{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,25]],"date-time":"2025-09-25T11:24:43Z","timestamp":1758799483472,"version":"3.44.0"},"reference-count":21,"publisher":"BMJ","issue":"9","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2025,9,10]]},"published-print":{"date-parts":[[2025,9]]},"abstract":"<jats:p>A right-handed woman in her early 50s presented with progressive language difficulties with visual and auditory hallucinations. Upper motor neuron signs were present without lower motor neuron signs, insufficient to make a diagnosis of amyotrophic lateral sclerosis (ALS). MRI showed bilateral superior temporal atrophy (right&gt;left) and F-18 fluorodeoxyglucose-positron emmission tomography (FDG-PET) scan showed right temporal hypometabolism. Her clinical diagnosis was atypical or mixed language variant frontotemporal dementia (FTD) given the presence of agrammatism and phonemic intrusions. There was a family history of FTD and ALS. Genetic testing revealed a homozygous optineurin (<jats:italic>OPTN<\/jats:italic>) mutation. She experienced progressive auditory agnosias including musical agnosia and eventual mutism. A review of the literature reveals wide phenotypic variability of people with <jats:italic>OPTN<\/jats:italic> variants, emphasising the importance of genetic testing beyond that predicted by classical phenotypes.<\/jats:p>","DOI":"10.1136\/bcr-2025-266544","type":"journal-article","created":{"date-parts":[[2025,9,25]],"date-time":"2025-09-25T10:30:34Z","timestamp":1758796234000},"page":"e266544","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Optineurin mutation-associated language variant frontotemporal dementia"],"prefix":"10.1136","volume":"18","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0859-2277","authenticated-orcid":false,"given":"Ashley","family":"Park","sequence":"first","affiliation":[{"name":"Department of Neurology, The Royal Melbourne Hospital, Melbourne, Victoria, 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