RT Journal Article
SR Electronic
T1 Young-onset frontotemporal dementia with FUS pathology
JF Practical Neurology
JO Pract Neurol
FD BMJ Publishing Group Ltd
SP 149
OP 152
DO 10.1136/practneurol-2020-002730
VO 21
IS 2
A1 Matthew Gowell
A1 Ian Baker
A1 Olaf Ansorge
A1 Masud Husain
YR 2021
UL http://pn.bmj.com/content/21/2/149.abstract
AB 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 He became more withdrawn with disinhibited behaviour; his condition progressively worsened and he died 6 years later.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.