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Area of Science:

  • Neuroscience
  • Genetics
  • Neurology

Background:

  • Frontotemporal dementia (FTD) is a group of progressive neurodegenerative disorders.
  • Atypical language variants of FTD present with diverse clinical manifestations.
  • Optineurin (OPTN) gene mutations have been linked to various neurodegenerative conditions.

Purpose of the Study:

  • To report a case of atypical FTD associated with a homozygous OPTN mutation.
  • To discuss the phenotypic variability of OPTN-related disorders.
  • To emphasize the significance of genetic testing in diagnosing FTD.

Main Methods:

  • Clinical presentation and neurological examination.
  • Magnetic Resonance Imaging (MRI) and F-18 fluorodeoxyglucose-positron emission tomography (FDG-PET) scans.
  • Genetic testing for mutations in the OPTN gene.

Main Results:

  • The patient presented with progressive language difficulties, visual and auditory hallucinations, and upper motor neuron signs.
  • MRI revealed bilateral superior temporal atrophy, and FDG-PET showed right temporal hypometabolism.
  • Genetic testing identified a homozygous OPTN mutation, consistent with a diagnosis of atypical FTD.

Conclusions:

  • Homozygous OPTN mutations can cause atypical or mixed language variant FTD.
  • Phenotypic variability in OPTN-related disorders necessitates comprehensive genetic evaluation.
  • Genetic testing is crucial for accurate diagnosis and understanding the spectrum of FTD.