Prion Disease Associated With Diarrhea And Autonomic Neuropathy

Prion disease with diarrhea and autonomic neuropathy describes a novel prion disease that manifests with peripheral instead of nervous system symptoms.

This disease was identified in 2013 in the enlarged British family and has not been officially called yet.

Prion disease with diarrhea and autonomic neuropathy describes a novel prion disease that manifests with peripheral instead of nervous system symptoms. This disease was identified in 2013 in the enlarged British family and has not been officially called yet. This disease is different from other prion diseases because prion amyloid is not limited to the CNS, but is distributed in the peripheral nerves and internal organs; Thus peripheral symptoms predominate initially, and CNS symptoms occur late. It is connected to a new mutation in the prion gene (Y163X mutation), resulting in the truncation of the mutated prion protein; so is missing from the mutant protein of the armature, which typically binds the prion protein to cell membranes and presumably favors the flow of the prion protein in body fluids and migration in other tissues. This new prion disease shows that a new mutation can radically change where the abnormal proteins store and what symptoms they cause, and it suggests that the diagnosis of prion disease in patients with unexplained chronic diarrhea and neuropathy or with an unexplained syndrome a family amyloid polyneuropathy should be considered similar. Symptoms begin in early adulthood; these include chronic watery diarrhea, autonomic failure (z. B. urinary retention, urinary incontinence, orthostatic hypotension) and a sensory peripheral neuropathy in the first place. Cognitive decline and seizures occur when patients are in their 40s or 50s. The disease progresses over decades; patients up to 30 years after symptoms have developed life. There is only symptomatic treatment for this disease.

Leave a Reply