Amb motiu del tancament d'estiu, la validació de documents es reprendrà a partir del 28 d'agost de 2026. Disculpeu les molèsties.
Con motivo del cierre de verano, la validación de documentos se reanudará a partir del 28 de agosto de 2026. Disculpad las molestias
Due to the summer closure, document validation will resume starting August 28, 2026. We apologize for any inconvenience.

Files

689423.pdf (523.3 KB)

Document type

Article

Version

Published version

Publication date

2018-09

Publication license

cc-by-nc-nd (c) Vicente-Pascual, Mikel et al., 2018
Please use this identifier to cite or link to this item: https://hdl.handle.net/2445/139916

Variably protease-sensitive prionopathy presenting within ALS/FTD spectrum

Journal Title

Authors

Director/Tutor

Journal ISSN

Volume Title

Related resource

https://doi.org/10.1002/acn3.632

Abstract

We report clinico-pathological features of a 65-year-old woman and a 56-yearold 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.

Subject

Enzims proteolítics, Patologia, Esclerosi lateral amiotròfica

Subject (English)

Proteolytic enzymes, Pathology, Amyotrophic lateral sclerosis

Citation

Collections

Articles publicats en revistes (Patologia i Terapèutica Experimental)
Articles publicats en revistes (IDIBAPS: Institut d'investigacions Biomèdiques August Pi i Sunyer)
Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))
Articles publicats en revistes (Medicina)

Citation

VICENTE-PASCUAL, Mikel, et al. Variably protease-sensitive prionopathy presenting within ALS/FTD spectrum. Annals of Clinical and Translational Neurology. 2018. Vol. 5, num. 10, pags. 1297-1302. ISSN 2328-9503. [consulted: 16 of August of 2026]. Available at: https://hdl.handle.net/2445/139916

Export metadata

JSON - METS

Share record