Frontotemporal dementia: impact of P301L tau mutation on a healthy carrier
نویسندگان
چکیده
منابع مشابه
Frontotemporal dementia: impact of P301L tau mutation on a healthy carrier.
Frontotemporal dementia (FTD) is the second commonest form of dementia after Alzheimer's disease, but its clinical and biological features are less well known. To uncover its earliest signs, we studied the main clinical, neuroimaging, and biochemical findings in an asymptomatic carrier from a three generation FTD family, bearing the P301L pathogenic mutation in the tau gene. Except for selectiv...
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Microtubule-associated protein tau mutations result in 10-20% of cases of genetic frontotemporal lobar degeneration. Tau mutation carriers typically develop behavioral variant frontotemporal dementia with or without parkinsonism. Unlike most frontotemporal dementia gene mutations, heterozygous R406W tau mutation carriers most often develop clinical Alzheimer's disease. We report a homozygous ta...
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We investigated three separate families (designated D, F and G) with frontotemporal dementia that have the same molecular mutation in exon 10 of the tau gene (P301L). The families share many clinical characteristics, including behavioural aberrations, defective executive functions, language deficits, relatively preserved constructional abilities and frontotemporal atrophy on imaging studies. Ho...
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BACKGROUND Frontotemporal dementia (FTD) is a heterogeneous neurodegenerative disorder presenting clinically with personality change (behavioural variant FTD (bvFTD)) or language deficits (primary progressive aphasia (PPA)). About a third of FTD is familial with mutations in GRN, MAPT and C9orf72 being the major genetic causes. Robust biomarkers of the underlying pathology are still lacking in ...
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A number of neurodegenerative diseases are characterized by the presence of abundant deposits containing Tau protein. Expression of the human tau gene is under complex regulation. Mutations in the tau gene have been identified in patients with frontotemporal lobe dementia. These mutations affect either biochemical/biophysical properties or the delicate balance of different splicing isoforms. In...
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ژورنال
عنوان ژورنال: Journal of Neurology, Neurosurgery & Psychiatry
سال: 2004
ISSN: 0022-3050
DOI: 10.1136/jnnp.2003.021295