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

NEUROBIOLOGY OF AGING

卷:35

Article

Aswathy, P. M.¹  Jairani, P. S.¹  Verghese, Joe^3,4  Gopala, Srinivas²  Mathuranath, P. S.¹ 

[1] Sree Chitra Tirunal Inst Med Sci & Technol, Dept Neurol, Cognit & Behav Neurol Sect, Thiruvananthapuram 695011, Kerala, India

[2] Sree Chitra Tirunal Inst Med Sci & Technol, Dept Biochem, Thiruvananthapuram 695011, Kerala, India

[3] Albert Einstein Coll Med, Integrated Div Cognit, Bronx, NY 10467 USA

[4] Albert Einstein Coll Med, Integrated Div Motor Aging Neurol & Geriatr Med, Bronx, NY 10467 USA

关键词: Frontotemporal dementia;    Microtubule-associated protein tau;    Haplotypes;    Mutation analysis;    Association analysis;   

DOI  :  10.1016/j.neurobiolaging.2013.08.010

来源: Elsevier

【 摘 要 】

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. (C) 2014 Published by Elsevier Inc.

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