A novel presenilin 1 L166H mutation in a pseudo-sporadic case of early-onset Alzheimer's disease

R. Pantieri, M. Pardini, M. Cecconi, F. Dagna-Bricarelli, A. Vitali, A. Piccini, R. Russo, R. Borghi, M. Tabaton

Research output: Contribution to journalArticlepeer-review

Abstract

We report a 44-year-old woman presenting at 33 years with memory loss, followed by progressive dementia. Her family history was negative for dominant genetic disorders at high penetrance. Analysis of presenilin-1 gene revealed a missense mutation at codon 166, leading to the substitution from leucine to histidine. The mutation occurs in the third transmembrane domain of presenilin-1, at the position of two different mutations previously described, associated with an atypical phenotype. The present case has two implications: (1) mutations of presenilin-1 have to be searched also in apparently sporadic cases of dementia beginning in the third decade of life; (2) as yet unidentified factors, besides the γ-secretase complex, influence the phenotype of presenilin-1 mutations.

Original languageEnglish
Pages (from-to)349-350
Number of pages2
JournalNeurological Sciences
Volume26
Issue number5
DOIs
Publication statusPublished - Dec 2005

Keywords

  • Beta amyloid
  • Familial Alzheimer's disease
  • Gene mutations
  • Presenilin-1

ASJC Scopus subject areas

  • Neuroscience(all)
  • Clinical Neurology

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