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The genetics and neuropathology of frontotemporal lobar degeneration

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Sieben, Anne, Van Langenhove, Tim, Engelborghs, Sebastiaan, Martin, Jean-Jacques, Boon, Paul, Cras, Patrick, De Deyn, Peter-Paul, Santens, Patrick, Van Broeckhoven, Christine, Cruts, Marc·2012·Acta Neuropathologica

DOI 10.1007/s00401-012-1029-xPMC PMC3422616

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Abstract

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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Frontotemporal dementia progresses to death faster than Alzheimer disease
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Progranulin in frontotemporal lobar degeneration and neuroinflammation
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Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72
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Missense Mutations in the Progranulin Gene Linked to Frontotemporal Lobar Degeneration with Ubiquitin-immunoreactive Inclusions Reduce Progranulin Production and Secretion
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Membrane Orientation and Subcellular Localization of Transmembrane Protein 106B (TMEM106B), a Major Risk Factor for Frontotemporal Lobar Degeneration
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High-density SNP haplotyping suggests altered regulation of tau gene expression in progressive supranuclear palsy
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Analysis of FUS gene mutation in familial amyotrophic lateral sclerosis within an Italian cohort
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Progranulin genetic variability contributes to amyotrophic lateral sclerosis
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Progranulin is expressed within motor neurons and promotes neuronal cell survival
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VCP mutations in familial and sporadic amyotrophic lateral sclerosis
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A Reassessment of the Neuropathology of Frontotemporal Dementia Linked to Chromosome 3
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TDP-43 Proteinopathies: Neurodegenerative Protein Misfolding Diseases without Amyloidosis
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TMEM106B is associated with frontotemporal lobar degeneration in a clinically diagnosed patient cohort
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Mutations other than null mutations producing a pathogenic loss of progranulin in frontotemporal dementia
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An MND/ALS phenotype associated with C9orf72 repeat expansion: Abundant p62‐positive, TDP‐43‐negative inclusions in cerebral cortex, hippocampus and cerebellum but without associated cognitive decline
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Three Families With Amyotrophic Lateral Sclerosis and Frontotemporal Dementia With Evidence of Linkage to Chromosome 9p
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Risk genotypes at TMEM106B are associated with cognitive impairment in amyotrophic lateral sclerosis
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Chromosome 3 linked frontotemporal dementia (FTD-3)
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Clinical heterogeneity in 3 unrelated families linked to VCP p.Arg159His
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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: Sieben, Anne
Engelborghs, Sebastiaan
Martin, Jean-Jacques
Boon, Paul
Cras, Patrick
Santens, Patrick
Cruts, Marc
Venue: Acta Neuropathologica
Publisher: Springer Science and Business Media LLC
Published: 2012-08-14
Volume: 124
Issue: 3
Pages: 353-372
ISSN: 0001-6322 (ISSN-L)
1432-0533
DOI: 10.1007/s00401-012-1029-x
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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The genetics and neuropathology of frontotemporal lobar degeneration

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