Abstract
Our aim was to assess biochemical parameters to detect choroid plexus dysfunction in Kearns–Sayre syndrome (KSS) patients. We studied CSF from 7 patients with KSS including total proteins, 5-methyltetrahydrofolate, homovanillic acid (HVA) and Selenium (Se) concentrations. High Se values, increased HVA and total protein concentrations and decreased 5-MTHF values were observed in all cases. This pattern seems very specific to KSS since it was only detected in 7 patients out of 1850 CSF samples analysed, and may represent a good biochemical model for evaluating choroid plexus dysfunction. The accumulated Se in CSF might have deleterious consequences such as toxicity effects.
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