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Prion Disease Associated With Diarrhea and Autonomic Neuropathy

(Prion Protein Systemic Amyloidosis)

By Pierluigi Gambetti, MD, Professor of Pathology, Case Western Reserve University

Prion disease associated with diarrhea and autonomic neuropathy is a newly discovered prion disease that initially affects nerves outside the brain, causing diarrhea and loss of feeling in the feet.

In 2013, researchers identified this new prion disease in a British family.

Prion disease associated with diarrhea and autonomic neuropathy differs from other prion diseases as follows:

  • It is caused by a different mutation in the prion gene.

  • The prions accumulate in nerves all over the body, including those that regulate body processes such as blood pressure (autonomic nervous system). In other prion diseases, prions accumulate only or mainly in the brain.

  • It causes very different symptoms, such as diarrhea.

  • It progresses slowly.

Symptoms begin when people are in their 30s. People have persistent watery diarrhea and bloating. They may lose weight. Because the nerves that control body processes are affected, people may not be able to pass urine (called urinary retention) or may lose control of their bladder. Their blood pressure may drop when they stand up, causing them to feel dizzy or light-headed (called orthostatic hypotension). People may lose sensation in their feet. Later, when people are in their 40s or 50s, mental function deteriorates, and seizures may occur.

The disease progresses over decades. People may live up to 30 years after symptoms develop.

There is no cure at present. Treatment focuses on relieving symptoms.