Variably protease‐sensitive prionopathy presenting within ALS/FTD spectrum

• Published in: Annals of clinical and translational neurology Vol. 5; no. 10; pp. 1297 - 1302
• Main Authors: Vicente‐Pascual, Mikel, Rossi, Marcello, Gámez, Josep, Lladó, Albert, Valls, Josep, Grau‐Rivera, Oriol, Ávila Polo, Rainiero, Llorens, Franc, Zerr, Inga, Ferrer, Isidre, Nos, Carlos, Parchi, Piero, Sánchez‐Valle, Raquel, Gelpí, Ellen
• Format: Journal Article
• Language: English
• Published: United States John Wiley & Sons, Inc 01-10-2018; American Neurological Association; John Wiley and Sons Inc
• Subjects: Amyotrophic lateral sclerosis; Brief Communication; Enzims proteolítics; Esclerosi lateral amiotròfica; Pathology; Patologia; Proteolytic enzymes
• ISSN: 2328-9503; 2328-9503
• DOI: 10.1002/acn3.632

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.