Carol Dobson-Stone et al.
Acta neuropathologica, 125(4), 523-533 (2013-01-23)
Numerous families exhibiting both frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) have been described, and although many of these have been shown to harbour a repeat expansion in C9ORF72, several C9ORF72-negative FTD-ALS families remain. We performed neuropathological and genetic...
Very early-onset frontotemporal dementia with no family history predicts underlying fused in sarcoma pathology.
Clement T Loy et al.
Brain : a journal of neurology, 133(Pt 12), e158-e158 (2010-08-10)
Hazel Urwin et al.
Acta neuropathologica, 120(1), 33-41 (2010-05-22)
Through an international consortium, we have collected 37 tau- and TAR DNA-binding protein 43 (TDP-43)-negative frontotemporal lobar degeneration (FTLD) cases, and present here the first comprehensive analysis of these cases in terms of neuropathology, genetics, demographics and clinical data. 92%...
Liuqing Yang et al.
Proceedings of the National Academy of Sciences of the United States of America, 111(50), 17809-17814 (2014-12-03)
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease. Fused in sarcoma (FUS) is a DNA/RNA binding protein and mutations in FUS cause a subset of familial ALS. Most ALS mutations are clustered in the C-terminal nuclear localization sequence of...
Ito Kawakami et al.
Acta neuropathologica communications, 4, 36-36 (2016-04-06)
Choreoathetoid involuntary movements are rarely reported in patients with frontotemporal lobar degeneration (FTLD), suggesting their exclusion as a supportive feature in clinical diagnostic criteria for FTLD. Here, we identified three cases of the behavioral variant of frontotemporal dementia (bvFTD) that...