Open AccessVariably protease‐sensitive prionopathy presenting within ALS/FTD spectrum
Author(s) -
VicentePascual Mikel,
Rossi Marcello,
Gámez Josep,
Lladó Albert,
Valls Josep,
GrauRivera Oriol,
Ávila Polo Rainiero,
Llorens Franc,
Zerr Inga,
Ferrer Isidre,
Nos Carlos,
Parchi Piero,
SánchezValle Raquel,
Gelpí Ellen
Publication year - 2018
Publication title -
annals of clinical and translational neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.824
H-Index - 42
ISSN - 2328-9503
DOI - 10.1002/acn3.632
Subject(s) - amyotrophic lateral sclerosis , pathological , medicine , atrophy , pathology , frontotemporal dementia , western blot , disease , gene , dementia , biology , genetics
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.