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Published on: March 12, 2018
Variably Protease-Sensitive Prionopathy: Two New Cases With Motor Neuron-Dementia Syndrome
María Elena Erro1,2, María Victoria Zelaya3,4, Hasier Eraña5,6,7
1Department of Neurology, Hospital Universitario de Navarra (HUN), Pamplona, Spain.
Abstract:
We describe two patients with variably protease-sensitive prionopathy (VPSPr) who developed progressive upper motor neuron symptoms, insomnia, behavioral and cognitive decline, compatible with primary lateral sclerosis associated with frontotemporal dementia (FTD). Neuropathology revealed a spongiform encephalopathy with frontotemporal and pronounced thalamic involvement, associated with fine synaptic abnormal prion protein conformer (PrPSc) deposits, microplaques, and intraneuronal aggregates. Western blot analysis revealed a characteristic VPSPr proteolytic profile, lacking the diglycosylated band. Both patients were methionine homozygous at PRNP codon 129 and carried no pathogenic mutations. These cases illustrate that VPSPr can present with a prominent motor neuron syndrome and FTD features.
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