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Case of fatal familial insomnia caused by a d178n mutation with phenotypic similarity to Hashimoto’s encephalopathy

15 Jul 2018

Abstract excerpt

Fatal familial insomnia (FFI) is a rare prion disease commonly inherited in an autosomal dominant pattern from a mutation in the PRioN Protein (PRNP) gene. Hashimoto's encephalopathy (HE) is characterised by encephalopathy associated with antithyroid peroxidase (TPO) or antithyroglobulin (Tg) antibodies. These two conditions characteristically have differing clinical presentations with dramatically different...

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PMID: 30012679
DOI: 10.1136/bcr-2018-225155

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