Phenotypic Heterogeneity of Monogenic Frontotemporal Dementia.
作者： Alberto Benussi , Alessandro Padovani , Barbara Borroni
关键词:
摘要: Frontotemporal dementia (FTD) is a genetically and pathologically heterogeneous disorder characterized by personality changes, language impairment, deficits of executive functions associated with frontal temporal lobe degeneration. Different phenotypes have been defined on the basis presenting clinical symptoms, i.e., behavioral variant FTD, agrammatic primary progressive aphasia, semantic PPA. Some patients an movement disorder, either parkinsonism, as in supranuclear palsy corticobasal syndrome, or motor neuron disease (FTD-MND). A family history found 40% cases FTD about 10% clear autosomal-dominant inheritance. Genetic studies identified several genes monogenic FTD: microtubule-associated protein tau, progranulin, TAR DNA-binding 43, valosin-containing protein, charged multivesicular body 2B, fused sarcoma, hexanucleotide repeat expansion intron 1 chromosome 9 open reading frame 72. Patients often present extensive phenotypic variability, even among different members same kindred carrying identical mutation. The objective work to review evaluate available literature data order highlight recent advances clinical, biological, neuroimaging features frontotemporal lobar degeneration try identify mechanisms underlying extreme heterogeneity that characterizes this disease.
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