Making the diagnosis for a rare brain disease may now be easier, Elizabeth Tracey reports

Podcast: Download (Duration: 1:02 — 1.4MB)

Subscribe: RSS

Skin biopsies have proven better at diagnosing the rare brain disease Creutzfeldt-Jakob, abbreviated CJD, than doing a spinal tap to obtain cerebrospinal fluid, a new study reports. Ted Dawson, a neurologist at Johns Hopkins, says this new test has multiple advantages.

Dawson: This allows one to establish 1, the diagnosis. It can limit the need to have a pathologic diagnosis and the patient dies to examine the brain, or if the family and there's a need to do that, then the pathologic team can take appropriate precautions. The sensitivity and specificity of the test, it's a little better than doing a lumbar puncture if you do 2 skin biopsies.           :30

Dawson predicts skin biopsy will become the new gold standard when it comes to diagnosing CJD, which historically has been very challenging and disruptive for families since no one has been able to say with certainty what is wrong with their loved one until they die. At Johns Hopkins, I’m Elizabeth Tracey.