Variably protease-sensitive prionopathy

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Variably protease-sensitive prionopathy

A rare human prion disease characterized by accumulation of abnormal prion protein markedly less protease-resistant than in other prion diseases depending on the genotype at codon 129 of the prion protein gene. No mutations are found in the coding sequence of the gene. Neuropathological analysis shows spongiform change and prion protein deposition with microplaques in the cerebellum. Patients present with slowly progressive cognitive and motor decline psychiatric symptoms ataxia myoclonus or tremor among others. The disease is fatal and transmissible to other individuals.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: // Data version September 2023.

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