Familial frontotemporal dementia associated with a novel presenilin-1 mutation

D. Tang-Wai, P. Lewis, Bradley F Boeve, M. Hutton, T. Golde, M. Baker, J. Hardy, V. Michels, R. Ivnik, Clifford R Jr. Jack, Ronald Carl Petersen

Research output: Contribution to journalArticle

55 Citations (Scopus)

Abstract

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
Volume14
Issue number1
DOIs
StatePublished - 2002

Fingerprint

Presenilin-1
Frontotemporal Dementia
Dementia
Mutation
Kluver-Bucy Syndrome
Presenilins
Hyperphagia
Delusions
Amyloid beta-Protein Precursor
Neuroimaging
Codon
Genes
Personality
Arginine
Alleles
Phenotype

Keywords

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

ASJC Scopus subject areas

  • Neuropsychology and Physiological Psychology
  • Geriatrics and Gerontology

Cite this

Familial frontotemporal dementia associated with a novel presenilin-1 mutation. / Tang-Wai, D.; Lewis, P.; Boeve, Bradley F; Hutton, M.; Golde, T.; Baker, M.; Hardy, J.; Michels, V.; Ivnik, R.; Jack, Clifford R Jr.; Petersen, Ronald Carl.

In: Dementia and Geriatric Cognitive Disorders, Vol. 14, No. 1, 2002, p. 13-21.

Research output: Contribution to journalArticle

Tang-Wai, D. ; Lewis, P. ; Boeve, Bradley F ; Hutton, M. ; Golde, T. ; Baker, M. ; Hardy, J. ; Michels, V. ; Ivnik, R. ; Jack, Clifford R Jr. ; Petersen, Ronald Carl. / Familial frontotemporal dementia associated with a novel presenilin-1 mutation. In: Dementia and Geriatric Cognitive Disorders. 2002 ; Vol. 14, No. 1. pp. 13-21.
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AU - Baker, M.

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