neurologic disorders
Variably Protease Sensitive Prionopathy (VPSPr)
Introduction
Variably protease-sensitive prionopathy (VPSPr) is a rare sporadic prion disease (identified in 2008). (See also Overview of Prion Diseases .) Variably protease-sensitive prionopathy occurs in 1 to 2/100 million people. VPSPr resembles Gerstmann-Sträussler-Scheinker Disease (GSS) (GSS) in terms of the characteristics of the abnormal prion protein (PrP Clinical manifestations differ from those of Creutzfeldt-Jakob Disease (CJD) , and the PrP 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 years, and duration of survival is 24 months. About 40% of patients have a family history of dementia. Diagnosis of variably protease-sensitive prionopathy 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 thePRNPgene. There is only supportive treatment for VPSPr. 