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Article

De Novo PS1 Mutation (Pro436Gln) in a Very Early-Onset Posterior Variant of Alzheimer's Disease Associated with Spasticity: A Case Report.

Journal of Alzheimer's disease : JAD - 1 Jan 2021

Agüero Pablo, Sainz María José, Téllez Raquel, Lorda Isabel, Ávila Almudena, García-Ribas Guillermo, Rodríguez Patricia Paredes, Gómez-Tortosa Estrella

Abstract excerpt

We report a patient with sporadic Alzheimer's disease with onset in his twenties found to carry the de novo Pro436Gln mutation in the presenilin 1 gene (PS1). Clinical phenotype featured a posterior cortical syndrome with severe visual agnosia and mild limb spasticity with brisk reflexes. Brain MRI and FDG-PET scans revealed severe parieto-occipital atrophy/hypometabolism. Cerebrospinal fluid biomarkers showed a...

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PMID: 34366350
DOI: 10.3233/JAD-210420

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