{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T05:08:26Z","timestamp":1780463306468,"version":"3.54.1"},"reference-count":19,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T00:00:00Z","timestamp":1780444800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Neurol."],"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      HIST1H1E syndrome is caused by frameshift variants in the\n                      <jats:italic>HIST1H1E<\/jats:italic>\n                      gene; while strabismus and refractive errors have been previously reported, this is the first case describing optic and cerebellar atrophy in an affected individual to our knowledge.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>A 51-year-old woman with intellectual disability, recurrent falls, and progressive visual difficulties required comprehensive ophthalmic, neurologic, and genetic evaluation.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Systemic examination revealed characteristic facial dysmorphism, brachydactyly, ataxic gait, tremor, and positive Romberg's sign. Ophthalmic examination showed bilateral optic disc pallor with patchy visual field deficits. Optical coherence tomography (OCT) confirmed retinal nerve fiber involvement and ganglion cell layer (GCL) loss. Electrophysiology supported bilateral optic neuropathies. Computed Tomography demonstrated optic nerve and cerebellar atrophy. Whole-exome sequencing identified a pathogenic heterozygous variant c.464dupC.p.(Lys157Glufs\n                      <jats:sup>*<\/jats:sup>\n                      39) in the\n                      <jats:italic>HIST1H1E<\/jats:italic>\n                      gene.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>This patient expands the HIST1H1E syndrome phenotype to include cerebellar and optic nerve atrophy compatible with a neurodegenerative process.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.3389\/fneur.2026.1820525","type":"journal-article","created":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T04:50:11Z","timestamp":1780462211000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Expanding the clinical phenotype of HIST1H1E syndrome: cerebellar atrophy and bilateral optic neuropathy, a case report"],"prefix":"10.3389","volume":"17","author":[{"given":"Zinnia Sen Yen","family":"Lai","sequence":"first","affiliation":[{"name":"Sir Charles Gairdner Hospital","place":["Nedlands, WA, Australia"]},{"name":"Neurodegenerative Disorders Research Pty Ltd","place":["West Perth, WA, Australia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicola","family":"O'Neil","sequence":"additional","affiliation":[{"name":"Genetic Health WA","place":["Subiaco, WA, Australia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ezann","family":"Siebert","sequence":"additional","affiliation":[{"name":"Ophthalmology Department, Fremantle Hospital","place":["Fremantle, WA, Australia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephen","family":"Colley","sequence":"additional","affiliation":[{"name":"Western Eye","place":["Mosman Park, WA, Australia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter K.","family":"Panegyres","sequence":"additional","affiliation":[{"name":"Neurodegenerative Disorders Research Pty Ltd","place":["West Perth, WA, Australia"]},{"name":"School of Medicine, The University of Western Australia","place":["Nedlands, WA, Australia"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2026,6,3]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"2049","DOI":"10.1002\/ajmg.a.61321","article-title":"HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: a study to clarify the HIST1H1E syndrome phenotype in 30 individuals","volume":"179","author":"Burkardt","year":"2019","journal-title":"Am J Med Genet A"},{"key":"B2","doi-asserted-by":"publisher","first-page":"725","DOI":"10.1016\/j.ajhg.2017.03.010","article-title":"Mutations in epigenetic regulation genes are a major cause of overgrowth with intellectual 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