Researchers at University of Siena Target Neurology (folr1 Gene Variation With Adult-onset Cerebral Folate Deficiency and Stable Clinical and Mri Features Up To 2 Years).

Researchers at the University of Siena in Italy conducted a study on a 47-year-old man with a history of drug and alcohol abuse who presented with double vision and postural instability. The patient was found to have a compound heterozygous FOLR1 gene variation associated with adult-onset paucisymptomatic leukoencephalopathy and cerebral folate deficiency. Despite stable clinical and MRI features over a two-year period, the study highlights the importance of considering cerebral folate deficiency in adult patients with stable diffuse MRI white matter changes. [Extracted from the article]