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

McNeill, Alisdair; Birchall, Daniel; Hayflick, Susan J.; Gregory, Allison; Schenk, J.; Zimmerman, Earl A.; Shang, HF; Miyajima, Hiroaki; Chinnery, Patrick F.

doi:10.1212/01.wnl.0000310985.40011.d6

Cited by 283 publications

(289 citation statements)

References 27 publications

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“…1, 2 and 3. The T2* hypointensity distribution was typical of neuroferritinopathy [13]. T1 abnormalities and T2* hyperintensities were not identified.…”

Section: Resultsmentioning

confidence: 85%

“…Neuroferritinopathy remains the only autosomal dominant NBIA syndrome [9], and this study shows that, whilst the condition presents clinically in mid-adult life, from a radiological perspective, it should now also be considered as an inborn error of metabolism and become accepted as an additional cause of iron deposition on MRI imaging in children [13].…”

Section: Discussionmentioning

confidence: 86%

“…Hypointensity on T2* imaging can be used as a surrogate for brain iron deposition in the appropriate clinical context [13], and our knowledge of NBIA has been rapidly expanding since the identification of the first genetic mutations associated with NBIA1, originally termed Hallervorden-Spatz syndrome, and neuroferritinopathy, or NBIA2, both in 2001 [1,14]. Neuroferritinopathy remains the only autosomal dominant NBIA syndrome [9], and this study shows that, whilst the condition presents clinically in mid-adult life, from a radiological perspective, it should now also be considered as an inborn error of metabolism and become accepted as an additional cause of iron deposition on MRI imaging in children [13].…”

Section: Discussionmentioning

confidence: 99%

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Neuroferritinopathy: a new inborn error of iron metabolism

Keogh

Jonas

Coulthard³

et al. 2012

Neurogenetics

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Neuroferritinopathy is an autosomal dominant progressive movement disorder which occurs due to mutations in the ferritin light chain gene (FTL1). It presents in mid-adult life and is the only autosomal dominant disease in a group of conditions termed neurodegeneration with brain iron accumulation (NBIA). We performed brain MRI scans on 12 asymptomatic descendants of known mutation carriers. All three harbouring the pathogenic c.460InsA mutation showed iron deposition; these findings show pathological iron accumulation begins in early childhood which is of major importance in understanding and developing treatment for NBIA.

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“…1, 2 and 3. The T2* hypointensity distribution was typical of neuroferritinopathy [13]. T1 abnormalities and T2* hyperintensities were not identified.…”

Section: Resultsmentioning

confidence: 85%

Section: Discussionmentioning

confidence: 86%

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Neuroferritinopathy: a new inborn error of iron metabolism

Keogh

Jonas

Coulthard³

et al. 2012

Neurogenetics

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“…Correspondingly, these regions shows hypointensity on T2*WI [10]. To a lesser degree, iron accumulates in the cerebral cortex; however, it is rarely detected on the surface of the cerebral or cerebellar cortex.…”

Section: Introductionmentioning

confidence: 98%

Superficial siderosis associated with aceruloplasminemia. Case report

Matsushima

Yoshida²,

Yoshida

et al. 2014

Journal of the Neurological Sciences

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“…Magnetic resonance imaging (MRI) is a noninvasive technique with the potential to provide qualitative and quantitative assessment of iron distribution and concentration in vivo (3,5,7,10). The standard MRI studies of PKAN patients have usually demonstrated bilateral central areas of hyperintensity within a region of surrounding hypointensity in the medial globus pallidus (GP) on T2-weighted (T2w) and T2*-weighted (T2*w) images, a pattern known as the ''eye-of-thetiger'' (EoT) sign (9,11).…”

mentioning

confidence: 99%

Measurement of brain iron distribution in Hallevorden‐Spatz syndrome

Szumowski

Bas

Gaarder

et al. 2010

Magnetic Resonance Imaging

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Purpose: To investigate spatial distribution of iron accumulation in the globus pallidus (GP) in patients with Hallevorden-Spatz syndrome (HSS) using phase imaging. We compared sensitivity of a phase imaging technique to relaxation rate measurement methods (R1,R2,R2*) for iron quantification.Materials and Methods: R1, R2, and R2* were measured in GP structure of the brain of eight pantothenate kinaseassociated neurodegeneration (PKAN) patients and a healthy volunteer using a 3T magnetic resonance imaging (MRI) scanner. The phase of gradient-echo images was preprocessed to eliminate phase 2p wrapping and filtered to remove phase background variations. Phase gap across GP structure was used as a metric for iron effects quantification.Results: Among the relaxation rates the most sensitive to iron accumulation was the R2* rate. The R1 and R2 rates demonstrated only small variations in this group of subjects. Up to an order of magnitude phase gap changes were measured between one PKAN patient and an agematched healthy volunteer. Assuming that phase gap differences scale linearly with iron concentration we estimate that up to 2 mg Fe/g ww accumulates in GP of these patients.Conclusion: Our results demonstrate significantly higher sensitivity of the phase measurements for quantitative assessment of iron concentration compared to the relaxation rate measurements. Phase measurements could potentially be used for monitoring a progression and a response to therapy in PKAN.

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

Abstract: 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.

Cited by 283 publications

References 27 publications

Neuroferritinopathy: a new inborn error of iron metabolism

Neuroferritinopathy: a new inborn error of iron metabolism

Superficial siderosis associated with aceruloplasminemia. Case report

Measurement of brain iron distribution in Hallevorden‐Spatz syndrome

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