Journal
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
Volume 80, Issue 3, Pages 345-346Publisher
BMJ PUBLISHING GROUP
DOI: 10.1136/jnnp.2008.149922
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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.
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