Variably protease-sensitive prionopathy

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Variably protease-sensitive prionopathy (VPSPr) is a sporadic prion protein disease identified in 2008[1] and first described in 2010.[2]

VPSPr is very rare, occurring in 2 to 3/100 million people. It has similarities to Creutzfeldt-Jakob disease but clinical manifestations differ somewhat and the abnormal prion protein (PrP) is less resistant to digestion by proteases; some variants are more sensitve to proteases than others, hence the name: variably protease-sensitive.

Patients present with psychiatric symptoms, speech deficits (aphasia and/or dysarthria), and cognitive impairment. Ataxia and parkinsonism can develop. Average age at onset is 70 yr, and duration of survival is 24 mo. About 40% of patients have a family history of dementia.

Diagnosis is difficult. MRI, EEG, and tests for 14-3-3 protein and tau are usually not helpful, and no mutations have been observed in the coding region of the PrP gene.

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  1. ^ "The Merck Manual - Variably Protease-Sensitive Prionopathy (VPSPr)". Merck Sharp & Dohme Corp., a subsidiary of Merck & Co. Retrieved 16 November 2014. 
  2. ^ Zou, W.; Puoti, G.; Xiao, X.; Yuan, J.; Qing, L.; Cali, I.; Shimoji, M.; Langeveld, J.; Castellani, R.; Notari, S.; Crain, B.; Schmidt, R. E.; Geschwind, M.; Dearmond, S. J.; Cairns, N. J.; Dickson, D.; Honig, L.; Torres, J. M.; Mastrianni, J.; Capellari, S.; Giaccone, G.; Belay, E. D.; Schonberger, L. B.; Cohen, M.; Perry, G.; Kong, Q.; Parchi, P.; Tagliavini, F.; Gambetti, P. (2010). "Variably protease-sensitive prionopathy: A new sporadic disease of the prion protein". Annals of neurology 68 (2): 162–172. doi:10.1002/ana.22094. PMC 3032610. PMID 20695009.  edit

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