Abstract
Two families with frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17) resulting from the microtubule associated protein tau (MAPT) gene IVS10+16C>T splice site mutation are reported, members of which showed variable clinical phenotypes at presentation. Possible explanations for the intra- and interfamilial clinical heterogeneity associated with this MAPT mutation are discussed.
MeSH terms
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Atrophy / genetics
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Atrophy / pathology
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Atrophy / physiopathology
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Base Sequence / genetics
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Brain / metabolism
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Brain / pathology
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Brain / physiopathology
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Brain Chemistry / genetics
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Cytosine / metabolism
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DNA / genetics
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DNA Mutational Analysis
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Disease Progression
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Frontal Lobe / metabolism
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Frontal Lobe / pathology
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Frontal Lobe / physiopathology
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Frontotemporal Dementia / genetics*
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Frontotemporal Dementia / metabolism
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Frontotemporal Dementia / physiopathology
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Genetic Markers / genetics
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Genetic Predisposition to Disease / genetics*
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Genetic Testing
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Genotype
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Humans
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Inheritance Patterns / genetics
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Magnetic Resonance Imaging
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Male
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Middle Aged
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Phenotype
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Point Mutation / genetics*
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RNA Splice Sites / genetics*
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Thymine / metabolism
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tau Proteins / genetics*
Substances
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Genetic Markers
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RNA Splice Sites
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tau Proteins
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Cytosine
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DNA
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Thymine