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Article

Progressive ataxia and myoclonic epilepsy in a patient with a homozygous mutation in the <i>FOLR1</i> gene

20 Sept 2010

Abstract excerpt

Several unrelated disorders can lead to 5-methyltetrahydrofolate (5MTHF) depletion in the cerobrospinal fluid (CSF), including primary genetic disorders in folate-related pathways or those causing defective transport across the blood-CSF barrier. We report a case of cerebral folate transport deficiency due to a novel homozygous mutation in the FOLR1 gene, in an effort to clarify phenotype-genotype correlation in...

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PMID: 20857335
DOI: 10.1007/s10545-010-9196-1

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