Expanding the Phenotype of Frontotemporal Lobar Degeneration With FUS-Positive Pathology (FTLD-FUS)
| Autor: | Veronica Hirsch-Reinshagen, Freddi Segal-Gidan, Howard Feldman, Harry V. Vinters, Mari Perez-Rosendahl, Karina G. Chornenka, Ian R. A. Mackenzie |
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| Rok vydání: | 2020 |
| Předmět: |
Male
Pathology medicine.medical_specialty Pathology and Forensic Medicine 03 medical and health sciences Cellular and Molecular Neuroscience 0302 clinical medicine Aphasia medicine Humans Aged 030304 developmental biology 0303 health sciences business.industry Antemortem Diagnosis Brain General Medicine Frontotemporal lobar degeneration medicine.disease Phenotype Associated phenotype Neurology RNA-Binding Protein FUS Female Neurology (clinical) Sarcoma Frontotemporal Lobar Degeneration medicine.symptom Age of onset business 030217 neurology & neurosurgery Frontotemporal dementia |
| Zdroj: | Journal of Neuropathology & Experimental Neurology. 79:809-812 |
| ISSN: | 1554-6578 0022-3069 |
| DOI: | 10.1093/jnen/nlaa045 |
| Popis: | Atypical frontotemporal lobar degeneration with ubiquitin-positive inclusions (aFTLD-U) is an uncommon cause of frontotemporal dementia characterized by fused in sarcoma-positive inclusions. It is classified as a subtype of frontotemporal lobar degeneration with FUS pathology. Cases with aFTLD-U pathology typically display an early onset of symptoms and severe psychobehavioral changes in the absence of significant aphasia, cognitive-intellectual dysfunction or motor features. This phenotype is regarded as being sufficiently unusual and consistent as to allow antemortem diagnosis with a high degree of accuracy. In this report, we describe 2 cases with aFTLD-U pathology that broaden the associated phenotype to include later age of onset, milder behavioral abnormalities and early memory and language impairment. |
| Databáze: | OpenAIRE |
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