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A new study by the Neuroinformatics group at CFIN performed in collaboration with Harvard Medical School and Massachusetts General Hospital enables earlier detection of cerebral Adrenoleukodystrophy.
24.11.2017 |
Adrenoleukodystrophy, also known as ALD or Lorenzo’s oil disease, is a devastating neurodegenerative disorder linked to mutation in the ABCD1 gene located at the X-chromosome. About 60% of the affected males (with only one X-chromosome) enter the so-called progressive cerebral form, resulting in vegetative state and death within a few years. Treatment is currently only possible via haematopoetic stem-cell transplantation and is allowed by the American authorities, due to the severity of the disease.
In the Brain paper, we were able to show that the heterogeneity of capillary transit times (CTH) obtained from perfusion MRI data: (i) predicted lesion progression into otherwise healthy appearing tissue, (ii) normalized in subjects with good response to treatment, and (iii) confirmed the in vitro discovered microvascular changes due to ABCD1 deficiency.
Finally, it was demonstrated that the microvascular CTH image biomarker could detect onset of the progressive form of ALD more than six months earlier than conventional techniques. This might have wide implications for this patient group, since early initiation of treatment is crucial in order to arrest the disease.
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DOI: 10.1093/brain/awx262
Fore more information, contact:
Kim Mouridsen
Associate Professor
Email: kim@cfin.au.dk
Phone: +45 7846 4404
Mikkel Bo Hansen
Software Engineer
Email: mbhansen@cfin.au.dk
Phone: +45 7846 4403