MAPT mutation associated with frontotemporal dementia and parkinsonism (FTDP-17)

Int Psychogeriatr. 2017 May;29(5):869-871. doi: 10.1017/S1041610216002192. Epub 2016 Dec 1.

Abstract

We present a 56-year-old patient suffering from frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17). The history included a three-generation pedigree and the patient was found to be a mutation carrier. The diagnosis was hindered by late appearance of the hypokinetic movement disorder. For clinicians, it is important to consider rare neurodegenerative disease variants in early-onset familial dementia syndromes with behavioral, cognitive, and motor symptoms.

Keywords: Parkinson's disease; dementia; frontotemporal dementia; genetics.

Publication types

  • Case Reports

MeSH terms

  • Chromosomes, Human, Pair 17 / genetics*
  • Female
  • Frontotemporal Dementia / genetics*
  • Humans
  • Middle Aged
  • Mutation
  • Pedigree
  • tau Proteins / genetics*

Substances

  • MAPT protein, human
  • tau Proteins