Mercedes Serrano, María Teresa García-Silva, Elena Martin-Hernandez, Maria del Mar O'Callaghan, Pilar Quijada, Ana Martinez-Aragón, Aida Ormazábal, Alberto Blázquez, Miguel A Martín, Paz Briones, Ester López-Gallardo, Eduardo Ruiz-Pesini, Julio Montoya, Rafael Artuch, Mercedes Pineda
We evaluated cerebrospinal fluid (CSF) 5-methyltetrahydrofolate (5-MTHF), biogenic amines, and white matter status in six Kearns-Sayre syndrome (KSS) patients. They presented severe 5-MTHF deficiency. A significant negative correlation was observed between CSF 5-MTHF and protein concentration. CSF homovanillic acid was clearly high. Regarding neuroimaging, the main feature was hyperintensity in the basal ganglia, brainstem, and cerebral/cerebellar white matter. The severity of hemispheric white matter disturbances appeared to be qualitatively associated with 5-MTHF values...
August 2010: Mitochondrion