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Phenotypic correlations in FTDP-17.

L A Reed1, Z K Wszolek, M Hutton

  • 1Dept. of Lab. Med. and Pathology, Univ. of Minnesota, Minneapolis, MN 55455, USA. reedx058@tc.umn.edu

Neurobiology of Aging
|February 13, 2001
PubMed
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Frontotemporal dementias with parkinsonism linked to chromosome 17 (FTDP-17) are hereditary tauopathies. Mutations in tau gene exons or splice sites cause distinct neurofibrillary tangles and varied clinical presentations.

Area of Science:

  • Neuroscience
  • Genetics
  • Pathology

Background:

  • Frontotemporal dementias with parkinsonism linked to chromosome 17 (FTDP-17) represent a group of hereditary tauopathies.
  • These conditions affect numerous families globally, presenting with diverse clinical manifestations.

Purpose of the Study:

  • To investigate the molecular mechanisms underlying FTDP-17.
  • To correlate specific genetic mutations with distinct pathological tau inclusions and clinical phenotypes.

Main Methods:

  • Analysis of mutations within tau gene exons (9, 10, 12, 13) and splice sites.
  • Examination of tau isoforms incorporated into neurofibrillary tangles.
  • Correlation of genetic findings with clinicopathological presentations.

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Main Results:

  • Missense mutations in constitutively expressed exons affect all tau isoforms, leading to Alzheimer's disease-like tangles.
  • Mutations affecting alternatively spliced exon 10 or its splice region alter tau isoform ratios, producing tau inclusions similar to progressive supranuclear palsy and Pick's disease.

Conclusions:

  • Genetic mutations in FTDP-17 lead to diverse tauopathies through distinct molecular pathways.
  • The heterogeneity of FTDP-17 phenotypes is linked to variations in tau gene mutations and their impact on tau isoform processing.