Variably protease-sensitive prionopathy (VPSPr)
Evidence-based neurology checklist on variably protease-sensitive prionopathy (vpspr): Genetics Cases are typically homozygous at 129 VV They may also occur with 129MM and 129MV genotypes There is a family history of cognitive impairment There are no PRNP gene mutations Pathological features…
Genetics
- Cases are typically homozygous at 129 VV
- They may also occur with 129MM and 129MV genotypes
- There is a family history of cognitive impairment
- There are no PRNP gene mutations
Pathological features
Neurological features
Psychiatric features
Brain imaging
References
- Zou WQ, Puoti G, Xiao X, et al. Variably protease-sensitive prionopathy: a new sporadic disease of the prion protein. Ann Neurol 2010; 68:162-172.
- Imran M, Mahmood S. An overview of human prion diseases. Virol J 2011; 8:559.
- Head MW, Yull HM, Ritchie DL, Langeveld JP, Fletcher NA, Knight RS, Ironside JW. Variably protease-sensitive prionopathy in the UK: a retrospective review 1991-2008. Brain 2013; 136:1102-1115.
