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Challenging the boundaries: c9orf72 mutation presenting as Alzheimer's disease
Federico Garrou1, Fabiola De Marchi2, Lucia Corrado3
1Nuclear Medicine Unit, Azienda Ospedaliero Universitaria Maggiore della Carità, Novara, Italy.
Abstract:
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 amyloid-PET, with normal tau levels; [18F]FDG-PET revealed an AD-like temporoparietal hypometabolism. Genetic testing detected a pathogenic C9orf72 expansion, also present in his mother. This case suggests phenotypic heterogeneity of C9orf72-related disorders and a possible interplay with amyloid pathology.
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