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Magnetic resonance imaging revealed diffuse global brain atrophy. Due to the severity and frequency of its seizures, the cat was euthanized at 22 months of age. Microscopic examination of the cerebellum, cerebral cortex and brainstem revealed pronounced intracellular accumulations of autofluorescent storage material and inflammation in all 3 brain regions. Ultrastructural examination of the storage material indicated that it consisted almost completely of tightly-packed membrane-like material. The clinical signs and neuropathology strongly suggested that the cat suffered from a form of neuronal ceroid lipofuscinosis (NCL). Whole exome sequence analysis was performed on genomic DNA from the affected cat. Comparison of the sequence data to whole exome sequence data from 39 unaffected cats and whole genome sequence data from an additional 195 unaffected cats revealed a homozygous variant in CLN6 that was unique to the affected cat. This variant was predicted to cause a stop gain in the transcript due to a guanine to adenine transition (ENSFCAT00000025909:c.668G &amp;gt; A; XM_003987007.5:c.668G &amp;gt; A) and was the sole loss of function variant detected. CLN6 variants in other species, including humans, dogs, and sheep, are associated with the CLN6 form of NCL. Based on the affected cat\u2019s clinical signs, neuropathology and molecular genetic analysis, we conclude that the cat\u2019s disorder resulted from the loss of function of CLN6. This study is only the second to identify the molecular genetic basis of a feline NCL. Other cats exhibiting similar signs can now be screened for the CLN6 variant. This could lead to establishment of a feline model of CLN6 disease that could be used in therapeutic intervention studies.<\/jats:p>","DOI":"10.1534\/g3.120.401407","type":"journal-article","created":{"date-parts":[[2020,6,10]],"date-time":"2020-06-10T02:44:32Z","timestamp":1591757072000},"page":"2741-2751","source":"Crossref","is-referenced-by-count":13,"title":["Neuronal Ceroid Lipofuscinosis in a Domestic Cat Associated with a DNA Sequence Variant That Creates a Premature Stop Codon in<i>CLN6<\/i>"],"prefix":"10.1093","volume":"10","author":[{"given":"Martin L","family":"Katz","sequence":"first","affiliation":[{"name":"Neurodegenerative Diseases Research Laboratory and Department of Ophthalmology"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Reuben M","family":"Buckley","sequence":"additional","affiliation":[{"name":"Department of Veterinary Medicine and Surgery"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vanessa","family":"Biegen","sequence":"additional","affiliation":[{"name":"VCA Animal Specialty Group, San Diego, CA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dennis P","family":"O\u2019Brien","sequence":"additional","affiliation":[{"name":"Department of Veterinary Medicine and Surgery"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gayle C","family":"Johnson","sequence":"additional","affiliation":[{"name":"Department of Veterinary Pathobiology"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wesley C","family":"Warren","sequence":"additional","affiliation":[{"name":"Life Sciences Center, University of Missouri, Columbia, MO and"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leslie A","family":"Lyons","sequence":"additional","affiliation":[{"name":"Department of Veterinary Medicine and Surgery"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2020,8,1]]},"reference":[{"key":"2021042011141411700_bib1","doi-asserted-by":"publisher","first-page":"47","DOI":"10.1007\/s00335-016-9668-1","article-title":"A FAS-ligand variant associated with autoimmune lymphoproliferative syndrome in cats.","volume":"28","author":"Aberdein","year":"2017","journal-title":"Mamm. 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