Variably protease-sensitive prionopathy presenting within ALS/FTD spectrum

We report clinico-pathological features of a 65-year-old woman and a 56-yearold 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 cas...

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Bibliographic Details
Published in:Annals of clinical and translational neurology 2018-09
Main Authors: Vicente-Pascual, Mikel, Rossi, Marcello, Gámez, Josep, Lladó, Albert, Valls Solé, Josep, Grau-Rivera, Oriol, Ávila Polo, Rainiero, Llorens Torres, Franc, Zerr, Inga, Ferrer, Isidro (Ferrer Abizanda), Nos, Carlos, Parchi, Piero, Sánchez del Valle Díaz, Raquel, Gelpi, Ellen
Format: Article
Language:English
Subjects:
Amyotrophic lateral sclerosis
Enzims proteolítics
Esclerosi lateral amiotròfica
Pathology
Patologia
Proteolytic enzymes
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Summary:We report clinico-pathological features of a 65-year-old woman and a 56-yearold 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.
ISSN:2328-9503
2328-9503