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Distinct genetic forms of frontotemporal dementia
Abstract
Background Frontotemporal dementia (FTD) is the second most common type of presenile dementia and can be distinguished into various clinical variants. The identification of MAPT and GRN defects and the discovery of the TDP-43 protein in FTD have led to the classification of pathologic and genetic subtypes. In addition to these genetic subtypes, there exist familial forms of FTD with unknown genetic defects. Methods We investigated the frequency, demographic, and clinical data of patients with FTD with a positive family history in our prospective cohort of 364 patients. Genetic analysis of genes associated with FTD was performed on all patients with a positive family history. Immunohistochemical studies were carried out with a panel of antibodies (tau, ubiquitin, TDP-43) in brains collected at autopsy. Results In the total cohort of 364 patients, 27% had a positive family history suggestive for an autosomal mode of inheritance, including MAPT (11%) and GRN (6%) mutations. We identified a new Gln300X GRN mutation in a patient with a sporadic FTD. The mean age at onset in GRN patients (61.8 +/- 9.9 years) was higher than MAPT patients (52.4 +/- 5.9 years). In the remaining 10% of patients with suggestive autosomal dominant inheritance, the genetic defect has yet to be identified. Neuropathologically, this group can be distinguished into familial FTLD+MND and familial FTLD-U with hippocampal sclerosis. Conclusion Future genetic studies need to identify genetic defects in at least…
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“This was a sign of repetitive/stereotypical behavior, which is one of the clinical features of FTD (Figure 6D).34”
From Human MAPT knockin mouse models of frontotemporal dementia for the neurodegenerative research community (2025) · cites this paper as [34]
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Metadata
- Authors
- Seelaar, H., Kamphorst, W., Rosso, S. M., Azmani, A., Masdjedi, R., de Koning, I., Maat-Kievit, J. A., Anar, B., Kaat, L. D., Breedveld, G. J., Dooijes, D., Rozemuller, J. M., Bronner, I. F., Rizzu, P., & van Swieten, J. C.
- Affiliations
- From the Departments of Neurology (H.S., S.M.R., A.A., R.M., L.D.K., J.C.v.S.), Neuropsychology (I.d.K.), and Clinical Genetics (J.A.M.-K., G.J.B., D.D.), Erasmus Medical Center, Rotterdam; and Department of Human Genetics (B.A., I.F.B., P.R.), Center for Neurogenomics and Cognitive Research (B.A., I.F.B., P.R.), and Neuropathology (W.K., J.M.R.), VU University Medical Center and VU University, Amsterdam.
- Venue
- Neurology
- Published
- 2008-10-14
- Volume
- 71
- Issue
- 16
- Pages
- 1220-1226
- ISSN
- 0028-3878
- 1526-632X
- Cited by
- 182
- References
- 6
- Language
- en
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