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Amyotrophic lateral sclerosis is a rapidly progressing neurodegenerative disease characterized by loss of motor neurons resulting in muscle wasting and paralysis. Frontotemporal dementia and amyotrophic lateral sclerosis are considered to exist on a disease spectrum given substantial overlap of genetic and molecular signatures. The predominant genetic abnormality in both frontotemporal dementia and amyotrophic lateral sclerosis is an expanded hexanucleotide repeat sequence in the C9orf72 gene. In terms of brain pathology, abnormal aggregates of TAR-DNA-binding protein-43 are predominantly present in frontotemporal dementia and amyotrophic lateral sclerosis patients. Currently, sensitive and specific diagnostic and disease surveillance biomarkers are lacking for both diseases. This has impeded the capacity to monitor disease progression during life and the development of targeted drug therapies for the two diseases. The purpose of this review is to examine the status of current biofluid biomarker discovery and development in frontotemporal dementia and amyotrophic lateral sclerosis. The major pathogenic proteins implicated in different frontotemporal dementia and amyotrophic lateral sclerosis molecular subtypes and proteins associated with neurodegeneration and the immune system will be discussed. Furthermore, the use of mass spectrometry-based proteomics as an emerging tool to identify new biomarkers in frontotemporal dementia and amyotrophic lateral sclerosis will be summarized.<\/jats:p>","DOI":"10.1093\/brain\/awac077","type":"journal-article","created":{"date-parts":[[2022,2,23]],"date-time":"2022-02-23T07:37:13Z","timestamp":1645601833000},"page":"1598-1609","source":"Crossref","is-referenced-by-count":46,"title":["Biomarker discovery and development for frontotemporal dementia and amyotrophic lateral sclerosis"],"prefix":"10.1093","volume":"145","author":[{"given":"Jared S.","family":"Katzeff","sequence":"first","affiliation":[{"name":"Brain and Mind Centre, The University of Sydney , Sydney, NSW 2050, Australia"},{"name":"School of Medical Sciences, The University of Sydney , Sydney, NSW 2006, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fiona","family":"Bright","sequence":"additional","affiliation":[{"name":"School of Medical Sciences, The University of Sydney , Sydney, NSW 2006, Australia"},{"name":"Dementia Research Centre, Macquarie Medical School, Macquarie University , Sydney, NSW 2109, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katherine","family":"Phan","sequence":"additional","affiliation":[{"name":"Brain and Mind Centre, The University of Sydney , Sydney, NSW 2050, Australia"},{"name":"School of Medical Sciences, The University of Sydney , Sydney, NSW 2006, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jillian J.","family":"Kril","sequence":"additional","affiliation":[{"name":"School of Medical Sciences, The University of Sydney , Sydney, NSW 2006, Australia"},{"name":"Dementia Research Centre, Macquarie Medical School, Macquarie University , Sydney, NSW 2109, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6738-3825","authenticated-orcid":false,"given":"Lars 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C.","family":"Kiernan","sequence":"additional","affiliation":[{"name":"Brain and Mind Centre, The University of Sydney , Sydney, NSW 2050, Australia"},{"name":"Institute of Clinical Neurosciences, Royal Prince Alfred Hospital , Sydney, NSW 2050, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0422-8398","authenticated-orcid":false,"given":"Glenda M.","family":"Halliday","sequence":"additional","affiliation":[{"name":"Brain and Mind Centre, The University of Sydney , Sydney, NSW 2050, Australia"},{"name":"School of Medical Sciences, The University of Sydney , Sydney, NSW 2006, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4707-933X","authenticated-orcid":false,"given":"Woojin Scott","family":"Kim","sequence":"additional","affiliation":[{"name":"Brain and Mind Centre, The University of Sydney , Sydney, NSW 2050, Australia"},{"name":"School of Medical Sciences, The 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