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 Citations (Scopus)

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 - Jan 1 2014

Fingerprint

Frontotemporal Dementia
Microtubule-Associated Proteins
Dementia
India
Progressive Supranuclear Palsy
Mutation
Mutation Rate
Epigenomics
Haplotypes
Cohort Studies
Population
Genes

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

Cite this

Microtubule-associated protein tau genetic variations are uncommon cause offrontotemporal dementia in south India. / Aswathy, P. M.; Jairani, P. S.; Verghese, Joe; Gopala, Srinivas; Mathuranath, P. S.

In: Neurobiology of Aging, Vol. 35, No. 2, 01.01.2014, p. 443.e23-443.e24.

Research output: Contribution to journalArticle

Aswathy, P. M. ; Jairani, P. S. ; Verghese, Joe ; Gopala, Srinivas ; Mathuranath, P. S. / Microtubule-associated protein tau genetic variations are uncommon cause offrontotemporal dementia in south India. In: Neurobiology of Aging. 2014 ; Vol. 35, No. 2. pp. 443.e23-443.e24.
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