Intrafamilial clinical phenotypic heterogeneity with MAPT gene splice site IVS10+16C>T mutation

J Neurol Sci. 2009 Dec 15;287(1-2):253-6. doi: 10.1016/j.jns.2009.08.063. Epub 2009 Sep 18.

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.

Publication types

  • Case Reports

MeSH terms

  • Atrophy / genetics
  • Atrophy / pathology
  • Atrophy / physiopathology
  • Base Sequence / genetics
  • Brain / metabolism
  • Brain / pathology
  • Brain / physiopathology
  • Brain Chemistry / genetics
  • Cytosine / metabolism
  • DNA / genetics
  • DNA Mutational Analysis
  • Disease Progression
  • Frontal Lobe / metabolism
  • Frontal Lobe / pathology
  • Frontal Lobe / physiopathology
  • Frontotemporal Dementia / genetics*
  • Frontotemporal Dementia / metabolism
  • Frontotemporal Dementia / physiopathology
  • Genetic Markers / genetics
  • Genetic Predisposition to Disease / genetics*
  • Genetic Testing
  • Genotype
  • Humans
  • Inheritance Patterns / genetics
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Phenotype
  • Point Mutation / genetics*
  • RNA Splice Sites / genetics*
  • Thymine / metabolism
  • tau Proteins / genetics*

Substances

  • Genetic Markers
  • RNA Splice Sites
  • tau Proteins
  • Cytosine
  • DNA
  • Thymine