{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,28]],"date-time":"2026-07-28T12:02:02Z","timestamp":1785240122764,"version":"3.55.0"},"reference-count":28,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2026,7,13]],"date-time":"2026-07-13T00:00:00Z","timestamp":1783900800000},"content-version":"vor","delay-in-days":12,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T00:00:00Z","timestamp":1782864000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Euro J of Neurology"],"published-print":{"date-parts":[[2026,7]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>\n                      To report an atypical phenotype associated with two rare\n                      <jats:italic>COL4A1<\/jats:italic>\n                      glycine missense variants located in exon 23.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Clinical, neuropsychological, and brain imaging data of four patients with such variants were reported.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Four unrelated patients presented with late\u2010onset cognitive alterations starting between 55 and 65\u2009years of age. Brain magnetic resonance imaging (MRI) showed extensive white\u2010matter hyperintensities on T2 or Flair images in all subjects, associated with multiple dilated perivascular spaces in the basal ganglia with features of\n                      <jats:italic>status cribrosum<\/jats:italic>\n                      in the three oldest individuals. None of the patients had a history of haemorrhagic stroke. Three of these patients had previously experienced mood disturbances. All had a family history of depression and\/or suicide. Three of these unrelated patients shared a rare missense variant p.(Gly474Arg) in\n                      <jats:italic>COL4A1<\/jats:italic>\n                      , whereas the fourth one carried a p.(Gly486Glu) variant; these two variants affect two closely linked glycine residues encoded by exon 23 and located in a major cell\u2010binding site of the triple helix.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      Missense variants affecting closely clustered glycine residues within the glycine\u2013X\u2013Y repeats encoded by exon 23 of\n                      <jats:italic>COL4A1<\/jats:italic>\n                      are associated with an atypical, late\u2010onset form of cerebral small vessel disease, characterised by diffuse leukoencephalopathy with a\n                      <jats:italic>status cribrosum<\/jats:italic>\n                      pattern and predominantly cognitive and\/or neuropsychiatric manifestations.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/ene.70692","type":"journal-article","created":{"date-parts":[[2026,7,13]],"date-time":"2026-07-13T07:17:20Z","timestamp":1783927040000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Late Cognitive or Mood Alterations With \u2018Status Cribrosum\u2019 and Diffuse White Matter Lesions: A New Cerebral Small Vessel Disease Phenotype Associated With Rare\n                    <scp>\n                      <i>COL4A1<\/i>\n                    <\/scp>\n                    Variants Located Within Exon 23"],"prefix":"10.1111","volume":"33","author":[{"given":"H\u00e9l\u00e8ne","family":"Morel","sequence":"first","affiliation":[{"name":"Department of Genetics Bichat Claude\u2010Bernard Hospital, AP\u2010HP  Paris 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