Variably protease-sensitive prionopathy presenting within ALS/FTD spectrum

Marcello Rossi, Mikel Vicente-Pascual, Josep Gámez, Albert Lladó, Josep Valls, Oriol Grau-Rivera, Rainiero Ávila Polo, Franc Llorens, Inga Zerr, Isidre Ferrer, Carlos Nos, Piero Parchi, Raquel Sánchez-Valle, Ellen Gelpí

Research output: Contribution to journalArticlepeer-review


We report clinico-pathological features of a 65-year-old woman and a 56-year-old man with a 5-year clinical history who had clinical and neuropathological characteristics of upper and lower motor neuron disease consistent with amyotrophic lateral sclerosis, and a frontotemporal atrophy pattern in case 2 without TDP-43 pathology. Instead, spongiform change and pathological prion protein deposits were observed in several brain regions. No prion protein gene mutations were found. Western blot analysis showed a five-band profile compatible with variably protease-sensitive prionopathy. We conclude that this disease can display prolonged disease duration and clinico-pathological features within the ALS/FTLD spectrum.

Original languageEnglish
Pages (from-to)1297-1302
Number of pages6
JournalAnnals of Clinical and Translational Neurology
Issue number10
Publication statusPublished - Oct 1 2018

ASJC Scopus subject areas

  • Neuroscience(all)
  • Clinical Neurology


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