Clinical profile, atrophy and inheritance patterns of pathogenic MAPT gene mutations in Frontotemporal dementia detected using whole exome sequencing: a single-center first report from India Article Swipe

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Subasree Ramakrishnan , Faheem Arshad , Bangalore Somashekar Keerthana , Susan Bosco , Arun Gokul Pon , V. H. Ganaraja , Deekshitha Madhusudhan , R Mahima , Gautham Arunachal , Karthick Kulanthaivelu , Suvarna Alladi ·

YOU? · · 2025 · Open Access · · DOI: https://doi.org/10.1186/s12883-025-04336-9

In the Indian context, pathogenic MAPT in FTD is being reported for the first time and notably from a single center by WES. Identifying pathogenic MAPT genes is important in planning mutation-specific clinical trials and understanding ethical and cultural differences in genetic FTD inheritance.

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Frontotemporal Dementia

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Frontotemporal dementia Exome sequencing Medicine Neurology Dementia Genetics Gene Mutation Atrophy Exome Neurochemistry Neurosurgery Inheritance (genetic algorithm) Bioinformatics Pathology Biology Psychiatry Disease

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Type: article
Language: en
Landing Page: https://doi.org/10.1186/s12883-025-04336-9
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DOI: https://doi.org/10.1186/s12883-025-04336-9

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Title: Clinical profile, atrophy and inheritance patterns of pathogenic MAPT gene mutations in Frontotemporal dementia detected using whole exome sequencing: a single-center first report from India

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Language: en

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Publication year: 2025

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Publication date: 2025-08-27

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Authors: Subasree Ramakrishnan, Faheem Arshad, Bangalore Somashekar Keerthana, Susan Bosco, Arun Gokul Pon, V. H. Ganaraja, Deekshitha Madhusudhan, R Mahima, Gautham Arunachal, Karthick Kulanthaivelu, Suvarna Alladi

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Landing page: https://doi.org/10.1186/s12883-025-04336-9

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Concepts: Frontotemporal dementia, Exome sequencing, Medicine, Neurology, Dementia, Genetics, Gene, Mutation, Atrophy, Exome, Neurochemistry, Neurosurgery, Inheritance (genetic algorithm), Bioinformatics, Pathology, Biology, Psychiatry, Disease

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