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Five young adult Russian Blue cats from two related families were presented for progressively worsening RBD episodes frequently associated with urinary loss. Three of these cats also suffered urinary retention with overflow incontinence between RBD episodes. Neurological examination revealed a large bladder in three cats and a bilateral mydriasis with absent pupillary light reflexes in two cats; further examinations were unremarkable. Treatment attempts were unsatisfactory, with four cats being euthanized. Histopathology of the brain did not reveal any abnormalities. A disease\u2010associated 23\u2010bp deletion in exon 1 of <jats:italic>FAM8A1<\/jats:italic> (NC_058372.1:g.11622168_11622190del), introducing a frameshift at codon 162 and a premature stop codon at codon 276 (XM_019831563.3:c.485_507del p.(Gln162Profs*115)), was identified by whole genome sequencing. The variant segregated in the affected families with a recessive mode of inheritance, showed an allele frequency of 1.5% in West\u2010European Russian Blue cats (<jats:italic>N<\/jats:italic>\u2009=\u200968) and was not present in 276 cats belonging to 32 other breeds (including the closely related Nebelung breed). The variant FAM8A1 isoform is predicted to affect the assembly and activity of the endoplasmic reticulum\u2010associated protein degradation pathway, which plays an important role in cell homeostasis. RBD and urinary retention syndrome is a hereditary encephalopathy affecting Russian Blue cats. A genetic test now allows diagnosis and prevention of this debilitating disease.<\/jats:p>","DOI":"10.1111\/age.70013","type":"journal-article","created":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T14:54:39Z","timestamp":1745420079000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["A <i>FAM8A1<\/i> frameshift variant is associated with <scp>REM<\/scp> sleep behavior disorder, urinary retention, and mydriasis in Russian Blue cats"],"prefix":"10.1111","volume":"56","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5208-2605","authenticated-orcid":false,"given":"Kimberley","family":"Stee","sequence":"first","affiliation":[{"name":"Small Animals Department, Faculty of Veterinary Medicine Ghent University  Merelbeke Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4316-8984","authenticated-orcid":false,"given":"Mario","family":"Van Poucke","sequence":"additional","affiliation":[{"name":"Department of Veterinary and Biosciences, Faculty of Veterinary Medicine Ghent University  Merelbeke Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7203-0634","authenticated-orcid":false,"given":"Jaume Alomar","family":"Huguet","sequence":"additional","affiliation":[{"name":"Mouse and Comparative Pathology Unit, Department of Animal Medicine and Surgery, Faculty of Veterinary Medicine Universitat Aut\u00f2noma de Barcelona  Bellaterra (Barcelona) Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0935-7941","authenticated-orcid":false,"given":"Mart\u00ed Pumarola","family":"Batlle","sequence":"additional","affiliation":[{"name":"Mouse and Comparative Pathology Unit, Department of Animal Medicine and Surgery, Faculty of Veterinary Medicine Universitat Aut\u00f2noma de Barcelona  Bellaterra (Barcelona) Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0668-8996","authenticated-orcid":false,"given":"Kenny","family":"Bossens","sequence":"additional","affiliation":[{"name":"Dierenkliniek Orion  Herentals Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4637-2275","authenticated-orcid":false,"given":"Ariel","family":"Cohen\u2010Solal","sequence":"additional","affiliation":[{"name":"Anicura Centre d'Imagerie M\u00e9dicale Vetimacs  Brussels Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2193-7244","authenticated-orcid":false,"given":"Leen","family":"Van Brantegem","sequence":"additional","affiliation":[{"name":"Department of Pathobiology, Pharmacology and Zoological Medicine, Faculty of Veterinary Medicine University of Ghent  Ghent Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-3996-2286","authenticated-orcid":false,"given":"Kaatje","family":"Kromhout","sequence":"additional","affiliation":[{"name":"Department of Morphology, Imaging, Orthopedics, Rehabilitation and Nutrition, Faculty of Veterinary Medicine University of Ghent  Ghent Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3590-8348","authenticated-orcid":false,"given":"Sofie F. 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