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A novel insertional mutation in the prion protein gene: clinical and bio-molecular findings
  1. C Mauro1,
  2. G Giaccone2,
  3. G Piscosquito3,
  4. A Lavorgna1,
  5. M Nigro3,
  6. G Di Fede2,
  7. A Leonardi1,
  8. C Coppola3,
  9. S Formisano1,
  10. F Tagliavini2,
  11. R Cotrufo3,
  12. G Puoti3
  1. 1
    Department of Cellular and Molecular Biology and Pathology, “Federico II” University of Naples, Italy
  2. 2
    National Neurologic Institute “C. Besta”, Milano, Italy
  3. 3
    Department of Neurological Sciences, First Division of Neurology, Second University of Naples, Italy
  1. Dr Gianfranco Puoti, MD, PhD, Department of Neurological Sciences, First Division of Neurology, Second University of Naples, Via Pansini 5, 80131 Naples, Italy; gianfranco.puoti{at}unina2.it

Abstract

A young man, presenting with early onset of personality and behavioural changes followed by slowly progressive cognitive impairment associated with marked bi-parietal cerebral atrophy, was found to carry a novel seven extra-repeat insertional mutation in the prion protein gene (PRNP). In vitro, the mutated recombinant prion protein (PrP) showed biochemical properties that were consistent with pathological PrP variants. Our results further underline the heterogeneity of neurological pictures associated with insertional mutations of PRNP, indicating the diagnostic difficulties of sporadic cases with early-onset atypical dementia.

https://doi.org/10.1136/jnnp.2007.142976

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    Footnotes

    • Competing interests: None declared.