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Updated: Jul 18, 2026

An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy
Published on: October 21, 2014
Immunopathogenesis of adrenoleukodystrophy: current understanding
Michelle P Hudspeth1, Gerald V Raymond
1Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins, Bunting Blaustein Cancer Research Building, Rm 255 1650 Orleans Street Baltimore, MD 21231, United States. mhudspe1@jhmi.edu
Abstract:
Adrenoleukodystrophy is a neurometabolic disease with a decreased ability to degrade very long chain fatty acids (VLCFA) and significant phenotypic variation. Unlike most neurometabolic diseases, the success of hematopoietic stem cell transplantation (HSCT) is based on acquiring a new immune system rather than enzyme replacement. VLCFA accumulation appears necessary but not sufficient for pathogenesis. Evidence for the involvement of different components of the immune system in the pathogenesis of the cerebral lesions (cellular, cytokines, humoral, and complement) is reviewed, along with both HSCT and non-HSCT immunologic approaches to treatment and future directions.
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