Skogholt’s disease: multimodal evidence for choroid plexus–centred clearance failure
In vivo evidence is provided for choroid plexus dysfunction in a maternally inherited disorder with convergent evidence supporting a mitochondrial aetiology, associated with reduced CSF production and impaired blood–CSF barrier transport, substantially altering biomarker profiles in the absence of cortical atrophy or blood–brain barrier disruption.
P. Selnes, J. Jarholm, Antón Vila-Sanjurjo et al.
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