This article requires a subscription to view the full text. If you have a subscription you may use the login form below to view the article. Access to this article can also be purchased.
Alterations in the gene (PSEN1) encoding for the presenilin-1 protein (PS1) are thought to cause early-onset familial Alzheimer disease (FAD) through altered γ-secretase cleavage of amyloid precursor protein, leading to a relative increase in the amount of β-amyloid protein-42 (Aβ42)1 produced. That this form of the protein aggregates more readily than the more abundant Aβ40 species and its early presence in the amyloid plaques characteristic of the illness have provided support for the “amyloid hypothesis” of AD pathogenesis. A few alterations in the PSEN1 gene associated with AD occur in the portion of the gene coding for the cytoplasmic loop domain.2 The function of this portion of the protein remains unclear as deletion of the hydrophilic cytoplasmic domain from residues 304 to 371 has no effect on Aβ42 production.3 We report a case that raises the question as to whether alterations in this portion of PS1 consistently cause early-onset FAD.
Case report.
A 46-year-old man presented with cognitive decline over 5 …
AAN Members
We have changed the login procedure to improve access between AAN.com and the Neurology journals. If you are experiencing issues, please log out of AAN.com and clear history and cookies. (For instructions by browser, please click the instruction pages below). After clearing, choose preferred Journal and select login for AAN Members. You will be redirected to a login page where you can log in with your AAN ID number and password. When you are returned to the Journal, your name should appear at the top right of the page.
AAN Non-Member Subscribers
Purchase access
Letters: Rapid online correspondence
REQUIREMENTS
You must ensure that your Disclosures have been updated within the previous six months. Please go to our Submission Site to add or update your Disclosure information.
Your co-authors must send a completed Publishing Agreement Form to Neurology Staff (not necessary for the lead/corresponding author as the form below will suffice) before you upload your comment.
If you are responding to a comment that was written about an article you originally authored:
You (and co-authors) do not need to fill out forms or check disclosures as author forms are still valid
and apply to letter.
Submission specifications:
- Submissions must be < 200 words with < 5 references. Reference 1 must be the article on which you are commenting.
- Submissions should not have more than 5 authors. (Exception: original author replies can include all original authors of the article)
- Submit only on articles published within 6 months of issue date.
- Do not be redundant. Read any comments already posted on the article prior to submission.
- Submitted comments are subject to editing and editor review prior to posting.
