A presenilin 1 mutation (L420R) in a family with early onset Alzheimer disease, seizures and cotton wool plaques, but not spastic paraparesis

Antony E. Shrimpton, Robert L. Schelper, Reinhold P. Linke, John Hardy, Richard Crook, Dennis W. Dickson, Takashi Ishizawa, Richard L. Davis

Research output: Contribution to journalArticlepeer-review

26 Scopus citations

Abstract

Over 100 mutations in the presenilin-1 gene (PSEN1) have been shown to result in familial early onset Alzheimer disease (EOAD), but only a relatively few give rise to plaques with an appearance like cotton wool (CWP) and/or spastic paraparesis (SP). A family with EOAD, seizures and CWP was investigated by neuropathological study and DNA sequencing of the PSEN1 gene. Aβ was identified in leptomeningeal vessels and in cerebral plaques. A single point mutation, p.L420R (g.1508T > G) that gives rise to a missense mutation in the eighth transmembrane (TM8) domain of PS1 was identified in two affected members of the family. p.L420R (g.1508T > G) is the mutation responsible for EOAD, seizures and CWP without SP in this family.

Original languageEnglish (US)
Pages (from-to)228-232
Number of pages5
JournalNeuropathology
Volume27
Issue number3
DOIs
StatePublished - Jun 2007

Keywords

  • Alzheimer disease
  • Amyloid beta protein
  • Presenilin 1
  • Senile plaques
  • Spastic paraparesis

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Clinical Neurology

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