Variably protease-sensitive prionopathy (VPSPr)
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Variably protease-sensitive prionopathy (VPSPr). Cases are typically homozygous at 129 VV. Fully referenced neurology checklist.
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
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Neurological features
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Psychiatric features
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Brain imaging
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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.
