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Challenging the boundaries: c9orf72 mutation presenting as Alzheimer's disease.

Amyotrophic lateral sclerosis & frontotemporal degeneration - 1 Feb 2026

Garrou Federico, De Marchi Fabiola, Corrado Lucia, Sacchetti Gian Mauro, D'alfonso Sandra, Morbelli Silvia Daniela, Perani Daniela, Mazzini Letizia, Tondo Giacomo

Abstract excerpt

C9orf72 hexanucleotide repeat expansion is a major cause of Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia (FTD), while its link with Alzheimer's disease (AD) is still unclear. We describe the case of a 53-year-old man with progressive memory and language deficits, mood disturbances, and a positive family history for ALS-FTD. Cerebrospinal fluid showed amyloid positivity, confirmed by...

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PMID: 40767591
DOI: 10.1080/21678421.2025.2541761

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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