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Objective
X‐linked adrenoleukodystrophy is caused by mutations in the peroxisomal half‐transporter ABCD1. The most common manifestation is adrenomyeloneuropathy, a hereditary spastic paraplegia of adulthood. The present study set out to understand the role of neuronal ABCD1 in mice and humans with adrenomyeloneuropathy.
Methods
Neuronal expression of ABCD1 during development was assessed in mice...
Objective
Mutations in ABCD1 cause the neurodegenerative disease, adrenoleukodystrophy, which manifests as the spinal cord axonopathy adrenomyeloneuropathy (AMN) in nearly all males surviving into adulthood. Microglial dysfunction has long been implicated in pathogenesis of brain disease, but its role in the spinal cord is unclear.
Methods
We assessed spinal cord microglia in humans and mice with...
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