Novel PSEN1 mutations (H214N and R220P) associated with familial Alzheimer's disease identified by targeted exome sequencing

Elena Piccoli, Giacomina Rossi, T. Rossi, Giuseppe Pelliccioni, Ilaria D'Amato, Fabrizio Tagliavini, Giuseppe Di Fede

Research output: Contribution to journalArticlepeer-review

Abstract

Autosomal dominant Alzheimer's disease (AD) is caused by mutations in amyloid precursor protein, presenilin 1 (PSEN1), and presenilin 2 genes and is mostly associated with early-onset form of AD (EOAD), whereas very few mutations were also found in late-onset AD (LOAD) cases. Because of the clinical overlapping between AD and other degenerative dementias such as frontotemporal dementias, a wide-spectrum genetic analysis should be envisaged in the differential diagnosis of this group of disorders. We used next-generation sequencing techniques to analyze 10 genes involved in dementia on a cohort of 20 EOAD and 20 LOAD cases. We found 5 rare coding variants (frequency

Original languageEnglish
Pages (from-to)192.e7-192.e11
JournalNeurobiology of Aging
Volume40
DOIs
Publication statusPublished - Apr 1 2016

Keywords

  • Alzheimer's disease
  • Mutation
  • PSEN1
  • Targeted exome sequencing

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)
  • Ageing
  • Developmental Biology
  • Geriatrics and Gerontology

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