RT Journal Article
SR Electronic
T1 Cerebral folate deficiency with developmental delay, autism, and response to folinic acid
JF Neurology
JO Neurology
FD Lippincott Williams & Wilkins
SP 1088
OP 1090
DO 10.1212/01.WNL.0000154641.08211.B7
VO 64
IS 6
A1 Moretti, P.
A1 Sahoo, T.
A1 Hyland, K.
A1 Bottiglieri, T.
A1 Peters, S.
A1 del Gaudio, D.
A1 Roa, B.
A1 Curry, S.
A1 Zhu, H.
A1 Finnell, R. H.
A1 Neul, J. L.
A1 Ramaekers, V. T.
A1 Blau, N.
A1 Bacino, C. A.
A1 Miller, G.
A1 Scaglia, F.
YR 2005
UL http://n.neurology.org/content/64/6/1088.abstract
AB The authors describe a 6-year-old girl with developmental delay, psychomotor regression, seizures, mental retardation, and autistic features associated with low CSF levels of 5-methyltetrahydrofolate, the biologically active form of folates in CSF and blood. Folate and B12 levels were normal in peripheral tissues, suggesting cerebral folate deficiency. Treatment with folinic acid corrected CSF abnormalities and improved motor skills.