Elsevier

Neuroscience Letters

Volume 364, Issue 3, 8 July 2004, Pages 139-140
Neuroscience Letters

A new presenilin Alzheimer’s disease case confirms the helical alignment of pathogenic mutations in transmembrane domain 5

https://doi.org/10.1016/j.neulet.2004.04.030Get rights and content

Abstract

In a case of familial early onset Alzheimer’s disease, a mutation was detected in exon 7 of the presenilin 1 gene at codon 226 with a resultant amino acid change from leucine (CTC) to arginine (CGC) (L226R). This is a novel finding, yet is consistent with the previously reported mutations at codons 222, 229, 233 and 237 in transmembrane domain 5 which show a helical alignment of mutations in this domain. We conclude that the cause of Alzheimer’s disease in this patient is an authentic PS1 gene abnormality responsible for the patient’s early onset Alzheimer’s disease.

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Acknowledgments

PC and RK would like to acknowledge funding support: P50AGO 8665 and ROI AG14441.

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