Progressive multifocal leukoencephalopathy diagnosed by amplification of JC virus-specific DNA from cerebrospinal fluid

AIDS. 1994 Jan;8(1):49-57. doi: 10.1097/00002030-199401000-00008.


Objective: To study the diagnostic sensitivity and specificity of polymerase chain reaction (PCR) for the non-invasive diagnosis of progressive multifocal leukoencephalopathy (PML) in HIV-1-infected individuals.

Design: Retrospective analysis of stored cerebrospinal fluid (CSF) samples by PCR of HIV-1-infected patients.

Methods: Results of the PCR analysis of the CSF of three AIDS patients with autopsy-proven PML were compared with the results in 15 neurologically asymptomatic HIV-1-infected patients and with 15 AIDS patients with other opportunistic infections of the central nervous system (CNS). A polyclonal antiserum to simian virus 40 (SV40) cross-reacting with JC virus (JCV) late antigens was used for immunocytochemical confirmation of the diagnosis. Two different primer pairs, one taken from the VP1/large T gene and the other from the large T gene, were used to amplify JCV-specific DNA sequences from CSF.

Results: Five CSF samples were analysed and JCV-specific DNA found in three patients with autopsy-proven PML. No JCV-specific DNA was detected in 47 CSF samples, including serial samples from 14 of the 30 non-PML patients. The diagnosis of PML was confirmed in all three cases by immunocytochemistry.

Conclusion: PML can be diagnosed by PCR analysis of CSF. The sensitivity and specificity of the method depends on the sensitivity of the primers used for amplification. Using a primer pair from the large T gene, JCV-specific DNA was amplified in three cases with PML as early as the day of presentation with the first neurological symptom of PML.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • AIDS-Related Opportunistic Infections / diagnosis*
  • Adult
  • Base Sequence
  • DNA, Viral / cerebrospinal fluid*
  • Female
  • HIV-1*
  • Humans
  • JC Virus / genetics*
  • Leukoencephalopathy, Progressive Multifocal / diagnosis*
  • Male
  • Molecular Sequence Data
  • Polymerase Chain Reaction / methods*
  • Retrospective Studies
  • Sensitivity and Specificity


  • DNA, Viral