Familial Creutzfeldt-Jakob disease with the E200K mutation: longitudinal neuroimaging from asymptomatic to symptomatic CJD

J Neurol. 2015 Mar;262(3):604-13. doi: 10.1007/s00415-014-7615-1. Epub 2014 Dec 19.

Abstract

Familial Creutzfeldt-Jakob disease (fCJD) in Jews of Libyan ancestry is caused by an E200K mutation in the PRNP gene. While carriers are born with this mutation, they usually remain asymptomatic until middle age. Early detection of conversion is crucial for understanding and eventually for the treatment of the disease. The aim of this study was to report longitudinal MRI data in E200K individuals who eventually converted from healthy mutation carriers to clinically symptomatic CJD. As a part of a prospective study, asymptomatic E200K mutation carriers were scanned annually until their conversion to symptomatic disease. Standardized diffusion and anatomical MR sequences were performed before and after clinical conversion in the subjects and those were compared to 15 non-carrier siblings ("healthy controls"). Blinded radiological readings and region of interest analyses were performed. Radiological readings of individual cases failed to detect characteristic changes in the scans taken before the conversion. Region of interest analysis of diffusion changes in pre-symptomatic stage was inconclusive; however, ADC reduction was found in early and late stages of the disease. Computerized volumetric analysis revealed monotonic volume reductions in thalamus, putamen and caudate following conversion, and the lateral ventricles showed dilatation of up to 62 % after clinical conversion. Although the clinical manifestations at disease onset are variable, the diffusion abnormalities and/or volume changes in the thalamus and basal ganglia during conversion may indicate early involvement of the thalamostriatal neuronal circuit.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Adult
  • Brain / pathology*
  • Creutzfeldt-Jakob Syndrome* / diagnosis
  • Creutzfeldt-Jakob Syndrome* / genetics
  • Creutzfeldt-Jakob Syndrome* / physiopathology
  • Electroencephalography
  • Female
  • Glutamic Acid / genetics*
  • Humans
  • Image Processing, Computer-Assisted
  • Longitudinal Studies
  • Lysine / genetics*
  • Magnetic Resonance Imaging
  • Male
  • Mental Status Schedule
  • Middle Aged
  • Mutation / genetics*
  • Neuroimaging*
  • Prion Proteins
  • Prions / genetics*

Substances

  • PRNP protein, human
  • Prion Proteins
  • Prions
  • Glutamic Acid
  • Lysine