title: Frontotemporal Lobar Degeneration.
abstract: Frontotemporal Lobar Degeneration (FTLD) is an heterogeneous neurodegenerative disorder characterized by behaviour and language disturbances, associated with degeneration of the frontal and temporal lobes. Three different clinical presentations have been described, namely behavioural variant Frontotemporal Dementia (bvFTD), Semantic Dementia (SD) and Progressive Non-Fluent Aphasia (PNFA). The associated histopathology includes different neuropathological hallmarks, the most frequent being tau-positive inclusions (FTLD-TAU) or tau-negative and TDP-43 positive inclusions (FTLD-TDP). The majority of familial FTLD cases are caused by mutations within Microtubule-Associated Protein Tau (MAPT) gene, leading to FTLD-TAU, or Progranulin (PGRN) gene, leading to FTLD-TDP. In the last few years, imaging, biological and genetic biomarkers have been developed, helping in clinical evaluation and diagnostic accuracy. Though current pharmacologic interventions are only symptomatic, recent research argues for possible disease-modifying strategies in the near future.
authors.affiliation: Centre for Ageing Brain and Neurodegenerative Disorders, University of Brescia, Brescia, Italy.
authors.forename: Enrico
authors.initials: E
authors.lastname: Premi
authors.forename: Alessandro
authors.initials: A
authors.lastname: Padovani
authors.forename: Barbara
authors.initials: B
authors.lastname: Borroni
mesh_terms: D015415:Biomarkers; D001921:Brain / Q000473:pathology*; D004268:DNA-Binding Proteins / Q000235:genetics; D057174:Frontotemporal Lobar Degeneration / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics*; D005823:Genetics; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins / Q000235:genetics; D009154:Mutation / Q000235:genetics*; D000077153:Progranulins; D025801:Ubiquitin / Q000378:metabolism; D016875:tau Proteins / Q000235:genetics
chemical_list: D015415:Biomarkers; D004268:DNA-Binding Proteins; C492314:GRN protein, human; D036341:Intercellular Signaling Peptides and Proteins; C054369:MAPT protein, human; D000077153:Progranulins; D025801:Ubiquitin; D016875:tau Proteins