TY - JOUR
T1 - The pathology of X-linked adrenoleukodystrophy
T2 - tissue specific changes as a clue to pathophysiology
AU - Yska, Hemmo A. F.
AU - Engelen, Marc
AU - Bugiani, Marianna
N1 - Publisher Copyright: © The Author(s) 2024.
PY - 2024/12/1
Y1 - 2024/12/1
N2 - Although the pathology of X-linked adrenoleukodystrophy (ALD) is well described, it represents the end-stage of neurodegeneration. It is still unclear what cell types are initially involved and what their role is in the disease process. Revisiting the seminal post-mortem studies from the 1970s can generate new hypotheses on pathophysiology. This review describes (histo)pathological changes of the brain and spinal cord in ALD. It aims at integrating older works with current insights and at providing an overarching theory on the pathophysiology of ALD. The data point to an important role for axons and glia in the pathology of both the myelopathy and leukodystrophy of ALD. In-depth pathological analyses with new techniques could help further unravel the sequence of events behind the pathology of ALD.
AB - Although the pathology of X-linked adrenoleukodystrophy (ALD) is well described, it represents the end-stage of neurodegeneration. It is still unclear what cell types are initially involved and what their role is in the disease process. Revisiting the seminal post-mortem studies from the 1970s can generate new hypotheses on pathophysiology. This review describes (histo)pathological changes of the brain and spinal cord in ALD. It aims at integrating older works with current insights and at providing an overarching theory on the pathophysiology of ALD. The data point to an important role for axons and glia in the pathology of both the myelopathy and leukodystrophy of ALD. In-depth pathological analyses with new techniques could help further unravel the sequence of events behind the pathology of ALD.
KW - ABCD1
KW - Adrenoleukodystrophy
KW - Adrenomyeloneuropathy
KW - Cerebral ALD
KW - Immunohistochemistry
KW - Pathology
UR - http://www.scopus.com/inward/record.url?scp=85188807604&partnerID=8YFLogxK
UR - https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85188807604&origin=inward
UR - https://www.ncbi.nlm.nih.gov/pubmed/38549180
U2 - 10.1186/s13023-024-03105-0
DO - 10.1186/s13023-024-03105-0
M3 - Review article
C2 - 38549180
SN - 1750-1172
VL - 19
JO - Orphanet Journal of Rare Diseases
JF - Orphanet Journal of Rare Diseases
IS - 1
M1 - 138
ER -