PrP systemic amyloidosis is an extremely rare and unusual form of inherited prion disease.
The initial presentation of this disease involves chronic diarrhea and autonomic neuropathy before progressing into neurodegeneration.
[1] The initial presentation of PrP systemic amyloidosis is chronic diarrhea in the fourth decade of life, which may be misdiagnosed as Crohn's disease or irritable bowel syndrome.
In one case, the disease caused optic nerve atrophy and visual disturbances in a Japanese woman.
[2] Eventually, the disease will impact the central nervous symptom, leading to cognitive decline, seizures, and death.