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

Paul Coleman, Roger Kurlan, Richard Crook, John S Werner, John Hardy

Research output: Contribution to journalArticle

15 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)139-140
Number of pages2
JournalNeuroscience Letters
Volume364
Issue number3
DOIs
StatePublished - Jul 8 2004
Externally publishedYes

Keywords

  • Alzheimer's disease
  • Genetics
  • Presenilin

ASJC Scopus subject areas

  • Neuroscience(all)

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