old girl with infantile neuroaxonal dystrophy. Note bilateral hypointensity of globus pallidus. (C) FSE from a 60-year-old woman with neuroferritinopathy. Note hyperintensity of caudates with confluent hyperintensity of globus pallidus and putamen. (D) FSE from a 55-year-old woman with aceruloplasminemia. Note hypointensity of globus pallidus, putamen, caudates, and thalami.
None
Figure 4 Neuroimaging features distinguishing subtypes of neurodegeneration with brain iron accumulation
See this image and copyright information in PMC

References

    1. Gelman N, Gorell JM, Barker PB, et al. MR imaging of human brain at 3.0 T: preliminary report on transverse relaxation rates and relation to estimated iron content. Radiology 1999;210:759–767. - PubMed
    1. Gerlach M, Double KL, Youdim MB, Riederer P. Potential sources of increased iron in the substantia nigra of parkinsonian patients. J Neural Transm Suppl 2006;70:133–142. - PubMed
    1. House MJ, St Pierre TG, Kowdley KV, et al. Correlation of proton transverse relaxation rates (R2) with iron concentrations in postmortem brain tissue from Alzheimer’s disease patients. Magn Reson Med 2007;57:172–180. - PubMed
    1. Hayflick SJ. Neurodegeneration with brain iron accumulation: from genes to pathogenesis. Semin Pediatr Neurol 2006;13:182–185. - PubMed
    1. Hayflick SJ, Westaway SK, Levinson B, et al. Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome. N Engl J Med 2003;348:33–40. - PubMed

Publication types

MeSH terms