Worldwide distribution of PSEN1 Met146Leu mutation: a large variability for a founder mutation.

ABSTRACT:

Objective

Large kindreds segregating familial Alzheimer disease (FAD) offer the opportunity of studying clinical variability as observed for presenilin 1 (PSEN1) mutations. Two early-onset FAD (EOFAD) Calabrian families with PSEN1 Met146Leu (ATG/CTG) mutation constitute a unique population descending from a remote common ancestor. Recently, several other EOFAD families with the same mutation have been described worldwide.

Methods

We searched for a common founder of the PSEN1 Met146Leu mutation in families with different geographic origins by genealogic and molecular analyses. We also investigated the phenotypic variability at onset in a group of 50 patients (mean age at onset 40.0 +/- 4.8 years) by clinical, neuropsychological, and molecular methodologies.

Results

EOF

SUBMITTER: Bruni AC 

PROVIDER: S-EPMC3672006 | biostudies-literature | 2010 Mar

REPOSITORIES: biostudies-literature