Linkage of frontotemporal dementia to chromosome 17: clinical and neuropathological characterization of phenotype

Am J Hum Genet. 1996 Dec;59(6):1306-12.

Abstract

Frontotemporal dementia is a behavioral disorder of insidious onset and variable progression. Clinically, its early features reflect frontal lobe dysfunction characterized by personality change, deterioration in memory and executive functions, and stereotypical and perseverative behaviors. Pathologically, there is degeneration of the neocortex and subcortical nuclei, without distinctive features such as plaques, neurofibrillary tangles, or Pick or Lewy bodies. Within-family variation in neuropathology and clinical phenotype is observed. In cases where family aggregation is observed, it is inherited as an autosomal dominant, age-dependent disorder. Family studies recently have identified two dementia loci: chromosome 17 for disinhibition-dementia-parkinsonism-amyotrophic complex and pallido-ponto-nigral degeneration and chromosome 3 for familial nonspecific dementia. We describe a family (DUK1684) with clinically and neuropathologically confirmed, autosomal dominant, non-Alzheimer disease dementia. Linkage analysis of this family showed evidence for linkage to chromosome 17q21, with a multipoint location score (log10) of 5.52. A comparison of the clinical and pathological features in DUK1684 with those of the other chromosome 17-linked families, together with the linkage data, suggests that these families are allelic. These studies emphasize that genetic linkage analysis remains a useful tool for differentiating disease loci in clinically complex traits.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Age of Onset
  • Chromosomes, Human, Pair 17 / genetics*
  • Dementia / genetics*
  • Dementia / physiopathology
  • Female
  • Frontal Lobe*
  • Genetic Linkage
  • Haplotypes
  • Humans
  • Male
  • Middle Aged
  • Pedigree
  • Phenotype
  • Repetitive Sequences, Nucleic Acid
  • Temporal Lobe*