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Si us plau utilitzeu sempre aquest identificador per citar o enllaçar aquest document: https://hdl.handle.net/2445/139916
Variably protease-sensitive prionopathy presenting within ALS/FTD spectrum
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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.
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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: 30 of May of 2026]. Available at: https://hdl.handle.net/2445/139916