title: Biochemical parameters to assess choroid plexus dysfunction in Kearns-Sayre syndrome patients.
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.
authors: Neuropediatric Department, Hospital Sant Joan de Déu, Barcelona, Spain.
authors: Mireia
authors: M
authors: Tondo
authors: Ignácio
authors: I
authors: Málaga
authors: Mar
authors: M
authors: O'Callaghan
authors: Mercedes
authors: M
authors: Serrano
authors: Sonia
authors: S
authors: Emperador
authors: Aida
authors: A
authors: Ormazabal
authors: Eduardo
authors: E
authors: Ruiz-Pesini
authors: Julio
authors: J
authors: Montoya
authors: Maria T
authors: MT
authors: Garcia-Silva
authors: Elena
authors: E
authors: Martin-Hernandez
authors: Angels
authors: A
authors: Garcia-Cazorla
authors: Merce
authors: M
authors: Pineda
authors: Rafael
authors: R
authors: Artuch
mesh_terms: D000293:Adolescent; D002555:Cerebrospinal Fluid / Q000737:chemistry; D002648:Child; D002675:Child, Preschool; D002831:Choroid Plexus / Q000503:physiopathology*; D005260:Female; D006719:Homovanillic Acid / Q000032:analysis; D006801:Humans; D007223:Infant; D007625:Kearns-Sayre Syndrome / Q000503:physiopathology*; D008297:Male; D011506:Proteins / Q000032:analysis; D012643:Selenium / Q000032:analysis; D013763:Tetrahydrofolates / Q000032:analysis; D055815:Young Adult
chemical_list: D011506:Proteins; D013763:Tetrahydrofolates; D012643:Selenium; C005984:5-methyltetrahydrofolate; D006719:Homovanillic Acid