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]
| PrP systemic amyloidosis | |
|---|---|
| Other names | Prion 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 onset | Adulthood |
| Causes | Mutation of PRNP |
| Treatment | Palliative care |
| Prognosis | Life expectancy up to 30 years after symptom development |
Symptoms
editThe 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 symptom, leading to cognitive decline, seizures, and death.[1]
Causes
editPrP 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
edit- ^ a b c d 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.
- ^ 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.
- ^ 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.
- ^ 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.