{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,3]],"date-time":"2026-11-03T23:28:27Z","timestamp":1793748507567,"version":"4.6.1"},"reference-count":16,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2022,12,18]],"date-time":"2022-12-18T00:00:00Z","timestamp":1671321600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2023,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:italic>FIG4<\/jats:italic> related leukoencephalopathy has recently been considered as an expanded spectrum of <jats:italic>FIG4<\/jats:italic> related disorders characterized by upper and lower motor neuron involvement, dystonia, intellectual disability, bulbar symptoms with cerebellar atrophy. We report a 7\u2010year\u2010old girl who presented with classic clinical features of <jats:italic>FIG4<\/jats:italic> related leukoencephalopathy and neuroimaging showed characteristic T2 olivary nuclei hyperintensities in addition to bilateral parietal lobe and thalamic hyperintensities and mild cerebellar atrophy. Trio exome sequencing with Sanger confirmation revealed a novel variant c.504C&gt;G in the <jats:italic>FIG4<\/jats:italic> gene. Phase contrast microscopy of skin fibroblast cultures detect enlarged vacuoles in 50% of patient's fibroblasts as opposed to 18.6% vacuolation in cultured control fibroblasts (<jats:italic>p<\/jats:italic>\u2009&lt;\u20090.00001), a feature characteristic of fibroblasts with deleterious variants of <jats:italic>FIG4<\/jats:italic>. In addition, we have reviewed and compared the phenotypic features of published cases of <jats:italic>FIG4<\/jats:italic> related leukoencephalopathy from literature. This case adds to the delineation of <jats:italic>FIG4<\/jats:italic> related leukoencephalopathy phenotype. The radiological finding of T2 inferior olivary nuclei hyperintensities appear to be characteristic for the phenotype or at least for the cases due to variants in and around the 168th codon and active effort should be made to detect the same as it can add to the genotype phenotype spectrum.<\/jats:p>","DOI":"10.1002\/ajmg.a.63084","type":"journal-article","created":{"date-parts":[[2022,12,19]],"date-time":"2022-12-19T02:59:50Z","timestamp":1671418790000},"page":"864-869","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["<scp>T2<\/scp> olivary nuclei hyperintensities: A characteristic neuroimaging finding in <scp><i>FIG4<\/i><\/scp>\u2010related leukoencephalopathy"],"prefix":"10.1002","volume":"191","author":[{"given":"Haseena","family":"Sait","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Sanjay Gandhi Postgraduate Institute of Medical Sciences  Lucknow 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