In this Review, Mead and Reilly present a new form of prion disease, characterized by systemic amyloidosis, diarrhoea, neuropathic pain and postural hypotension. So-called PrP systemic amyloidosis is caused by mutations in the prion protein gene that result in a premature stop codon, and all mutations identified to date are autosomal dominant. The authors recommend a standardized and conservative approach to the diagnosis and treatment of patients with PrP systemic amyloidosis.
