CORRESPONDENCE
Reply to Dr Raux et al.: Molecular diagnosis of autosomal dominant early onset Alzheimer’s disease: an update (J Med Genet 2005;42:793–5)
Cognitive Function Clinic, Walton Centre for Neurology and Neurosurgery, Liverpool, UK
Correspondence to:
Correspondence to:
Dr A J Larner
Cognitive Function Clinic, Walton Centre for Neurology and Neurosurgery, Lower Lane, Fazakerley, Liverpoo, L9 7LJ, UK; a.larner@thewaltoncentre.nhs.uk
Revised version received 7 December 2005
Accepted 7 December 2005
Keywords: Alzheimer’s disease; presenilin-1
| The first 150 words of the full text of this article appear below. |
In their recent article, Dr Raux and colleagues1 report eight new presenilin-1 (PSEN1) mutations in autosomal dominant early onset Alzheimer’s disease (AD), four of which are said to be at codons not previously reported as mutant in AD (codons 214, 386, 391, and 424).
In our review of PSEN1 mutations,2 we identified a previous report from Poland3 of a mutation (L424R) at codon 424, with earlier age at onset (30–35 years) than in the French pedigree (38–42 years). Of the novel mutations at codons previously reported mutant in AD (codons 105, 116, 143, and 206),1 two (T116I and G206S) produce predicted amino acid substitutions already reported. In an Italian patient with the T116I mutation, with age at onset of 45 years, there was no family history of AD and this was thought to represent a de novo mutation.4 The G206S mutation has been reported but without clinical details.5
CiteULike 
Complore 
Connotea 
Del.icio.us 
Digg 
Reddit 
Technorati What's this?
- Full Text
- Full Text (PDF)
- Submit a response
- Alert me when this article is cited
- Alert me when eLetters are posted
- Alert me if a correction is posted
Services
- Email this link to a friend
- Similar articles in this journal
- Similar articles in PubMed
- Add article to my folders
- Download to citation manager
- Request Permissions
Citing Articles
Google Scholar
PubMed
Bookmark with
Register for free content
The full back archive is now available for all BMJ Journals. Institutional subscribers may access the entire archive as part of their subscription. Personal subscribers will also have access to all content when logged in. Non-subscribers who register have free access to all articles published before 2006 right back to volume 1 issue 1. Register here to access the free archive of all BMJ Journals.
Don't forget to sign up for content alerts so you keep up to date with all the articles as they are published.
