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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Cerebral folate deficiency and leukoencephalopathy caused by a mitochondrial DNA deletion.

OBJECTIVE: Our aim was to describe a child with an incomplete form of Kearns-Sayre syndrome who presented profound cerebrospinal fluid (CSF) folate deficiency and his response to folinic acid supplementation METHODS: CSF 5-methyltetrahydrofolate was analyzed by HPLC with fluorescence detection and mitochondrial DNA deletions by southern blot hybridization. RESULTS: Cranial magnetic resonance imaging showed a leukoencephalopathy. Profound CSF 5-methyltetrahydrofolate deficiency was observed with normal blood folate values and decreased CSF/serum folate ratio, suggesting a transport defect across the blood-brain barrier. Folinic acid treatment was established, and after 1 year clinical response to folinic supplementation was remarkable, with almost normal white matter image. INTERPRETATION: The clinical response after folinic therapy highlights the need for the study of cerebral folate deficiency in patients with mitochondrial disorders and white matter lesions.[1]


  1. Cerebral folate deficiency and leukoencephalopathy caused by a mitochondrial DNA deletion. Pineda, M., Ormazabal, A., López-Gallardo, E., Nascimento, A., Solano, A., Herrero, M.D., Vilaseca, M.A., Briones, P., Ibáñez, L., Montoya, J., Artuch, R. Ann. Neurol. (2006) [Pubmed]
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