Microtubule-associated protein tau genetic variations are uncommon cause offrontotemporal dementia in south India

P. M. Aswathy, P. S. Jairani, Joe Verghese, Srinivas Gopala, P. S. Mathuranath

Research output: Contribution to journalArticle

4 Scopus citations

Abstract

Microtubule-associated protein tau (MAPT) positive neuropathology is the characteristic feature of majority of frontotemporal dementia (FTD) cases, which is due to the mutations or haplotypic variations in the gene encoding MAPT ( MAPT). The present study was aimed at determining the frequency of genetic variations in MAPT in a south Indian FTD cohort. The frequency of mutations were determined in 116 FTD, 8 progressive supranuclear palsy (PSP) and 3 corticobasal syndrome (CBS) patients and haplotype diversity were analyzed in a study cohort comprising 116 FTD, 8 PSP, 3 CBS, 194 other dementia groups, 78 mild cognitive impairment (MCI) and 130 cognitively normal individuals and report no pathogenic mutations in FTD/PSP/CBS or haplotypic association with disease risk in FTD or other dementia patients. These findings suggest that there may be other genetic or epigenetic factors contributing to the pathogenesis of FTD in the south Indian population.

Original languageEnglish (US)
Pages (from-to)443.e23-443.e24
JournalNeurobiology of Aging
Volume35
Issue number2
DOIs
StatePublished - Feb 2014

Keywords

  • Association analysis
  • Frontotemporal dementia
  • Haplotypes
  • Microtubule-associated protein tau
  • Mutation analysis

ASJC Scopus subject areas

  • Neuroscience(all)
  • Aging
  • Clinical Neurology
  • Developmental Biology
  • Geriatrics and Gerontology

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