Expanding the Phenotype of Frontotemporal Lobar Degeneration With FUS-Positive Pathology (FTLD-FUS)
Abstract
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.
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Patients with underlying FTLD-FUS pathology often fulfill the diagnostic criteria of bvFTD.
“Patients with underlying FTLD‐FUS pathology often fulfill the diagnostic criteria of bvFTD.”
From New developments of biofluid‐based biomarkers for routine diagnosis and disease trajectories in frontotemporal dementia (2022) · cites this paper as [30]
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- Authors
- Chornenka, K., Hirsch-Reinshagen, V., Perez-Rosendahl, M., Feldman, H., Segal-Gidan, F., Vinters, H. V., & Mackenzie, I. R.
- Affiliations
- University of British Columbia (CA)
- Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, British Columbia , Canada
- University of California, Irvine Medical Center (US)
- University of California San Diego (US)
- Division of Neurology, Keck School of Medicine, University of Southern California , Los Angeles
- University of Alberta (CA)
- Corresponding author
- Mackenzie, Ian R
- ORCID
- Venue
- Journal of Neuropathology & Experimental Neurology
- Publisher
- Oxford University Press (OUP)
- Published
- 2020-06-01
- Volume
- 79
- Issue
- 7
- Pages
- 809-812
- ISSN
- 0022-3069 (ISSN-L)
- 1554-6578
- OpenAlex
- W3032620655
- Cited by
- 8
- References
- 15
- Citations by year
- 2025: 2 · 2024: 1 · 2022: 2 · 2021: 2 · 2020: 1
- FWCI
- 0.54
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- academic.oup.com/journals/pages/open_access/funder_policies/chorus/standard_publication_model (vor)
- Locations
- Journal of Neuropathology & Experimental Neurology (publishedVersion)
- PubMed (publishedVersion)
- eScholarship (California Digital Library) (submittedVersion)
- Funders
- Canadian Institutes of Health Research
- Department of Neurology and the Mary Easton Alzheimer Disease Research Center at University of California Los Angeles
- Topics
- Health Sciences › Medicine › Neurology › Amyotrophic Lateral Sclerosis Research
- Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
- Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
- Keywords
- frontotemporal dementia, phenotype expansion, age of onset, behavioral abnormalities, memory impairment, language impairment, antemortem diagnosis
- MeSH terms
- Aged, Brain, Female, Humans, Male, Phenotype, RNA-Binding Protein FUS, Frontotemporal Lobar Degeneration
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