PrP systemic amyloidosis

Last updated
PrP systemic amyloidosis
Other namesPrion protein systemic amyloidosis, chronic diarrhea with HSAN, chronic diarrhea with hereditary sensory and autonomic neuropathy, prion disease associated with diarrhea and autonomic neuropathy
Specialty Neurology
Usual onsetAdulthood
CausesMutation of PRNP
Treatment Palliative care
Prognosis Life expectancy up to 30 years after symptom development

PrP systemic amyloidosis is an extremely rare and unusual form of inherited prion disease. Unlike most prion diseases, PrP systemic amyloidosis is not isolated to the central nervous system. The prion amyloid has extensive peripheral involvement, finding its way to peripheral nerves and internal organs. The initial presentation of this disease involves chronic diarrhea and autonomic neuropathy before progressing into neurodegeneration. [1]

Contents

Symptoms

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. [1] Sensory and/or autonomic neuropathy follows.

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 system, leading to cognitive decline, seizures, and death. [1]

Causes

PrP systemic amyloidosis is caused by a genetic truncation of PRNP. [3] [4]

There is concern of potential iatrogenic transmission, as bowel symptoms may be investigated or treated through surgical means. However, mouse studies did not show transmissibility. [1]

References

  1. 1 2 3 4 Mead, Simon; Gandhi, Sonia; Beck, Jon; Caine, Diana; Gajulapalli, Dilip; Carswell, Christopher; Hyare, Harpreet; Joiner, Susan; Ayling, Hilary; Lashley, Tammaryn; Linehan, Jacqueline M.; Al-Doujaily, Huda; Sharps, Bernadette; Revesz, Tamas; Sandberg, Malin K. (2013-11-14). "A Novel Prion Disease Associated with Diarrhea and Autonomic Neuropathy". New England Journal of Medicine. 369 (20): 1904–1914. doi:10.1056/NEJMoa1214747. ISSN   0028-4793. PMC   3863770 . PMID   24224623.
  2. ↑ Matsuzono, Kosuke; Kim, Younhee; Honda, Hiroyuki; Anan, Yuhei; Hashimoto, Yuto; Sano, Ichiya; Iwaki, Toru; Kitamoto, Tetsuyuki; Fujimoto, Shigeru (2021-09-15). "Optic nerve atrophy and visual disturbance following PRNP Y162X truncation mutation". Journal of the Neurological Sciences. 428: 117614. doi:10.1016/j.jns.2021.117614. ISSN   0022-510X. PMID   34403953.
  3. ↑ Mead, Simon; Reilly, Mary M. (February 2015). "A new prion disease: relationship with central and peripheral amyloidoses". Nature Reviews Neurology. 11 (2): 90–97. doi:10.1038/nrneurol.2014.263. ISSN   1759-4766. PMID   25623792.
  4. ↑ Capellari, Sabina; Baiardi, Simone; Rinaldi, Rita; Bartoletti-Stella, Anna; Graziano, Claudio; Piras, Silvia; Calandra-Buonaura, Giovanna; D'Angelo, Roberto; Terziotti, Camilla; Lodi, Raffaele; Donadio, Vincenzo; Pironi, Loris; Cortelli, Pietro; Parchi, Piero (2018-04-26). "Two novel PRNP truncating mutations broaden the spectrum of prion amyloidosis". Annals of Clinical and Translational Neurology. 5 (6): 777–783. doi:10.1002/acn3.568. ISSN   2328-9503. PMC   5989776 . PMID   29928661.
This page is based on this Wikipedia article
Text is available under the CC BY-SA 4.0 license; additional terms may apply.
Images, videos and audio are available under their respective licenses.