A novel presenilin 1 deletion (p.L166del) associated with early onset familial Alzheimer's disease

Authors: Knight, W. D.¹; Kennedy, J.¹; Mead, S.²; Rossor, M. N.¹; Beck, J.²; Collinge, J.²; Mummery, C.¹

Source: European Journal of Neurology, Volume 14, Number 7, July 2007 , pp. 829-831(3)

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Abstract:

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.

Keywords: Alzheimer's; deletion; dementia; familial; presenilin

Document Type: Short communication

DOI: http://dx.doi.org/10.1111/j.1468-1331.2007.01857.x

Affiliations: 1: Dementia Research Centre 2: MRC Prion Unit, Department of Neurodegenerative Diseases, Institute of Neurology, University College London, London, UK

Publication date: 2007-07-01