Diffusion tensor imaging and brain volumetry in Fabry disease patients

Teemu Paavilainen*, Virva Lepomaki, Jani Saunavaara, Ronald Borra, Pirjo Nuutila, Ilkka Kantola, Riitta Parkkola

*Corresponding author voor dit werk

    OnderzoeksoutputAcademicpeer review

    26 Citaten (Scopus)

    Samenvatting

    Fabry disease is a rare lysosomal storage disorder leading to cellular accumulation of globotriaosylceramide, especially in blood vessels. It is associated with severe early onset cerebrovascular disease and kidney and heart failure. The purpose of this study was to reveal possible disturbances in white matter integrity in Fabry disease patients using voxelwise diffusion-tensor imaging (DTI) analysis.

    Twelve Fabry disease patients, along with 13 healthy controls, underwent DTI and structural MRI. Voxel-based analysis of the DTI data was performed to assess possible differences in DTI parameters between Fabry disease patients and healthy controls. A selective region of interest analysis was performed for healthy volunteers and Fabry disease patients having a mild burden of T2-hyperintense lesions. We also measured normalised brain tissue volumes and performed a voxel-based volume analysis for grey matter.

    Voxel-based analysis of DTI data showed areas of significantly reduced fractional anisotropy and increased mean diffusivity in patients with Fabry disease. Eight patients had a mild burden of white matter lesions on their T2 scans. Region of interest analysis on areas showing reduced fractional anisotropy in voxelwise analysis also revealed reduced fractional anisotropy values in this patient group compared to eight healthy volunteers. The brain volume analyses did not reveal significant differences between the Fabry disease patients and the controls.

    These findings suggest a microstructural damage in brain white matter of Fabry disease patients, which can be revealed before excessive white matter lesions load is visible on conventional MR scans.

    Originele taal-2English
    Pagina's (van-tot)551-558
    Aantal pagina's8
    TijdschriftNeuroradiology
    Volume55
    Nummer van het tijdschrift5
    DOI's
    StatusPublished - mei-2013

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