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...

Celý popis

Podrobná bibliografie

Hlavní autoři:	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
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	BMC 2025-08-01
Edice:	BMC Neurology
Témata:	Frontotemporal dementia MAPT GRN SQSTM1 Whole Exome Sequencing
On-line přístup:	https://doi.org/10.1186/s12883-025-04336-9
Tagy:	Přidat tag Žádné tagy, Buďte první, kdo vytvoří štítek k tomuto záznamu!