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Sporadic Creutzfeldt-Jakob Disease and Other Proteinopathies in Comorbidity

Eva Parobkova1,2, Julie van der Zee3,4, Lubina Dillen3,4

  • 1Department of Pathology and Molecular Medicine, Third Faculty of Medicine, Charles University and Thomayer Hospital, Prague, Czechia.

Frontiers in Neurology
|December 17, 2020
PubMed

Insights

This study investigated genetic factors in sporadic Creutzfeldt-Jakob disease (sCJD) and its comorbidities with Alzheimer's disease (AD) and primary age-related proteinopathy (PART). No critical genetic differences were found between pure sCJD and comorbid cases.

Area of Science:

  • Neuroscience
  • Genetics
  • Pathology

Background:

  • Sporadic Creutzfeldt-Jakob disease (sCJD) is the most common prion disease with an unclear etiology.
  • sCJD can co-occur with other neurodegenerative diseases, complicating diagnosis, such as Alzheimer's disease (AD).

Purpose of the Study:

  • To systematically analyze 15 genes associated with major neurodegenerative diseases in sCJD patients.
  • To compare MAPT haplotypes and study APOE-PRNP interactions in sCJD with and without comorbid proteinopathies.

Main Methods:

  • Genetic analysis of 15 key neurodegenerative disease genes in 30 neuropathologically verified sCJD cases.
  • Comparison of MAPT haplotypes and investigation of APOE and PRNP gene interactions.
  • Inclusion of sCJD cases with and without comorbid Alzheimer's disease (AD) and primary age-related proteinopathy (PART).

Main Results:

  • No causal mutations were identified in the screened neurodegenerative disease genes.
  • A variant of uncertain significance (VUS) in PSEN1 (p.E318G) was detected in three patients.
  • A previously described non-pathogenic insertion in PRNP (p.P84_Q91Q) was found.

Conclusions:

  • This pilot study found no critical genetic differences between pure sCJD and sCJD with comorbid neurodegenerative diseases.
  • Further research is required to elucidate the phenomenon of sCJD comorbidities.

Keywords:
Alzheimer's diseaseCreutzfeldt-Jakob diseaseneurodegenerative diseasetau proteinβ amyloid

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