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

Abstract Background/Objectives Frontotemporal Dementia (FTD) is one of the common causes of early-onset degenerative dementia and is a clinically and pathologically heterogeneous group of neurodegenerative disorders. Globally, Microtubule Associated Protein Tau (MAPT), progranulin (GRN), and Chromos...

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Detalhes bibliográficos

Principais autores:	Subasree Ramakrishnan, Faheem Arshad, B. S. Keerthana, Susan Bosco, Arun Gokul Pon, V. H. Ganaraja, Deekshitha Madhusudhan, R. Mahima, Gautham Arunachal, Karthick Kulanthaivelu, Suvarna Alladi
Formato:	Artigo
Idioma:	Inglês
Publicado em:	BMC 2025-08-01
Colecção:	BMC Neurology
Assuntos:	Frontotemporal dementia MAPT GRN SQSTM1 Whole Exome Sequencing
Acesso em linha:	https://doi.org/10.1186/s12883-025-04336-9
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