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Fatal familial insomnia

Chris Rhymes · British Journal of Neuroscience Nursing · 2006

There is a move in the scientific community away from using disease classifications which refer to the symptoms of inherited prion illnesses, such as Gerstmann-Sträussler-Scheinker syndrome, fatal familial insomnia and familial Creutzfeldt Jakob disease (CJD). This is because the same mutation can present with different symptoms and it is more accurate to name them after the mutation itself (e.g. P102L, D178N or E200K). Fatal familial insomnia is most commonly associated with the D178N mutation.

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