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Article

Clinical phenotype of frontotemporal dementia associated with the Pro392Leu SQSTM1 mutation.

Amyotrophic lateral sclerosis & frontotemporal degeneration - 1 Feb 2026

Roa-Escobar Javier, Agüero-Rabes Pablo, Martínez-Ulloa Pedro, Sainz María José, Pérez-Pérez Julián, Gómez-Tortosa Estrella

Abstract excerpt

Objective: To characterize the phenotypic spectrum of patients with frontotemporal dementia (FTD) carrying the P392L SQSTM1 mutation. Methods: We describe the clinical phenotype of three well-characterized probands carrying the P392L mutation, and review ten previously published FTD cases with the mutation. Results: All three cases were male with a presenile age of onset (52 or 64 years). Case 1 developed an...

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Identifiers

PMID: 40847817
DOI: 10.1080/21678421.2025.2549308

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SQSTM1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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