Variably protease-sensitive prionopathy presenting within ALS/FTD spectrum
Ávila Polo, Rainiero
MetadataShow full item record
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.
Is part ofAnnals of Clinical and Translational Neurology, 2018, vol. 5, núm. 10, p. 1297-1302
European research projects
The following license files are associated with this item: