RT Journal Article
T1 Variably protease-sensitive prionopathy presenting within ALS/FTD spectrum.
A1 Vicente-Pascual, Mikel
A1 Rossi, Marcello
A1 Gámez, Josep
A1 Lladó, Albert
A1 Valls, Josep
A1 Grau-Rivera, Oriol
A1 Ávila Polo, Rainiero
A1 Llorens, Franc
A1 Zerr, Inga
A1 Ferrer, Isidre
A1 Nos, Carlos
A1 Parchi, Piero
A1 Sánchez-Valle, Raquel
A1 Gelpí, Ellen
AB 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.
SN 2328-9503
YR 2018
FD 2018-09-21
LK http://hdl.handle.net/10668/13121
UL http://hdl.handle.net/10668/13121
LA en
DS RISalud
RD Apr 10, 2025