MAPT gene duplications are not a cause of frontotemporal lobar degeneration
Section snippets
Acknowledgments
The authors wish to thank the patients and their families for their generosity and the collaboration from the University of Barcelona/Hospital Clínic Brain Bank. We also thank Ivon Cuscó for her technical help and Irene Madrigal and Montserrat Milà (Biochemistry and Molecular Genetics Department, Hospital Clínic, Barcelona) for providing MLPA probes. This work was supported by grants from the Spanish Ministry of Health (PI042016), Genome Spain and research grant from Pfizer-Eisai.
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A comprehensive screening of copy number variability in dementia with Lewy bodies
2019, Neurobiology of AgingCitation Excerpt :MAPT was not found to be significantly associated with DLB in recent GWAS (Bras et al., 2014; Guerreiro et al., 2018), but the MAPT H1 haplotype was previously described as a possible risk factor for DLB (Cervera-Carles et al., 2016; Labbé et al., 2016) and is a well-known genetic risk factor for PD. Previous studies of small cohorts of FTD patients have not revealed causative MAPT duplications (Lladó et al., 2007; Skoglund et al., 2009) but the screening of French FTD patients including multiplex families led to the identification of a heterozygous partial deletion of MAPT (Rovelet-Lecrux et al., 2009) and a 17q21.31 microduplication in an atypical FTD case (Rovelet-Lecrux et al., 2010). More recently, MAPT duplications were shown to increase expression of MAPT mRNA and were found to cause tangle pathology without Aβ deposition in probable AD patients (Le Guennec et al., 2017).
Psychiatric Symptoms in Frontotemporal Dementia: Epidemiology, Phenotypes, and Differential Diagnosis
2015, Biological PsychiatryCitation Excerpt :Grisart et al. (43) described a microduplication on chromosome 17g21.31 that was associated with behavioral problems and skills impairment. Subsequent studies failed to identify abnormal copy number variations at the genetic region encompassing MAPT (44). However, in 2009, a heterozygous deletion responsible for the removal of exons 6–9 of MAPT in one patient with FTD was described (45).
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