{
  "abstract": "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>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 (OPTN) mutation. She experienced progressive auditory agnosias including musical agnosia and eventual mutism. A review of the literature reveals wide phenotypic variability of people with OPTN variants, emphasising the importance of genetic testing beyond that predicted by classical phenotypes.",
  "authors": [
    {
      "affiliations": [
        "Department of Neurology, The Royal Melbourne Hospital, Melbourne, Victoria, Australia"
      ],
      "name": "Ashley Park"
    },
    {
      "affiliations": [
        "Department of Genomic Medicine & Familial Cancer, The Royal Melbourne Hospital, Melbourne, Victoria, Australia"
      ],
      "name": "Kirsty West"
    },
    {
      "affiliations": [
        "Department of Neurology, The Royal Melbourne Hospital, Melbourne, Victoria, Australia",
        "Eastern Neurosciences, Eastern Cognitive Disorders Clinic, Melbourne, Victoria, Australia"
      ],
      "name": "David Darby"
    },
    {
      "affiliations": [
        "Department of Neurology, The Royal Melbourne Hospital, Melbourne, Victoria, Australia",
        "Eastern Neurosciences, Eastern Cognitive Disorders Clinic, Melbourne, Victoria, Australia",
        "Cognitive Health Initiative, Monash University Central and Eastern Clinical School, Melbourne, Victoria, Australia"
      ],
      "name": "Amy Brodtmann"
    }
  ],
  "title": "Optineurin mutation-associated language variant frontotemporal dementia",
  "uid": "653438b7-7798-5aea-89c4-a61564610d4f"
}