Skip to main content
Erschienen in: Journal of Inherited Metabolic Disease 2/2011

01.04.2011 | Images in Metabolic Medicine

Brain white matter abnormalities in paediatric Gaucher Type I and Type III using diffusion tensor imaging

verfasst von: Elin Haf Davies, Kiran K. Seunarine, Tina Banks, Chris A. Clark, Ashok Vellodi

Erschienen in: Journal of Inherited Metabolic Disease | Ausgabe 2/2011

Einloggen, um Zugang zu erhalten

Abstract

Objective

Biomarkers to monitor neurological dysfunction in Neuronopathic Gaucher disease (NGD) are lacking. Diffusion tensor imaging (DTI) is a technique which allows us to probe the microstructure of the white-matter of the brain, in-vivo. The aim of this study was to investigate the value of DTI to visualise and quantify white matter integrity in children with NGD and Type I Gaucher.

Design

DTI was performed and fractional anisotropy (FA), mean diffusivity (MD), axial (λaxial) diffusivity and radial (λradial) diffusivity maps calculated. Tract-based spatial statistics (TBSS) was used to perform a voxel-wise statistical analysis of the main white matter structures compared to age-sex matched control groups.

Setting

The study was performed at Great Ormond Street Children’s Hospital NHS Trust

Patients

Four NGD and three Type I Gaucher paediatric patients were recruited

Results

The findings suggest the presence of microstructural white matter changes in NGD patients primarily in the middle cerebellar peduncles compared to an age-sex matched control group. This finding is relevant to the clinical manifestation of ataxia seen in NGD. Diffuse non-specific changes were seen in the Type I patients, but without a focal point.

Conclusions

This study is the first to use DTI to examine the Gaucher brain. While the numbers studied are small, the results suggest that DTI may be an attractive surrogate marker of NGD, worthy of further exploration for use in clinical studies.
Literatur
Zurück zum Zitat LeBihan D, Mangin JF, Poupon C, Clark CA, Pappata S, Molko N et al (2001) Diffusion tensor imaging: concepts and applications. J Magn Reson Imaging 13(4):534–546CrossRef LeBihan D, Mangin JF, Poupon C, Clark CA, Pappata S, Molko N et al (2001) Diffusion tensor imaging: concepts and applications. J Magn Reson Imaging 13(4):534–546CrossRef
Zurück zum Zitat Pierpaoli C, Basser PJ (1997) Toward a quantitative assessment of diffusion anisotropy. Magn Reson Med 36(6):893–906CrossRef Pierpaoli C, Basser PJ (1997) Toward a quantitative assessment of diffusion anisotropy. Magn Reson Med 36(6):893–906CrossRef
Zurück zum Zitat Cascio CJ, Gerig G, Piven J (2007) Diffusion tensor imaging: application of the study of the developing brain. J Am Acad Child Adolesc Psychiatry 46(2):213–223PubMedCrossRef Cascio CJ, Gerig G, Piven J (2007) Diffusion tensor imaging: application of the study of the developing brain. J Am Acad Child Adolesc Psychiatry 46(2):213–223PubMedCrossRef
Zurück zum Zitat Smith SM, Jenkinson M, Johansen-Berg H, Rueckert D, Nicholas TE, Mackay CE et al (2006) Tract-based spatial statistics: voxelwise analysis of multi-subject diffusion data. Neuroimage 31(4):1487–1505PubMedCrossRef Smith SM, Jenkinson M, Johansen-Berg H, Rueckert D, Nicholas TE, Mackay CE et al (2006) Tract-based spatial statistics: voxelwise analysis of multi-subject diffusion data. Neuroimage 31(4):1487–1505PubMedCrossRef
Zurück zum Zitat Davies EH, Surtees R, DeVile C, Schoon I, Vellodi A (2007) A disease severity scoring tool to assess the neurological features of neuronopathic Gaucher disease. J Inherit Metab Dis 30(5):768–782PubMedCrossRef Davies EH, Surtees R, DeVile C, Schoon I, Vellodi A (2007) A disease severity scoring tool to assess the neurological features of neuronopathic Gaucher disease. J Inherit Metab Dis 30(5):768–782PubMedCrossRef
Zurück zum Zitat Wong K, Sidransky E, Verma A, Mixon T, Sandberg GD, Wakefield LK et al (2004) Mol Genet Metab 82(3):192–207PubMedCrossRef Wong K, Sidransky E, Verma A, Mixon T, Sandberg GD, Wakefield LK et al (2004) Mol Genet Metab 82(3):192–207PubMedCrossRef
Zurück zum Zitat Abdel-Razek AA, Abd El-Gaber N, Abdalla A, Fathy A, Azab A, Rahman AA (2009) Apparent diffusion coefficient value of the brain in patients with Gaucher’s disease type II and type III. Neuroradiology 51(11):773–779PubMedCrossRef Abdel-Razek AA, Abd El-Gaber N, Abdalla A, Fathy A, Azab A, Rahman AA (2009) Apparent diffusion coefficient value of the brain in patients with Gaucher’s disease type II and type III. Neuroradiology 51(11):773–779PubMedCrossRef
Zurück zum Zitat Fellgiebel A, Mazanek M, Whybra C, Beck M, Hartung R, Muller KM et al (2006) Pattern of microstructural brain tissue alterations in Fabry disease: a diffusion-tensor imaging study. J Neurol 253(6):780–787PubMedCrossRef Fellgiebel A, Mazanek M, Whybra C, Beck M, Hartung R, Muller KM et al (2006) Pattern of microstructural brain tissue alterations in Fabry disease: a diffusion-tensor imaging study. J Neurol 253(6):780–787PubMedCrossRef
Zurück zum Zitat Guo AC, Petreall JR, Krutzberg J, Provenzale JM (2001) Evaluation of white matter anisotropy in Krabbe disease with diffusion tensor MR imaging: initial experience. Radiology 218(3):809–815PubMed Guo AC, Petreall JR, Krutzberg J, Provenzale JM (2001) Evaluation of white matter anisotropy in Krabbe disease with diffusion tensor MR imaging: initial experience. Radiology 218(3):809–815PubMed
Zurück zum Zitat Bava S, Theilmann RJ, Sach M, May SJ, Frank LR, Hesselink JR et al (2010) Developmental changes in cerebral white matter microstructure in a disorder of lysosomal storage. Cortex 46(2):206–216PubMedCrossRef Bava S, Theilmann RJ, Sach M, May SJ, Frank LR, Hesselink JR et al (2010) Developmental changes in cerebral white matter microstructure in a disorder of lysosomal storage. Cortex 46(2):206–216PubMedCrossRef
Metadaten
Titel
Brain white matter abnormalities in paediatric Gaucher Type I and Type III using diffusion tensor imaging
verfasst von
Elin Haf Davies
Kiran K. Seunarine
Tina Banks
Chris A. Clark
Ashok Vellodi
Publikationsdatum
01.04.2011
Verlag
Springer Netherlands
Erschienen in
Journal of Inherited Metabolic Disease / Ausgabe 2/2011
Print ISSN: 0141-8955
Elektronische ISSN: 1573-2665
DOI
https://doi.org/10.1007/s10545-011-9288-6

Weitere Artikel der Ausgabe 2/2011

Journal of Inherited Metabolic Disease 2/2011 Zur Ausgabe

Leitlinien kompakt für die Innere Medizin

Mit medbee Pocketcards sicher entscheiden.

Seit 2022 gehört die medbee GmbH zum Springer Medizin Verlag

Update Innere Medizin

Bestellen Sie unseren Fach-Newsletter und bleiben Sie gut informiert.