title: Proteomics as an innovative tool to investigate frontotemporal disorders.
abstract: Neurodegenerative diseases are characterized by slow progressive loss of one or more functions of the CNS. Worldwide, the number of people affected by neurodegeneration is dramatically high and the social impact is upsetting. While being a heterogeneous group of diseases, most of these pathologies manifest similar clinical features and illness progression, thus making their diagnosis elusive. With its ability to meet the needs of neurodegenerative research, proteomics could help facilitate the diagnosis of these disorders. This strategy, recently emerged as complementary to genomics, has led in the last years to substantial achievements in deciphering molecular mechanisms and the follow-up of neurodegenerative diseases. Specifically, aim of this review is to cover the main proteomic investigations realized in the field of familial frontotemporal dementias. This disorder is less common than Alzheimer's disease and disproportionately affects younger individuals, thus representing a major psychological and economic burden for both patients and families. Although early and accurate differential diagnosis of frontotemporal dementias is crucial because of its implications for heritability, prognosis, therapeutics, and environmental management of patients, the investigative methods currently available to clinicians are incomplete. Certainly, the development of a focused therapy cannot be separated from the investigation of biochemical pathways involved in the pathogenesis.
authors.affiliation: Proteomics and Metabolomics Unit, Institute for Biomedical Technologies (ITB-CNR), Segrate (MI), Italy.|Department of Biology and Biotechnologies, Biochemistry Unit, University of Pavia, Pavia, Italy.|Doctorate School of Molecular and Translational Medicine, University of Milan, Segrate (MI), Italy.
authors.forename: Anna Maria
authors.initials: AM
authors.lastname: Agresta
authors.affiliation: Proteomics and Metabolomics Unit, Institute for Biomedical Technologies (ITB-CNR), Segrate (MI), Italy.
authors.forename: Antonella
authors.initials: A
authors.lastname: De Palma
authors.affiliation: Biochemistry Unit, Department of Molecular Medicine, University of Pavia, Pavia, Italy.
authors.forename: Anna
authors.initials: A
authors.lastname: Bardoni
authors.affiliation: Biochemistry Unit, Department of Molecular Medicine, University of Pavia, Pavia, Italy.
authors.forename: Roberta
authors.initials: R
authors.lastname: Salvini
authors.affiliation: Department of Biology and Biotechnologies, Biochemistry Unit, University of Pavia, Pavia, Italy.
authors.forename: Paolo
authors.initials: P
authors.lastname: Iadarola
authors.affiliation: Proteomics and Metabolomics Unit, Institute for Biomedical Technologies (ITB-CNR), Segrate (MI), Italy.
authors.forename: Pier Luigi
authors.initials: PL
authors.lastname: Mauri
mesh_terms: D000544:Alzheimer Disease / Q000097:blood / Q000134:cerebrospinal fluid / Q000175:diagnosis* / Q000473:pathology; D015415:Biomarkers / Q000097:blood / Q000134:cerebrospinal fluid; D002853:Chromatography, Liquid; D003937:Diagnosis, Differential; D018450:Disease Progression; D015180:Electrophoresis, Gel, Two-Dimensional; D005625:Frontal Lobe / Q000378:metabolism / Q000473:pathology; D057180:Frontotemporal Dementia / Q000097:blood / Q000134:cerebrospinal fluid / Q000175:diagnosis* / Q000473:pathology; D005786:Gene Expression Regulation; D006801:Humans; D009419:Nerve Tissue Proteins / Q000097:blood / Q000134:cerebrospinal fluid / Q000235:genetics*; D040901:Proteomics / Q000295:instrumentation / Q000379:methods*; D015398:Signal Transduction; D053719:Tandem Mass Spectrometry; D013702:Temporal Lobe / Q000378:metabolism / Q000473:pathology
chemical_list: D015415:Biomarkers; D009419:Nerve Tissue Proteins
keywords: Biomarkers; Familial neurodegeneration; Frontotemporal dementia; Proteomics