Abstract
Frontotemporal lobar degeneration (FTLD), the most frequent neurodegenerative disorder with a presenile onset, presents with a spectrum of clinical manifestations, ranging from behavioral and executive impairment to language disorders and motor dysfunction. Familial aggregation is frequently reported, and about 10% of cases have an autosomal dominant transmission. Microtubule associated protein tau (MAPT) gene mutations have been the first ones identified and are associated with early onset behavioral variant frontotemporal dementia phenotype. More recently, progranulin gene (GRN) mutations were recognized in association with familial form of FTLD. In addition, other genes are linked to rare cases of familial FTLD. Lastly, a number of genetic risk factors for sporadic forms have also been identified. In this review, current knowledge about mutations at the basis of familial FTLD will be described, together with genetic risk factors influencing the susceptibility to FTLD.
Highlights
NEW DIAGNOSTIC CRITERIA OF FRONTOTEMPORAL LOBAR DEGENERATION Frontotemporal lobar degeneration (FTLD) represents a common cause of dementia in subjects under 65 years
It is associated with frontal and temporal lobe atrophy, involving the right and left hemispheres, in some cases asymmetrically (Rosen et al, 2006). It can be classified into two main cognitive syndromes (Neary et al, 1998): behavioral variant frontotemporal dementia and primary progressive aphasia (PPA), whose diagnostic criteria have been recently revised including neuroimaging and genetics (Gorno-Tempini et al, 2011; Rascovsky et al, 2011)
Genes demonstrated to be responsible for familial FTLD include: microtubule associated protein tau (MAPT ) gene, progranulin (GRN ), valosin-containing protein (VCP)-1, chromatinmodifying 2B (CHMP2B), TAR-DNA binding protein 43 encoding gene (TARBDP), and, very recently, a novel hexanucleotide expansion in chromosome 9 (Dejesus-Hernandez et al, 2011; Renton et al, 2011)
Summary
NEW DIAGNOSTIC CRITERIA OF FRONTOTEMPORAL LOBAR DEGENERATION Frontotemporal lobar degeneration (FTLD) represents a common cause of dementia in subjects under 65 years. Microtubule associated protein tau (MAPT ) gene mutations have been the first ones identified and are associated with early onset behavioral variant frontotemporal dementia phenotype.
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