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Article

Detection of the SQSTM1 Mutation in a Patient with Early-Onset Hippocampal Amnestic Syndrome.

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

Carandini Tiziana, Sacchi Luca, Ghezzi Laura, Pietroboni Anna M, Fenoglio Chiara, Arighi Andrea, Fumagalli Giorgio G, De Riz Milena A, Serpente Maria, Rotondo Emanuela, Scarpini Elio, Galimberti Daniela

Abstract excerpt

Genetics has a major role in early-onset dementia, but the correspondence between genotype and phenotype is largely tentative. We describe a 54-year-old with familial early-onset slowly-progressive episodic memory impairment with the P392L-variant in SQSTM1. The patient showed cortical atrophy and hypometabolism in the temporal lobes, but no amyloidosis biomarkers. As symptoms/neuroimaging were suggestive for...

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PMID: 33325387
DOI: 10.3233/JAD-201231

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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