A novel mutation (Thr116IIe) in the presenilin 1 gene in a patient with early-onset Alzheimer's disease

Vincenzo La Bella, Tommaso Piccoli, La Bella, Manna, Rita Cittadella, Maria Liguori, Aldo Quattrone, Federico Piccoli

Risultato della ricerca: Articlepeer review

16 Citazioni (Scopus)

Abstract

We report a novel presenilin 1 (PSN1) mutation (Thr116Ile) in a woman with early onset Alzheimer's disease (AD). This mutation was not found in 100 healthy controls, indicating that this is not a common polymorphism. The patient presented with forgetfulness at age 45, followed over the next 3 years by a worsening of the memory loss and frequent episodes of confusion and spatial disorientation. Neuroimaging studies were consistent with AD. The analysis of the family's pedigree showed that the proband was apparently the only member affected. Because the early death of several close relatives (i.e. the mother and the grandmother) and the demonstration that the father is not a mutation carrier, it is suggested that either a de novo mutation or a censor effect might have occurred. Our finding supports the indication that PSN1 mutations should be searched for in early-onset AD, particularly when a censor effect precludes a precise genetic analysis.
Lingua originaleEnglish
pagine (da-a)521-524
Numero di pagine4
RivistaEUROPEAN JOURNAL OF NEUROLOGY
Volume11
Stato di pubblicazionePublished - 2004

All Science Journal Classification (ASJC) codes

  • Neurology
  • Clinical Neurology

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