Article
Characterization of an FTLD-PDB family with the coexistence of SQSTM1 mutation and hexanucleotide (G₄C₂) repeat expansion in C9orf72 gene.
Neurobiology of aging - 1 Apr 2016
Almeida Maria Rosário, Letra Liliana, Pires Paula, Santos Ana, Rebelo Olinda, Guerreiro Rita, van der Zee Julie, Van Broeckhoven Christine, Santana Isabel
Abstract excerpt
The C9orf72 expansion is considered a major genetic cause of familial frontotemporal dementia (FTD) in several patients' cohorts. Interestingly, C9orf72 expansion carriers, present also abundant neuronal p62-positive inclusions. Although p62/SQSTM1 mutations were initially associated with Paget disease of bone (PDB), they have been also identified in FTD. We describe an FTD-PDB family in which the proband...
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