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18F-FDG PET Brain in a Patient With Fatal Familial Insomnia
Wei Ying Tham, Yee-Liang Thian1, Pavanni Ratnagopal2
1Department of Diagnostic Imaging, National University Hospital.
Clinical Nuclear Medicine
|June 8, 2018
Summary
Familial fatal insomnia, a rare prion disease, was diagnosed in a woman with cognitive decline and sleep disturbances. Genetic testing confirmed a PRNP gene mutation, identifying this fatal inherited neurological disorder.
Area of Science:
- Neurology
- Genetics
- Neuroimaging
Background:
- Familial fatal insomnia (FFI) is a rare, autosomal dominant prion disease.
- It is characterized by progressive insomnia, cognitive decline, and autonomic dysfunction.
- FFI leads to premature death, often within months to years of symptom onset.
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