Ontology highlight
ABSTRACT:
SUBMITTER: Aswathy PM
PROVIDER: S-EPMC4031455 | biostudies-literature | 2014 Feb
REPOSITORIES: biostudies-literature
Aswathy P M PM Jairani P S PS Verghese Joe J Gopala Srinivas S Mathuranath P S PS
Neurobiology of aging 20130913 2
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 haplo ...[more]