A novel presenilin1 mutation (Q223R) associated with early onset Alzheimer's disease, dysarthria and spastic paraparesis and decreased Abeta levels in CSF

I. Uttner, J. Kirchheiner, H. Tumani, F. M. Mottaghy, E. Lebedeva, E. Oezer, A. C. Ludolph, Rudolf M. Huber, Christine A. F. von Arnim*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

12 Citations (Web of Science)


A novel presenilin1 (PSEN1) mutation associated with dementia and spastic paraplegia in a family with five affected individuals is described. The index patient was a 35-year-old man presenting with cognitive decline, behavioural symptoms, dysarthria, and gait disorder due to spasticity.Genetic analysis revealed a missense mutation Gln223Arg in exon 7. Initial CSF analysis revealed drastically decreased Abeta42 level despite marginally decreased FDG metabolism.Cerebrospinal fluid biomarker analysis might point towards genetic analysis of PSEN1 in patients with positive family history and age of onset below 60 years.
Original languageEnglish
Pages (from-to)631-633
JournalEuropean Journal of Neurology
Issue number4
Publication statusPublished - Apr 2010


  • Alzheimer's
  • CSF
  • familial
  • neuropsychology
  • presenilin
  • spastic paraparesis

Cite this