{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,15]],"date-time":"2026-07-15T05:25:43Z","timestamp":1784093143844,"version":"3.55.0"},"reference-count":41,"publisher":"Cambridge University Press (CUP)","license":[{"start":{"date-parts":[[2024,10,25]],"date-time":"2024-10-25T00:00:00Z","timestamp":1729814400000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/www.cambridge.org\/core\/terms"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Can. J. Neurol. Sci."],"abstract":"<jats:title>ABSTRACT:<\/jats:title>\n\t  <jats:sec id=\"S0317167124003081_as1\">\n\t    <jats:title>Background:<\/jats:title>\n\t    <jats:p>Vanishing white matter syndrome is one of the leukoencephalopathies caused by recessive mutations in gene <jats:italic>EIF2B1\u20135<\/jats:italic>. Adult-onset EIF2B-pathies (clinical onset after age 16 years) have been reported to be less common.<\/jats:p>\n\t  <\/jats:sec>\n\t  <jats:sec id=\"S0317167124003081_as2\">\n\t    <jats:title>Objective:<\/jats:title>\n\t    <jats:p>Description of the clinical, imaging and genetic profile of adult-onset EIF2B-pathies and comparison of Indian cohort with Asian and European cohorts.<\/jats:p>\n\t  <\/jats:sec>\n\t  <jats:sec id=\"S0317167124003081_as3\">\n\t    <jats:title>Methods:<\/jats:title>\n\t    <jats:p>Report of two cases of adult-onset EIF2B-pathies and a comprehensive review of genetically confirmed adult-onset EIF2B-pathies since 2001 from Indian, Asian and European cohorts.<\/jats:p>\n\t  <\/jats:sec>\n\t  <jats:sec id=\"S0317167124003081_as4\">\n\t    <jats:title>Results:<\/jats:title>\n\t    <jats:p>Two patients were females, with median age at presentation of 25.5 years (24\u201327 years) and onset at 19 years (18\u201320 years). The median duration of symptoms was 6.5 years (6\u20137 years). Both had cerebellar ataxia, spasticity, cognitive impairment and bladder involvement. Brain magnetic resonance imaging (MRI) showed leukoencephalopathy with rarefaction in both patients and corpus callosum involvement in one patient. Genetics showed homozygous missense variant in the <jats:italic>EIF2B3<\/jats:italic> gene in both patients. The Indian cohort of seven patients had similar clinical and radiological features and common variants in <jats:italic>EIF2B3<\/jats:italic> (<jats:italic>n<\/jats:italic> = 4). The Asian cohort had 24 cases, and the European cohort had 61 cases with similar clinical features, radiological features and common variants in <jats:italic>EIF2B5<\/jats:italic>.<\/jats:p>\n\t  <\/jats:sec>\n\t  <jats:sec id=\"S0317167124003081_as5\">\n\t    <jats:title>Conclusion:<\/jats:title>\n\t    <jats:p>Adult-onset EIF2B-pathies have a distinct clinical profile of female predominance with cerebellar ataxia, spasticity and cognitive decline as the commonest triad of clinical manifestations and leukoencephalopathy with rarefaction on brain MRI. Variants in <jats:italic>EIF2B5<\/jats:italic> were common in the Asian and European cohorts and <jats:italic>EIF2B3<\/jats:italic> in the Indian cohort.<\/jats:p>\n\t  <\/jats:sec>","DOI":"10.1017\/cjn.2024.308","type":"journal-article","created":{"date-parts":[[2024,10,25]],"date-time":"2024-10-25T08:49:44Z","timestamp":1729846184000},"page":"1-8","source":"Crossref","is-referenced-by-count":1,"title":["Adult-Onset EIF2B-Pathies: A Clinical, Imaging and Genetic Profiling with Literature Review"],"prefix":"10.1017","author":[{"given":"Sangeeth","family":"Thuppanattumadam 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