Automated segmentation reveals silent radiographic progression in adult-onset vanishing white-matter disease

Abstract

Adult-onset vanishing white-matter disease (VWM) is a rare autosomal recessive disease with neurological symptoms such as ataxia and paraparesis, showing extensive white-matter hyperintensities (WMH) on magnetic resonance (MR) imaging. Besides symptom-specific scores like the International Cooperative Ataxia Rating Scale (ICARS), there is no established tool to monitor disease progression. Because of extensive WMH, visual comparison of MR images is challenging. Here, we report the results of an automated method of segmentation to detect alterations in T2-weighted fluid-attenuated-inversion-recovery (FLAIR) sequences in a one-year follow-up study of a clinically stable patient with genetically diagnosed VWM. Signal alterations in MR imaging were quantified with a recently published WMH segmentation method by means of extreme value distribution (EVD). Our analysis revealed progressive FLAIR alterations of 5.84% in the course of one year, whereas no significant WMH change could be detected in a stable multiple sclerosis (MS) control group. This result demonstrates that automated EVD-based segmentation allows a precise and rapid quantification of extensive FLAIR alterations like in VWM and might be a powerful tool for the clinical and scientific monitoring of degenerative white-matter diseases and potential therapeutic interventions.

Keywords

Extreme value distribution automated segmentation vanishing white-matter disease white-matter hyperintensities

Get full access to this article

View all access options for this article.

References

van der Knaap

Barth

Gabreëls

. A new leukoencephalopathy with vanishing white matter. Neurology 1997; 48: 845–855.

van der Knaap

Pronk

Scheper

. Vanishing white matter disease. Lancet Neurol 2006; 5: 413–423.

Ghezzi

Scarpini

Rango

. A 66-year-old patient with vanishing white matter disease due to the p.Ala87Val EIF2B3 mutation. Neurology 2012; 79: 2077–2078.

Herwerth

Schwaiger

Kreiser

. Adult-onset vanishing white matter disease as differential diagnosis of primary progressive multiple sclerosis: A case report. Mult Scler 2015; 21: 666–668.

Labauge

Horzinski

Ayrignac

. Natural history of adult-onset eIF2B-related disorders: A multi-centric survey of 16 cases. Brain 2009; 132: 2161–2169.

Ayrignac

Menjot de Champfleur

. Brain magnetic resonance imaging helps to differentiate atypical multiple sclerosis with cavitary lesions and vanishing white matter disease. Eur J Neurol 2016; 23: 995–1000.

van der Knaap

Leegwater

van Berkel

. Arg113His mutation in eIF2Bepsilon as cause of leukoencephalopathy in adults. Neurology 2004; 62: 1598–1600.

Trouillas

Takayanagi

Hallett

. International Cooperative Ataxia Rating Scale for pharmacological assessment of the cerebellar syndrome. The Ataxia Neuropharmacology Committee of the World Federation of Neurology. J Neurol Sci 1997; 145: 205–211.

Yoo

Ackerman

Lorensen

. Engineering and algorithm design for an image processing Api: A technical report on ITK—the Insight Toolkit. Stud Health Technol Inform 2002; 85: 586–592.

10.

Tustison N and Gee J. N4ITK: Nick’s N3 ITK implementation for MRI bias field correction. Insight J 2009, http://hdl.handle.net/10380/3053 (accessed 29 June 2015).

11.

Bauer S, Fejes T and Reyes M. A skull-stripping filter for ITK. Insight J 2012, http://hdl.handle.net/10380/3353 (accessed 29 June 2015).

12.

Beare R. Histogram-based thresholding—some missing methods. Insight J 2011, http://hdl.handle.net/10380/3279 (accessed 29 June 2015).

13.

Wang

. Automatic segmentation and volumetric quantification of white matter hyperintensities on fluid-attenuated inversion recovery images using the extreme value distribution. Neuroradiology 2015; 57: 307–320.

14.

Glüer

Blake

. Accurate assessment of precision errors: How to measure the reproducibility of bone densitometry techniques. Osteoporos Int 1995; 5: 262–270.

15.

Shepherd

. A generalized least significant change for individuals measured on different DXA systems. J Clin Densitom 2007; 10: 249–258.

16.

Ding

Bley

Ohlenbusch

. Imaging evidence of early brain tissue degeneration in patients with vanishing white matter disease: A multimodal MR study. J Magn Reson Imaging 2012; 35: 926–932.

17.

Wong

Armstrong

Gyure

. Foamy cells with oligodendroglial phenotype in childhood ataxia with diffuse central nervous system hypomyelination syndrome. Acta Neuropathol 2000; 100: 635–646.

18.

Van Haren

van der Voorn

Peterson

. The life and death of oligodendrocytes in vanishing white matter disease. J Neuropathol Exp Neurol 2004; 63: 618–630.