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The genetics and neuropathology of frontotemporal lobar degeneration
Open accessAbstract
Frontotemporal lobar degeneration (FTLD) is a heterogeneous group of disorders characterized by disturbances of behavior and personality and different types of language impairment with or without concomitant features of motor neuron disease or parkinsonism. FTLD is characterized by atrophy of the frontal and anterior temporal brain lobes. Detailed neuropathological studies have elicited proteinopathies defined by inclusions of hyperphosphorylated microtubule-associated protein tau, TAR DNA-binding protein TDP-43, fused-in-sarcoma or yet unidentified proteins in affected brain regions. Rather than the type of proteinopathy, the site of neurodegeneration correlates relatively well with the clinical presentation of FTLD. Molecular genetic studies identified five disease genes, of which the gene encoding the tau protein (MAPT), the growth factor precursor gene granulin (GRN), and C9orf72 with unknown function are most frequently mutated. Rare mutations were also identified in the genes encoding valosin-containing protein (VCP) and charged multivesicular body protein 2B (CHMP2B). These genes are good markers to distinguish underlying neuropathological phenotypes. Due to the complex landscape of FTLD diseases, combined characterization of clinical, imaging, biological and genetic biomarkers is essential to establish a detailed diagnosis. Although major progress has been made in FTLD research in recent years, further studies are needed to completely map out and correlate the clinical, pathological and genetic entities, and to understand the underlying disease mechanisms. In this review, we summarize the current state of the rapidly progressing field of genetic, neuropathological and clinical research of this intriguing condition.
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“bvFTD is most often caused by frontotemporal lobar degeneration (FTLD) proteinopathies, namely tauopathies (of which microtubule-associated protein tau (MAPT) gene mutations are the most common genetic causes), TDP-43 proteinopathies (of which chromosome 9 open reading frame 72 (C9orf72) and progranulin (GRN) gene mutations, in order of frequency, are most common), and less frequently, fused in s”
From Diagnosing the frontal variant of Alzheimer’s disease: a clinician’s yellow brick road (2017) · cites this paper as [19]
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Metadata
- Authors
- Sieben, A., Van Langenhove, T., Engelborghs, S., Martin, J.-J., Boon, P., Cras, P., De Deyn, P.-P., Santens, P., Van Broeckhoven, C., & Cruts, M.
- Affiliations
- University of Antwerp (BE)
- Ghent University Hospital (BE)
- Corresponding author
- Cruts, Marc
- ORCID
- Venue
- Acta Neuropathologica
- Published
- 2012-08-14
- Volume
- 124
- Issue
- 3
- Pages
- 353-372
- ISSN
- 0001-6322 (ISSN-L)
- 1432-0533
- PMC
- PMC3422616
- OpenAlex
- W2167243829
- Cited by
- 280
- References
- 186
- Citations by year
- 2026: 7 · 2025: 10 · 2024: 2 · 2023: 20 · 2022: 20 · 2021: 16 · 2020: 11 · 2019: 20 · 2018: 21 · 2017: 21 · 2016: 33 · 2015: 32 · 2014: 33 · 2013: 30 · 2012: 3
- FWCI
- 4.40
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- cc-by
- Locations
- Acta Neuropathologica (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Ghent University Academic Bibliography (Ghent University) (submittedVersion, other-oa)
- University of Groningen research database (University of Groningen / Centre for Information Technology) (submittedVersion)
- VUBIR (Vrije Universiteit Brussel) (submittedVersion)
- Funders
- Belgian Federal Science Policy Office (P7/16)
- Fonds Wetenschappelijk Onderzoek
- Universiteit Antwerpen
- Vlaamse regering
- Instituut Born-Bunge
- Fondation Médicale Reine Elisabeth
- Bijzonder Onderzoeksfonds UGent
- Topics
- Health Sciences › Medicine › Clinical Neurology › Amyotrophic Lateral Sclerosis Research
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Alzheimer's disease research and treatments
- Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
- Keywords
- frontotemporal lobar degeneration, TDP-43, C9orf72, gene regulatory networks, MAPT, VCP, CHMP2B, proteinopathies, neurodegeneration, language impairment, motor neuron disease, parkinsonism, genetic biomarkers, disease heterogeneity
- MeSH terms
- Atrophy, Frontal Lobe, Humans, Mutation, tau Proteins, Genetic Predisposition to Disease, Frontotemporal Lobar Degeneration
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