ArticleBMC neurology2008
Role of MAPT mutations and haplotype in frontotemporal lobar degeneration in Northern Finland.
Article in BMC neurology, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 3 of them syntheses that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
20 citing papers in PubMed, 3 syntheses or guidelines pooled it, 41 citations in OpenAlex.
- Apolipoprotein E Alleles Across the Spectrum of Frontotemporal Lobar Degeneration: A Systematic Review and Meta-Analysis.International journal of molecular sciences · 2026Pooled it
- Saitohin Q7R polymorphism is associated with late-onset Alzheimer's disease susceptibility among caucasian populations: a meta-analysis.Journal of cellular and molecular medicine · 2017Pooled it
- Meta-analysis of the association between variants in MAPT and neurodegenerative diseases.Oncotarget · 2017Pooled it
- Serum total TDP-43 levels are decreased in frontotemporal dementia patients with C9orf72 repeat expansion or concomitant motoneuron disease phenotype.Alzheimer's research & therapy · 2022Article
- Modifiable potential risk factors in familial and sporadic frontotemporal dementia.Annals of clinical and translational neurology · 2022Article
- Primary age-related tauopathy in a Finnish population-based study of the oldest old (Vantaa 85+).Neuropathology and applied neurobiology · 2022Article
- Tau and MAPT genetics in tauopathies and synucleinopathies.Parkinsonism & related disorders · 2021Review
- Serum neurofilament light chain in FTLD: association with C9orf72, clinical phenotype, and prognosis.Annals of clinical and translational neurology · 2020Article
- Peripheral inflammatory markers and clinical correlations in patients with frontotemporal lobar degeneration with and without the C9orf72 repeat expansion.Journal of neurology · 2020Article
- Clinical and Genetic Study of the First Japanese FTDP-17 Patient with a Mutation of +3 in Intron 10 in the MAPT Gene.Internal medicine (Tokyo, Japan) · 2019Article
- Tau and TDP-43 proteinopathies: kindred pathologic cascades and genetic pleiotropy.Laboratory investigation; a journal of technical methods and pathology · 2019Review
- Low Serum High-Density Lipoprotein Cholesterol Levels Associate with the C9orf72 Repeat Expansion in Frontotemporal Lobar Degeneration Patients.Journal of Alzheimer's disease : JAD · 2019Article
- The wide genetic landscape of clinical frontotemporal dementia: systematic combined sequencing of 121 consecutive subjects.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Article
- "New Old Pathologies": AD, PART, and Cerebral Age-Related TDP-43 With Sclerosis (CARTS).Journal of neuropathology and experimental neurology · 2016Review
- Phenotypic Heterogeneity of Monogenic Frontotemporal Dementia.Frontiers in aging neuroscience · 2015Review
- Microtubule-associated protein tau genetic variations are uncommon cause of frontotemporal dementia in south India.Neurobiology of aging · 2014Article
- Clinical Characteristics of C9ORF72-Linked Frontotemporal Lobar Degeneration.Dementia and geriatric cognitive disorders extra · 2013Article
- The non-fluent/agrammatic variant of primary progressive aphasia.The Lancet. Neurology · 2012Review
- Correlation of Alzheimer disease neuropathologic changes with cognitive status: a review of the literature.Journal of neuropathology and experimental neurology · 2012Review
- Epidemiology of Frontotemporal Lobar Degeneration in Northern Finland.Dementia and geriatric cognitive disorders extraArticle
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundFrontotemporal lobar degeneration (FTLD) consists of a clinically and neuropathologically heterogeneous group of syndromes affecting the frontal and temporal lobes of the brain. Mutations in microtubule-associated protein tau (MAPT), progranulin (PGRN) and charged multi-vesicular body protein 2B (CHMP2B) are associated with familial forms of the disease. The prevalence of these mutations varies between populations. The H1 haplotype of MAPT has been found to be closely associated with tauopathies and with sporadic FTLD. Our aim was to investigate MAPT mutations and haplotype frequencies in a clinical series of patients with FTLD in Northern Finland.
methodsMAPT exons 1, 2 and 9-13 were sequenced in 59 patients with FTLD, and MAPT haplotypes were analysed in these patients, 122 patients with early onset Alzheimer's disease (eoAD) and 198 healthy controls.
resultsNo pathogenic mutations were found. The H2 allele frequency was 11.0% (P = 0.028) in the FTLD patients, 9.8% (P = 0.029) in the eoAD patients and 5.3% in the controls. The H2 allele was especially clustered in patients with a positive family history (P = 0.011) but did not lower the age at onset of the disease. The ApoE4 allele frequency was significantly increased in the patients with eoAD and in those with FTLD.
conclusionWe conclude that although pathogenic MAPT mutations are rare in Northern Finland, the MAPT H2 allele may be associated with increased risks of FTLD and eoAD in the Finnish population.
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