TY - JOUR
T1 - Affected astrocytes in the spinal cord of the leukodystrophy vanishing white matter
AU - Leferink, Prisca S
AU - Breeuwsma, Nicole
AU - Bugiani, Marianna
AU - van der Knaap, Marjo S
AU - Heine, Vivi M
PY - 2018/4/1
Y1 - 2018/4/1
N2 - Leukodystrophies are often devastating diseases, presented with progressive clinical signs as spasticity, ataxia and cognitive decline, and lack proper treatment options. New therapy strategies for leukodystrophies mostly focus on oligodendrocyte replacement to rescue lack of myelin in the brain, even though disease pathology also often involves other glial cells and the spinal cord. In this study we investigated spinal cord pathology in a mouse model for Vanishing White Matter disease (VWM) and show that astrocytes in the white matter are severely affected. Astrocyte pathology starts postnatally in the sensory tracts, followed by changes in the astrocytic populations in the motor tracts. Studies in post-mortem tissue of two VWM patients, a 13-year-old boy and a 6-year-old girl, confirmed astrocyte abnormalities in the spinal cord. For proper development of new treatment options for VWM and, possibly, other leukodystrophies, future studies should investigate spinal cord involvement.
AB - Leukodystrophies are often devastating diseases, presented with progressive clinical signs as spasticity, ataxia and cognitive decline, and lack proper treatment options. New therapy strategies for leukodystrophies mostly focus on oligodendrocyte replacement to rescue lack of myelin in the brain, even though disease pathology also often involves other glial cells and the spinal cord. In this study we investigated spinal cord pathology in a mouse model for Vanishing White Matter disease (VWM) and show that astrocytes in the white matter are severely affected. Astrocyte pathology starts postnatally in the sensory tracts, followed by changes in the astrocytic populations in the motor tracts. Studies in post-mortem tissue of two VWM patients, a 13-year-old boy and a 6-year-old girl, confirmed astrocyte abnormalities in the spinal cord. For proper development of new treatment options for VWM and, possibly, other leukodystrophies, future studies should investigate spinal cord involvement.
KW - Journal Article
KW - astrocytes
KW - leukoencephalopathy
KW - neuroglia
KW - neuropathology
KW - spinal cord
KW - vanishing white matter disease
UR - http://www.scopus.com/inward/record.url?scp=85039168876&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85039168876&partnerID=8YFLogxK
U2 - https://doi.org/10.1002/glia.23289
DO - https://doi.org/10.1002/glia.23289
M3 - Article
C2 - 29285798
SN - 0894-1491
VL - 66
SP - 862
EP - 873
JO - GLIA
JF - GLIA
IS - 4
ER -