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Few FUS mutations have been identified in patients with an FTLD or FTLD-ALS phenotype.
In order to allow comparison of FTLD-FUS to other FTLD cases, we focussed on one subtype of FTLD-FUS (aFTLD-U), as it is possible that FTLD-FUS comprises a clinically heterogeneous group.
Xi, Z. et al. The C9orf72 repeat expansion itself is methylated in ALS and FTLD patients.
Moreover, mutations in TDP-43 and FUS are linked to ALS and FTLD.
Behavioural variant frontotemporal dementia (bvFTD) is the most frequent clinical presentation of FTLD.
These data suggest that oculomotor assessment may aid in the diagnosis of FTLD and related disorders.
Similar(16)
Moreover, extracts from FTLD-TDP-GRN cases showed significantly higher seeding activity than sporadic FTLD-TDP cases (Fig. 1e), while there were no significant differences between FTLD-TDP-C9+ FTLD-TDP-C9+ FTLD-TDP-C9+FTLD-TDP-GRN.
Pathological TDP-43 from both sporadic and familial FTLD-TDP cases showed higher seeding activity than controls with exception of two sporadic FTLD-TDP cases (Fig. 1e).
In FTLD-TDP brains, CTFs are a major component of cytoplasmic TDP-43 pathology38.
The second group ("FTLD-U HS") included 10 cases of HS associated to FTLD-U.
The screening for seeding activity of brain-derived pathological TDP-43 showed that FTLD-TDP-GRN lysates have the highest activity followed by FTLD-TDP-C9+ and sporadic FTLD-TDP cases.
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