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Ann Clin Transl Neurol. 2018 Sep 21;5(10):1297-1302. doi: 10.1002/acn3.632. eCollection 2018 Oct.

Variably protease-sensitive prionopathy presenting within ALS/FTD spectrum.

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Department of Neurology Hospital Clínic de Barcelona Barcelona Spain.
Neurological Tissue Bank of the Biobanc-Hospital Clínic Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS) Barcelona Spain.
Department of Neurology Hospital Universitari Arnau de Vilanova Lérida Spain.
IRCCS Institute of Neurological Sciences Bellaria Hospital Bologna Italy.
Department of Neurology Hospital Vall d'Hebrón Barcelona Spain.
Department of Pathology Complejo Hospitalario Regional Virgen Del Rocío Sevilla Spain.
Department of Neurology University Medical Center Göttingen Germany.
CIBERNED (Network center for biomedical research of neurodegenerative diseases) Institute Carlos III, Ministry of Health Madrid Spain.
Institute of Neuropathology Hospital Universitari de Bellvitge (IDIBELL) Barcelona Spain.
General Subdirectorate of Surveillance and Response to Emergencies in Public Health Department of Public Health in Catalonia Barcelona Spain.
Department of Experimental, Diagnostic and Specialty Medicine (DIMES) University of Bologna Bologna Italy.
Institute of Neurology Medical University of Vienna Vienna Austria.


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.

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