Repair of the Blood Brain Barrier with Neutrophil Recovery Following HSCT for Cerebral Adrenoleukodystrophy

Cerebral leukodystrophy is an X-linked peroxisomal disease characterized by mutations in the ABCD1 gene, resulting in the lack of very long chain fatty acid (VLCFA) transport into peroxisomes. Resultant VLCFA build up in the blood and tissues leads to adrenal gland insufficiency in 95% of boys and an inflammatory cerebral demyelinating process in 40% of patients, which is progressive and most often fatal (cALD). A key clinical feature of cALD is disruption of the blood brain barrier (BBB) illustrated by gadolinium (gad) contrast enhancement on brain MRI at diagnosis and as an indicator of “active” cerebral disease.
Source: Biology of Blood and Marrow Transplantation - Category: Hematology Authors: Tags: 117 Source Type: research