| Date: |
2022 |
| Abstract: |
Frontotemporal dementia (FTD) is a heterogeneous clinical disorder characterized by progressive abnormalities in behavior, executive functions, personality, language and/or motricity. A neuropathological subtype of FTD, frontotem-poral lobar degeneration (FTLD)-FET, is characterized by protein aggregates consisting of the RNA-binding protein fused in sarcoma (FUS). The cause of FTLD-FET is not well understood and there is a lack of genetic evidence to aid in the investigation of mechanisms of the disease. The goal of this study was to identify genetic variants contributing to FTLD-FET and to investigate their efects on FUS pathology. We performed whole-exome sequencing on a 50-yearold FTLD patient with ubiquitin and FUS-positive neuronal inclusions and unafected parents, and identifed a de novo postzygotic nonsense variant in the NCDN gene encoding Neurochondrin (NCDN), NM_014284. 3:c. 1206G. |
| Rights: |
Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.  |
| Language: |
Anglès |
| Document: |
Article ; recerca ; Versió publicada |
| Subject: |
FUS (fused in sarcoma) ;
Frontotemporal dementia (FTD) ;
NCDN (neurochondrin) ;
Norbin ;
Genetic variant ;
De novo mutation ;
FTLD-FET ;
Neurodegeneration ;
Mglur1/5 ;
Cytoplasmic granules |
| Published in: |
Acta neuropathologica communications, Vol. 10 (february 2022) , ISSN 2051-5960 |
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