Genetic prion disease: D178N with 129MV disease modifying polymorphism-a clinical phenotype.
Tracie Huey-Lin TanRichard J StarkJohn A WaterstonOwen WhiteDominic ThyagarajanMastura MonifPublished in: BMJ neurology open (2020)
Patients with genetic prion disease may have no known family history and normal EEG, MRI brain and CSF findings. PRNP gene testing should be considered for patients with subacute progressive neurological and autonomic dysfunction.