fCJDFamilial Creutzfeldt-Jakob Disease
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References in periodicals archive ?
Sano and colleagues evaluated the RT-QuIC assay using 56 CSF samples from patients with genetic prion disease, including 20 cases of GSS with a P102L mutation, 12 cases of FFI with a D178N mutation, and 24 cases of fCJD, comprising 22 cases with an E200K mutation and 2 with a V203I mutation [45].
fCJD is caused by the inherited E200K point mutation, where the amino acid glutamic acid is replaced by lysine at position 200.
In humans the most common TSEs are sporadic, familial, and variant Creutzfeldt-Jakob disease (sCJD, fCJD, and vCJD, respectively).