{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T10:16:27Z","timestamp":1791368187992,"version":"4.3.1"},"reference-count":49,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2010,7,29]],"date-time":"2010-07-29T00:00:00Z","timestamp":1280361600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2010,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Cerebral folate deficiency (CFD) is defined as any neurological syndrome associated with a low cerebrospinal fluid (CSF) concentration of 5\u2010methyltetrahydrofolate (5MTHF) in the presence of normal peripheral folate status. CFD has a wide clinical presentation, with reported signs and symptoms generally beginning at around 4 months of age with irritability and sleep disturbances. These can be followed by psychomotor retardation, dyskinesia, cerebellar ataxia and spastic diplegia. Other signs may include deceleration of head growth, visual disturbances and sensorineural hearing loss. Identification of CFD is achieved by determining 5MTHF concentration in CSF. Once identified, CFD can in many cases be treated by administering oral folinic acid. Supplementation with folic acid is contraindicated and, if used, may exacerbate the CSF 5MTHF deficiency. Generation of autoantibodies against the folate receptor required to transport 5MTHF into CSF and mutations in the folate receptor 1 (<jats:italic>FOLR1<\/jats:italic>) gene have been reported to be causes of CFD. However, other mechanisms are probably also involved, as CFD has been reported in Aicardi\u2010Goutiere's and Rett syndromes and in mitochondriopathies. Several metabolic conditions and a number of widely used drugs can also lead to a decrease in the concentration of CSF 5MTHF, and these should be considered in the differential diagnosis if a low concentration of 5MTHF is found following CSF analysis.<\/jats:p>","DOI":"10.1007\/s10545-010-9159-6","type":"journal-article","created":{"date-parts":[[2010,7,28]],"date-time":"2010-07-28T12:00:27Z","timestamp":1280318427000},"page":"563-570","source":"Crossref","is-referenced-by-count":96,"title":["Cerebral folate deficiency"],"prefix":"10.1002","volume":"33","author":[{"given":"Keith","family":"Hyland","sequence":"first","affiliation":[{"name":"Medical Neurogenetics 1 Dunwoody Park, Suite 250 Atlanta GA 30338 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Shoffner","sequence":"additional","affiliation":[{"name":"Medical Neurogenetics 1 Dunwoody Park, Suite 250 Atlanta GA 30338 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simon J.","family":"Heales","sequence":"additional","affiliation":[{"name":"Neurometabolic Unit, National Hospital, Department of Chemical Pathology, Great Ormond Street Hospital and Clinical and Molecular Genetics Unit Institute of Child Health (UCL) London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2010,7,29]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410130620"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.3121\/cmr.4.3.236"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000082726.08631.E7"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1005698223186"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3181c679df"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.49.8.920"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2007-973447"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2007.09.001"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000309223.98616.e4"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1515\/CCLM.2003.226"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2004.12.001"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2009.08.005"},{"key":"e_1_2_9_14_1","first-page":"17","volume-title":"Nitrite oxidation of tetrahydropterins. In: Biochemical and clinical aspects of pteridines","author":"Heales SJR","year":"1985"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/cbf.290060307"},{"key":"e_1_2_9_16_1","doi-asserted-by":"crossref","unstructured":"HoA MichelsonD AaenG AshwalS(2010)Cerebral folate deficiency presenting as adolescent catatonic schizophrenia:a case report. J Child Neurol[Epub ahead of print]","DOI":"10.1177\/0883073809343475"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1515\/pteridines.1991.3.12.149"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1471-4159.2005.03374.x"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00965847"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM197510162931601"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1177\/0883073807307986"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbagrm.2007.10.005"},{"key":"e_1_2_9_23_1","first-page":"673","article-title":"Disorders of folate metabolism in the Kearns\u2010Sayre syndrome","volume":"139","author":"Macron JM","year":"1983","journal-title":"Rev Neurol (Paris)"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1620\/tjem.211.95"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2005-865715"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/1097-0142(197602)37:2<853::AID-CNCR2820370234>3.0.CO;2-Q"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10803-007-0492-z"},{"key":"e_1_2_9_28_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000166032.58239.6C"},{"key":"e_1_2_9_29_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2005-873078"},{"key":"e_1_2_9_30_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20746"},{"key":"e_1_2_9_31_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20746"},{"key":"e_1_2_9_32_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.2004.tb00451.x"},{"key":"e_1_2_9_33_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2002-37082"},{"key":"e_1_2_9_34_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000078939.64774.1B"},{"key":"e_1_2_9_35_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa043160"},{"key":"e_1_2_9_36_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2007-991148"},{"key":"e_1_2_9_37_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2007-991150"},{"key":"e_1_2_9_38_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.2008.02053.x"},{"key":"e_1_2_9_39_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01800658"},{"key":"e_1_2_9_40_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.08.005"},{"key":"e_1_2_9_41_1","doi-asserted-by":"publisher","DOI":"10.1007\/PL00014296"},{"key":"e_1_2_9_42_1","first-page":"96","volume-title":"Vitamin responsive conditions in paediatric neurology. International review of child neurology series","author":"Surtees R","year":"2001"},{"key":"e_1_2_9_43_1","doi-asserted-by":"publisher","DOI":"10.1016\/0885-4505(90)90060-E"},{"key":"e_1_2_9_44_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.53.7.569"},{"key":"e_1_2_9_45_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02907775"},{"key":"e_1_2_9_46_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2008.05.003"},{"key":"e_1_2_9_47_1","doi-asserted-by":"publisher","DOI":"10.1186\/ar395"},{"key":"e_1_2_9_48_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMp038186"},{"key":"e_1_2_9_49_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.57.2.223"},{"key":"e_1_2_9_50_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1018829920158"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-010-9159-6","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1007\/s10545-010-9159-6","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-010-9159-6","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T15:05:57Z","timestamp":1694790357000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-010-9159-6"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,7,29]]},"references-count":49,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2010,10]]}},"alternative-id":["10.1007\/s10545-010-9159-6"],"URL":"https:\/\/doi.org\/10.1007\/s10545-010-9159-6","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,7,29]]}}}