Variably protease‐sensitive prionopathy presenting within ALS/FTD spectrum

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 ca...

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Bibliographic Details
Published in:Annals of clinical and translational neurology 2018-10, Vol.5 (10), p.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: Article
Language:English
Subjects:
Amyotrophic lateral sclerosis
Brief Communication
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‐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.
ISSN:2328-9503
2328-9503
DOI:10.1002/acn3.632