New publication in Brain

24 November 2017 by Henriette Blæsild Vuust

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.