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

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

Research output: Contribution to journalLetterpeer-review

Abstract

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 Alzheimer's disease-but biomarkers were not-and considering the family-history, genetic analysis was performed, revealing the P392L-variant in SQSTM1, which encodes for sequestosome-1/p62. Increasing evidence suggests a p62 involvement in neurodegeneration and SQSTM1 mutations have been found to cause amyotrophic lateral sclerosis/frontotemporal dementia. Our report suggests that the clinical spectrum of SQSTM1 variants is wider.

Original languageEnglish
Pages (from-to)477-481
Number of pages5
JournalJournal of Alzheimer's disease : JAD
Volume79
Issue number2
DOIs
Publication statusPublished - 2021

Keywords

  • Alzheimer’s disease
  • early-onset dementia
  • next-generation sequencing
  • p62
  • SQSTM1

ASJC Scopus subject areas

  • Neuroscience(all)
  • Clinical Psychology
  • Geriatrics and Gerontology
  • Psychiatry and Mental health

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