title: Intrafamilial clinical phenotypic heterogeneity with MAPT gene splice site IVS10+16C>T mutation.
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.
authors.affiliation: Cognitive Function Clinic, Walton Centre for Neurology and Neurosurgery, Lower Lane, Fazakerley, Liverpool L9 7LJ, United Kingdom. a.larner@thewaltoncentre.nhs.uk
authors.forename: A J
authors.initials: AJ
authors.lastname: Larner
mesh_terms: D001284:Atrophy / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D001483:Base Sequence / Q000235:genetics; D001921:Brain / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D001923:Brain Chemistry / Q000235:genetics; D003596:Cytosine / Q000378:metabolism; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D018450:Disease Progression; D005625:Frontal Lobe / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D057180:Frontotemporal Dementia / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D040582:Inheritance Patterns / Q000235:genetics; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D017354:Point Mutation / Q000235:genetics*; D022821:RNA Splice Sites / Q000235:genetics*; D013941:Thymine / Q000378:metabolism; D016875:tau Proteins / Q000235:genetics*
chemical_list: D005819:Genetic Markers; D022821:RNA Splice Sites; D016875:tau Proteins; D003596:Cytosine; D004247:DNA; D013941:Thymine