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A novel presenilin 1 deletion (p.L166del) associated with early onset familial Alzheimer's disease
Author(s) -
Knight W. D.,
Kennedy J.,
Mead S.,
Rossor M. N.,
Beck J.,
Collinge J.,
Mummery C.
Publication year - 2007
Publication title -
european journal of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.881
H-Index - 124
eISSN - 1468-1331
pISSN - 1351-5101
DOI - 10.1111/j.1468-1331.2007.01857.x
Subject(s) - medicine , presenilin , early onset alzheimer's disease , disease , alzheimer's disease , neuroscience , pediatrics , biology
We report the case of a 40 year‐old woman who, at 38 years of age, developed insidious memory loss and, subsequently, progressive dementia satisfying criteria for probable Alzheimer's disease (AD) (NINCDS‐ADRDA) [ Neurology 1984; 34 : 939]. Analysis of the presenilin 1 gene ( PSEN1 ) revealed a 496_498delCTT mutation at codon 166. The amnestic presentation and absence of other features contrasts with the majority of other documented deletions which have been associated with spastic paraparesis. They are, however, consistent with the reported clinical phenotype in the majority of PSEN1 exon 6 mutations so far reported.