Clinical and Genetic Study of the First Japanese FTDP-17 Patient with a Mutation of +3 in Intron 10 in the MAPT Gene

Intern Med. 2019 Aug 15;58(16):2397-2400. doi: 10.2169/internalmedicine.2761-19. Epub 2019 Apr 17.

Abstract

Frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17) with mutations in the MAPT gene is a hereditary neurodegenerative tauopathy with various clinical phenotypes. We herein report the first Japanese patient with FTDP-17 caused by an IVS10+3G>A mutation in the MAPT gene, which is linked to an H1M haplotype. The present study suggests that the IVS10+3G>A mutation in the MAPT gene can have originated from a non-Caucasian population. In the disease course, myoclonus and respiratory failure can be observed. This study may expand on the clinical and genetic findings for FTDP-17 with mutations in the MAPT gene.

Keywords: FTDP-17; H1M haplotype; IVS10+3G>A mutation; MAPT; non-Caucasian.

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Chromosomes, Human, Pair 17
  • Family*
  • Female
  • Frontotemporal Dementia / genetics*
  • Genetic Predisposition to Disease*
  • Humans
  • Japan
  • Male
  • Middle Aged
  • Mutation*
  • Parkinsonian Disorders / genetics*
  • Phenotype*
  • tau Proteins / genetics*

Substances

  • MAPT protein, human
  • tau Proteins