Familial frontotemporal dementia associated with a novel presenilin-1 mutation

D. Tang-Wai, P. Lewis, Bradley Boeve, M. Hutton, T. Golde, M. Baker, J. Hardy, V. Michels, R. Ivnik, C. Jack, R. Petersen

Research output: Contribution to journalArticle

56 Scopus citations


We report a kindred with three cases of dementia. The proband presented with forgetfulness and personality changes at age 56, followed shortly thereafter by behavioral dyscontrol, hyperphagia, hypersexuality, delusions, illusions, disinhibition and double incontinence. Neuroimaging studies were consistent with frontotemporal dementia (FTD). In one allele, an arginine insertion at codon 352 in the presenilin 1 (PSEN1) gene was identified; no mutation was identified in the amyloid precursor protein or tau genes. We conclude that the clinical features of the Kluver-Bucy syndrome and FTD can be associated with PSEN1 mutations. Furthermore, presenilin analyses may be helpful to characterize kindreds with familial dementing illnesses regardless of the phenotype, particularly if no tau mutation is present.

Original languageEnglish (US)
Pages (from-to)13-21
Number of pages9
JournalDementia and geriatric cognitive disorders
Issue number1
StatePublished - Jun 22 2002



  • Alzheimer's disease
  • Frontotemporal dementia
  • Neurodegenerative disease
  • Neurogenetics
  • Presenilin

ASJC Scopus subject areas

  • Geriatrics and Gerontology
  • Cognitive Neuroscience
  • Psychiatry and Mental health

Cite this