Article Text

PDF
Prion mutation D178N with highly variable disease onset and phenotype
  1. M Synofzik1,
  2. P Bauer2,
  3. L Schöls1
  1. 1
    Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany
  2. 2
    Department of Medical Genetics, University of Tübingen, Tübingen, Germany
  1. Professor L Schöls, Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, Hoppe-Seyler-Str. 3, University of Tübingen, 72076 Tübingen, Germany; ludger.schoels{at}uni-tuebingen.de

Abstract

Hereditary prion disease is a fatal genetic disorder of autosomal dominant inheritance. Recent phenotype–genotype correlation studies revealed a considerable clinical and pathological overlap for patients with the D178N mutation, suggesting a continous spectrum between fatal familial insomnia and Creutzfeldt–Jakob Disease phenotype. This report adds further evidence to this thesis from a large German prion pedigree with D178N mutation in the PRNP-gene. This pedigree shows an extensive variability in (1) age of disease onset, ranging from 19 to 72 years and including an asymptomatic 73-year-old gene carrier and (2) disease phenotype, including a Gerstmann–Straussler–Scheinker phenotype. These findings have substantial importance for genetic counselling of persons at risk.

Statistics from Altmetric.com

Footnotes

  • Competing interests: None.

  • Patient consent: Obtained.

Request permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.