A second family with familial AD and the V717L APP mutation has a later age of onset

Lisa Cipolotti, Godbolt, Collinge, Lisa Cipolotti, Martin N. Rossor, Nick C. Fox, Beck

Risultato della ricerca: Articlepeer review

8 Citazioni (Scopus)

Abstract

Four mutations have been reported at the 717 codon of the amyloid precursor protein (APP), with valine substituted by isoleucine, glycine, phenylalanine, and leucine. While several families with the isoleucine substitution have been described, the other substitutions have been reported in only one family each worldwide.A family with the V717L APP mutation has been previously reported,1 with a mean age at onset of 38 years (range 35 to 39), based on four affected family members, and a mean age at death of 46 years (range 40 to 50). We have identified a second family with a later mean age at onset of 50 years (range 48 to 57) and mean age at death of 61 years (range 57 to 68).
Lingua originaleEnglish
pagine (da-a)611-612
Numero di pagine2
RivistaNeurology
Volume66
Stato di pubblicazionePublished - 2006

All Science Journal Classification (ASJC) codes

  • Clinical Neurology

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