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A case of fatal familial insomnia: diagnostic and therapeutic approaches.

Publication ,  Journal Article
Rose, DK; Liu, AJ
Published in: Neurocase
February 2022

Fatal Familial Insomnia (FFI) is an uncommon but fatal genetic condition that is characterized by severe progressive insomnia, dysautonomia, neuropsychiatric changes, and gait instability. Diagnostic workup includes genetic testing, EEG, MRI imaging of the brain, polysomnography, and CSF analysis. MRI brain imaging may be notable for areas of restricted diffusion in the thalamus. Therapeutic approaches are centered on symptom management, predominantly for insomnia. It is important for clinicians to consider FFI in patients presenting with progressive insomnia, cognitive deficits, and gait instability, and to direct patients and families toward genetic counseling and palliative care services.

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Published In

Neurocase

DOI

EISSN

1465-3656

Publication Date

February 2022

Volume

28

Issue

1

Start / End Page

131 / 134

Location

England

Related Subject Headings

  • Sleep Initiation and Maintenance Disorders
  • Prions
  • Neuroimaging
  • Insomnia, Fatal Familial
  • Humans
  • Experimental Psychology
  • Brain
  • 5203 Clinical and health psychology
  • 5202 Biological psychology
  • 3209 Neurosciences
 

Citation

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Rose, D. K., & Liu, A. J. (2022). A case of fatal familial insomnia: diagnostic and therapeutic approaches. Neurocase, 28(1), 131–134. https://doi.org/10.1080/13554794.2021.2025249
Rose, Deborah K., and Andy J. Liu. “A case of fatal familial insomnia: diagnostic and therapeutic approaches.Neurocase 28, no. 1 (February 2022): 131–34. https://doi.org/10.1080/13554794.2021.2025249.
Rose DK, Liu AJ. A case of fatal familial insomnia: diagnostic and therapeutic approaches. Neurocase. 2022 Feb;28(1):131–4.
Rose, Deborah K., and Andy J. Liu. “A case of fatal familial insomnia: diagnostic and therapeutic approaches.Neurocase, vol. 28, no. 1, Feb. 2022, pp. 131–34. Pubmed, doi:10.1080/13554794.2021.2025249.
Rose DK, Liu AJ. A case of fatal familial insomnia: diagnostic and therapeutic approaches. Neurocase. 2022 Feb;28(1):131–134.

Published In

Neurocase

DOI

EISSN

1465-3656

Publication Date

February 2022

Volume

28

Issue

1

Start / End Page

131 / 134

Location

England

Related Subject Headings

  • Sleep Initiation and Maintenance Disorders
  • Prions
  • Neuroimaging
  • Insomnia, Fatal Familial
  • Humans
  • Experimental Psychology
  • Brain
  • 5203 Clinical and health psychology
  • 5202 Biological psychology
  • 3209 Neurosciences