{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T20:42:58Z","timestamp":1789764178052,"version":"4.0.1"},"reference-count":40,"publisher":"MDPI AG","issue":"7","license":[{"start":{"date-parts":[[2021,6,23]],"date-time":"2021-06-23T00:00:00Z","timestamp":1624406400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>CLN8 is a ubiquitously expressed membrane-spanning protein that localizes primarily in the ER, with partial localization in the ER-Golgi intermediate compartment. Mutations in CLN8 cause late-infantile neuronal ceroid lipofuscinosis (LINCL). We describe a female pediatric patient with LINCL. She exhibited a typical phenotype associated with LINCL, except she did not present spontaneous myoclonus, her symptoms occurrence was slower and developed focal sensory visual seizures. In addition, whole-exome sequencing identified a novel homozygous variant in CLN8, c.531G&gt;T, resulting in p.Trp177Cys. Ultrastructural examination featured abundant lipofuscin deposits within mucosal cells, macrophages, and monocytes. We report a novel CLN8 mutation as a cause for NCL8 in a girl with developmental delay and epilepsy, cerebellar syndrome, visual loss, and progressive cognitive and motor regression. This case, together with an analysis of the available literature, emphasizes the existence of a continuous spectrum of CLN8-associated phenotypes rather than a sharp distinction between them.<\/jats:p>","DOI":"10.3390\/genes12070956","type":"journal-article","created":{"date-parts":[[2021,6,23]],"date-time":"2021-06-23T11:28:41Z","timestamp":1624447721000},"page":"956","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["CLN8 Mutations Presenting with a Phenotypic Continuum of Neuronal Ceroid Lipofuscinosis\u2014Literature Review and Case Report"],"prefix":"10.3390","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2193-3657","authenticated-orcid":false,"given":"Magdalena","family":"Badura-Stronka","sequence":"first","affiliation":[{"name":"Chair and Department of Medical Genetics, Poznan University of Medical Sciences, 60-352 Poznan, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Winczewska-Wiktor","sequence":"additional","affiliation":[{"name":"Chair and Department of Developmental Neurology, Poznan University of Medical Sciences, 60-355 Poznan, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3606-7296","authenticated-orcid":false,"given":"Anna","family":"Pietrzak","sequence":"additional","affiliation":[{"name":"Department of Neurology, 10th Military Research Hospital and Polyclinic, 85-681 Bydgoszcz, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adam Sebastian","family":"Hirschfeld","sequence":"additional","affiliation":[{"name":"Chair and Department of Medical Genetics, Poznan University of Medical Sciences, 60-352 Poznan, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3794-7623","authenticated-orcid":false,"given":"Tomasz","family":"Zemojtel","sequence":"additional","affiliation":[{"name":"BIH Genomics Core Unit, Campus Mitte, Charite University Medicine, 13353 Berlin, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8377-8496","authenticated-orcid":false,"given":"Katarzyna","family":"Wo\u0142y\u0144ska","sequence":"additional","affiliation":[{"name":"Chair and Department of Medical Genetics, Poznan University of Medical Sciences, 60-352 Poznan, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katarzyna","family":"Bednarek-Rajewska","sequence":"additional","affiliation":[{"name":"Department of Clinical Pathology, Poznan University of Medical Sciences, 60-355 Poznan, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monika","family":"Seget-Dubaniewicz","sequence":"additional","affiliation":[{"name":"Department of Clinical Pathology, Poznan University of Medical Sciences, 60-355 Poznan, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agnieszka","family":"Matheisel","sequence":"additional","affiliation":[{"name":"Department of Developmental Neurology, Gdansk Medical University, 80-307 Gdansk, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Latos-Bielenska","sequence":"additional","affiliation":[{"name":"Chair and Department of Medical Genetics, Poznan University of Medical Sciences, 60-352 Poznan, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9839-8162","authenticated-orcid":false,"given":"Barbara","family":"Steinborn","sequence":"additional","affiliation":[{"name":"Chair and Department of Developmental Neurology, Poznan University of Medical Sciences, 60-355 Poznan, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,6,23]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1684\/epd.2016.0844","article-title":"Neuronal ceroid lipofuscinoses","volume":"18","author":"Nita","year":"2016","journal-title":"Epileptic Disord."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"1807","DOI":"10.1016\/j.bbadis.2012.11.014","article-title":"Human pathology in NCL","volume":"1832","author":"Anderson","year":"2013","journal-title":"Biochim. 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