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[Creutzfeldt-Jakob Disease].

Aki Sato1

  • 1Department of Neurology, Niigata City General Hospital.

No Shinkei Geka. Neurological Surgery
|March 25, 2021
PubMed
Summary

Sporadic Creutzfeldt-Jacob disease (sCJD) and genetic CJD (gCJD) present with distinct brain imaging findings. sCJD shows asymmetrical cortical lesions, while V180I gCJD exhibits cortical ribboning on DWI.

Area of Science:

  • Neurology
  • Neuroimaging
  • Prion Diseases

Background:

  • Sporadic Creutzfeldt-Jacob disease (sCJD) is a rapidly progressive neurodegenerative prion disease.
  • Genetic CJD (gCJD) accounts for approximately 20% of CJD cases.
  • The V180I mutation is a common cause of gCJD in Japan, often with late onset and slow progression.

Purpose of the Study:

  • To differentiate imaging characteristics between sporadic CJD (sCJD) and a specific genetic CJD (gCJD) subtype.
  • To highlight the diagnostic utility of diffusion-weighted imaging (DWI) in prion diseases.

Main Methods:

  • Review of neuroimaging findings in sCJD and V180I gCJD patients.
  • Comparison of lesion distribution and signal intensity on MRI sequences (DWI, FLAIR, T2WI).

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Main Results:

  • sCJD typically presents with asymmetrical cortical lesions and thalamic involvement, sparing the limbic system.
  • Abnormal findings in sCJD are more conspicuous on DWI compared to FLAIR and T2WI.
  • V180I gCJD is characterized by abnormal cortical hyperintense signals (cortical ribboning) predominantly seen on DWI.

Conclusions:

  • Neuroimaging, particularly DWI, plays a crucial role in distinguishing between sCJD and V180I gCJD.
  • Distinct patterns of cortical involvement on DWI aid in the etiological classification of CJD.
  • Understanding these imaging differences is vital for accurate diagnosis and patient management.