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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Detalles Bibliográficos
Autores: Vicente-Pascual, Mikel, Rossi, Marcello, Gámez, Josep, Lladó Plarrumaní, 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
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2018
País:España
Institución:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Repositorio:Recercat. Dipósit de la Recerca de Catalunya
OAI Identifier:oai:recercat.cat:2445/139916
Acceso en línea:https://hdl.handle.net/2445/139916
Access Level:acceso abierto
Palabra clave:Enzims proteolítics
Patologia
Esclerosi lateral amiotròfica
Proteolytic enzymes
Pathology
Amyotrophic lateral sclerosis
Descripción
Sumario: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.

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