Familial early onset frontotemporal dementia caused by a novel S356T MAPT mutation,initially diagnosed as schizophrenia |
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| Authors: | Parastoo Momeni Mirdhu M. Wickremaratchi Jason Bell Richard Arnold Roger Beer John Hardy Tamas Revesz James W. Neal Huw R. Morris |
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| Affiliation: | 1. Texas Tech University Health Sciences Center, Department of Internal Medicine, Laboratory of Neurogenetics, Lubbock, TX 79430, USA;2. Department of Neurology, School of Medicine, Cardiff University, Cardiff CF14 4XN, UK;3. Laboratory of Neurogenetics, National Institute on Aging, NIH, Bethesda, MD 20892-3707, USA;4. Ty Siriol CMHT, 49 St Martins Rd, Caerphilly CF83 1EG, UK;5. Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK;6. Neuropathology, Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK;g Department of Neurolopathology, School of Medicine, Cardiff University, Cardiff CF14 4XN, UK;h MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University School of Medicine, UK |
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| Abstract: | Autosomal dominant frontotemporal dementia (FTD) due to mutations in the MAPT gene is referred to as FTD with parkinsonism linked to chromosome 17 with tau pathology (FTDP-17T). Typically the disease begins in the sixth decade of life. We report a novel exon 12 mutation in MAPT (S356T), in a family with an exceptionally early age at onset (27 and 29 years), causing familial behavioural variant frontotemporal dementia. Both the proband and the proband's father were initially diagnosed as having schizophrenia. Pathological examination showed frontotemporal lobar degeneration with extensive neuronal and glial tau deposition. This mutation is one of a small group of MAPT mutations (including P301S, G335V and S352L) that cause very early onset FTDP-17T. It is likely that the early age at onset reflects a marked pathogenic effect of the mutation involving a disturbance of microtubule binding, tau phosphorylation or a major acceleration of tau aggregation. |
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| Keywords: | Tau MAPT Frontotemporal dementia Early onset dementia |
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