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A post-mortem investigation of post-mortem brain tissues from 12 patients with POLG-related mitochondrial epilepsy provides strong neuropathological evidence implicating neuroinflammation and glial dysfunction in POLG-related epilepsy.
The value of large, well-characterized patient cohorts in identifying modifier loci and advancing knowledge of the mechanisms underlying phenotypic variability in mtDNA disease is highlighted, as each showed the strongest gene-level signals within the linkage region across complementary burden-testing methods.
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 b...
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