TDP-43 pathology and functional deficits in wild-type and ALS/FTD mutant cyclin F mouse models.

ABSTRACT:

Aims

Amyotrophic lateral sclerosis (ALS) is characterised by a progressive loss of upper and lower motor neurons leading to muscle weakness and eventually death. Frontotemporal dementia (FTD) presents clinically with significant behavioural decline. Approximately 10% of cases have a known family history, and disease-linked mutations in multiple genes have been identified in FTD and ALS. More recently, ALS and FTD-linked variants have been identified in the CCNF gene, which accounts for an estimated 0.6% to over 3% of familial ALS cases.

Methods

In this study, we developed the first mouse models expressing either wild-type (WT) human CCNF or its mutant pathogenic variant S621G to recapitulate key clinical and neuropathological features of ALS and FTD linked to CCNF disease va

SUBMITTER: van Hummel A 

PROVIDER: S-EPMC10946706 | biostudies-literature | 2023 Apr

REPOSITORIES: biostudies-literature