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Young-onset frontotemporal dementia with FUS pathology
Frontotemporal dementia (FTD) is an uncommon cause of behavioural change in adults under the age of 50. A 44-year-old man presented with progressive neuropsychiatric disturbance characterised by social withdrawal, apathy, loss of empathy, motor stereotypies and hyperorality. Cognitive testing identi...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BMJ Publishing Group
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7982927/ https://www.ncbi.nlm.nih.gov/pubmed/33310885 http://dx.doi.org/10.1136/practneurol-2020-002730 |
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author | Gowell, Matthew Baker, Ian Ansorge, Olaf Husain, Masud |
author_facet | Gowell, Matthew Baker, Ian Ansorge, Olaf Husain, Masud |
author_sort | Gowell, Matthew |
collection | PubMed |
description | Frontotemporal dementia (FTD) is an uncommon cause of behavioural change in adults under the age of 50. A 44-year-old man presented with progressive neuropsychiatric disturbance characterised by social withdrawal, apathy, loss of empathy, motor stereotypies and hyperorality. Cognitive testing identified severe impairment, including executive dysfunction. MR scan of the brain showed bilateral symmetrical frontal atrophy. There was no relevant family history, and targeted genetic testing for FTD-associated variants in MAPT, GRN and C9orf72 genes proved negative. He became more withdrawn with disinhibited behaviour; his condition progressively worsened and he died 6 years later. The pathological diagnosis was frontotemporal lobar degeneration with fused-in-sarcoma (FUS) pathology, a rare sporadic cause of FTD, accounting for only 5%–10% of cases, its characteristic features including very young onset, motor stereotypies and hyperorality. |
format | Online Article Text |
id | pubmed-7982927 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | BMJ Publishing Group |
record_format | MEDLINE/PubMed |
spelling | pubmed-79829272021-03-30 Young-onset frontotemporal dementia with FUS pathology Gowell, Matthew Baker, Ian Ansorge, Olaf Husain, Masud Pract Neurol Neurological Rarities Frontotemporal dementia (FTD) is an uncommon cause of behavioural change in adults under the age of 50. A 44-year-old man presented with progressive neuropsychiatric disturbance characterised by social withdrawal, apathy, loss of empathy, motor stereotypies and hyperorality. Cognitive testing identified severe impairment, including executive dysfunction. MR scan of the brain showed bilateral symmetrical frontal atrophy. There was no relevant family history, and targeted genetic testing for FTD-associated variants in MAPT, GRN and C9orf72 genes proved negative. He became more withdrawn with disinhibited behaviour; his condition progressively worsened and he died 6 years later. The pathological diagnosis was frontotemporal lobar degeneration with fused-in-sarcoma (FUS) pathology, a rare sporadic cause of FTD, accounting for only 5%–10% of cases, its characteristic features including very young onset, motor stereotypies and hyperorality. BMJ Publishing Group 2021-04 2020-12-11 /pmc/articles/PMC7982927/ /pubmed/33310885 http://dx.doi.org/10.1136/practneurol-2020-002730 Text en © Author(s) (or their employer(s)) 2021. Re-use permitted under CC BY. Published by BMJ. https://creativecommons.org/licenses/by/4.0/ https://creativecommons.org/licenses/by/4.0/This is an open access article distributed in accordance with the Creative Commons Attribution 4.0 Unported (CC BY 4.0) license, which permits others to copy, redistribute, remix, transform and build upon this work for any purpose, provided the original work is properly cited, a link to the licence is given, and indication of whether changes were made. See: https://creativecommons.org/licenses/by/4.0/. |
spellingShingle | Neurological Rarities Gowell, Matthew Baker, Ian Ansorge, Olaf Husain, Masud Young-onset frontotemporal dementia with FUS pathology |
title | Young-onset frontotemporal dementia with FUS pathology |
title_full | Young-onset frontotemporal dementia with FUS pathology |
title_fullStr | Young-onset frontotemporal dementia with FUS pathology |
title_full_unstemmed | Young-onset frontotemporal dementia with FUS pathology |
title_short | Young-onset frontotemporal dementia with FUS pathology |
title_sort | young-onset frontotemporal dementia with fus pathology |
topic | Neurological Rarities |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7982927/ https://www.ncbi.nlm.nih.gov/pubmed/33310885 http://dx.doi.org/10.1136/practneurol-2020-002730 |
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