New guideline to help diagnose brain disease

(Edmonton) Two medical researchers at the University of Alberta penned a new guideline that will help physicians diagnose a degenerative, fatal brain condition known as sporadic Creutzfeldt-Jakob disease (CJD). The new guideline was released by the American Academy of Neurology Sept. 20.

The new guideline gives physicians guidance on when to conduct a specific spinal-fluid test looking for an elevated amount of 14-3-3 protein, which is found in the cerebrospinal fluid of patients with Creutzfeldt-Jakob disease. The gold standard for diagnosing sporadic CJD is a brain biopsy, but it can be dangerous and can lead to brain damage, say guideline authors Taim Muayqil and Richard Camicioli, neurologists in the U of A’s Faculty of Medicine & Dentistry, and Gary Gronseth, a colleague from the University of Kansas Medical Center.

The authors reviewed research articles that included more than 1,800 patient results from people who were suspected of having sporadic CJD, a disease caused by an abnormal protein deposited in the brain at high levels that causes neurons to die, triggering the fast-paced dementia seen in the condition.

Researchers say there are concerns about using this spinal-fluid test because it can give false positives and false negatives. However, in 92 per cent of the cases reviewed, the spinal-fluid test detected the rare disease, which typically leads to death within 12 months.

“In the neurological community, the concern has always been whether this 14-3-3 protein is useful—is it informative?” said Muayqil. “Hopefully this study can shed more light on the usefulness of this protein. We hope the new guideline is going to help neurologists in making decisions and diagnosing patients, especially in cases that are confusing.

“Because there is no treatment or cure, it is beneficial to get a diagnosis and prepare the patient and family. We hope this new guideline will lead to more accurate diagnoses, and help patients prepare sooner and provide closure for families.”

“We hope it helps guide physicians on how to use the information,” Camicioli added. “CJD is a devastating disease. If a family member suffers from CJD, it’s important for families to have an understanding of the disease. In making the diagnoses, it is important to do it in the best way possible, to use the best approach to diagnoses.”

Camicioli is a neurologist and researcher with the Department of Medicine. He is currently on a one-year sabbatical as a visiting professor with the University of Lausanne in Switzerland. Muayqil completed neurology training through the Faculty of Medicine & Dentistry and recently became a neurologist and faculty member with King Saud University in Saudi Arabia, which funded his fellowship at the U of A.