Psychometric evidence for assessing early childhood development in Brazil: the Child Development Diagnostic Form in the Criança Feliz Program.

Frontotemporal dementia (FTD) is a neurodegenerative condition characterized by heterogeneous clinical presentations, such as behavioural variant (bvFTD), semantic dementia and non-fluent variant of primary progressive aphasia (nfvFTD), as well as heterogeneous neuropathological substrates due to depositions of different misfolded proteins. Familial history is present in 30%−50% of FTD cases, and autosomal dominant transmission pattern can reach 27% frequency [], underlining the relevance of genetic basis of these disorders. The major causative genes are microtubule-associated protein tau (), progranulin () and genes, while other genes account for a smaller number of cases []. Progranulin is a growth factor involved in inflammation, wound healing and cancer [], which has been recognized as having a neurotrophic and neuroprotective function in central nervous system: in fact, heterozygous loss of function mutations in give rise to FTD due to protein haploinsufficiency []. Low plasma progranulin dosage almost invariably suggests the presence of a loss of function mutation []. Most pathogenic mutations are small deletions or insertions, splicing or nonsense mutations, which lead to the introduction of a STOP codon which in turn activates the nonsense–mediated decay system degrading the mutated mRNA and causing progranulin deficiency. gross deletions have been reported only in a few cases: deletions encompassing a full exon or part of it []; nearly all exons [, ] and entire gene []. Deletions involving 5’-untranslated regions (5’-UTR) and intron 1 have also been reported [].