Study examines delayed, misdiagnosis of sporadic Jakob-Creutzfeldt disease

A medical record review study of 97 patients with the fatal, degenerative brain disorder sporadic Jakob-Creutzfeldt disease (sCJD) suggests that a correct diagnosis of the disease was often delayed by a variety of misdiagnoses, according to a report published Online First by Archives of Neurology.

The disease is often misdiagnosed because of a variability of early symptoms and signs, a variability in disease duration and a lack of recognition of the condition in the . Often, sCJD is mistaken for other such as Alzheimer disease and with Lewy bodies, according to the study background.

Ross W. Paterson, M.R.C.P., and colleagues from the University of California, San Francisco, retrospectively reviewed all cases referred to the UCSF Memory and Aging Center rapidly progressing dementia and CJD clinical research program between August 2001 and February 2007. They identified 97 with pathology-proven sCJD for whom they had sufficient medical records (40 women and 57 men who ranged in age from 26 to 83 years).

The 97 patients had received a combined total of 373 alternative diagnoses prior to their diagnosis of likely CJD, with an average of 3.8 misdiagnoses per patient. The physicians who most commonly made the misdiagnoses were and neurologists. In the 18 percent of patients (17 patients) who were correctly diagnosed at their first assessment, the diagnosis was almost always made by a . The average time from onset to diagnosis was almost eight months, an average of two-thirds the way through the disease course, according to the study results.

"In any patient with a rapidly progressive dementia who has been given multiple potential diagnoses, sCJD must be considered," the authors comment.

Researchers note that "early and accurate" diagnosis of sCJD is valuable for public health reasons and to allow for potential treatments to be tested as early as possible in the disease course.

"It would therefore be valuable to improve early and accurate diagnosis of sCJD premortem to identify at-risk persons, allowing for public health measures that would prevent transmission to healthy individuals through blood donation, infected surgical equipment and or other medical procedures," the authors conclude.

In an editorial, Richard J. Caselli, M.D., of the Mayo Clinic Arizona, Scottsdale, writes: "Unquestionably, when confronted with the syndrome of rapidly progressive dementia, our first concern must be the search for reversible causes, a point that Paterson et al discuss in this issue of Archives, but their main point is to illustrate the diagnostic journey patients with CJD travel on their way to a final and very unfortunate diagnosis."

"There is also a societal dimension to the timely diagnosis of CJD. At this time of global economic crisis, national health care reform, escalating medical expenditures and an aging population (creating projections of accelerating health care-driven financial gloom and doom), the financial burden posed by prolonged and duplicative testing that results from diagnostically ambiguous cases of rapidly progressive dementia must also be considered," Caselli continues.

"As we attempt to rein in health care costs while sacrificing no degree of medical accuracy or compassion, we owe it to our patients and to society to have the necessary knowledge to consider the diagnosis, establish the diagnosis as efficiently as possible, and then work with patients, families and palliative care providers to maximize the quality of life for our dying patients," Caselli concludes.

More information:
Arch Neurol. Published online September 24, 2012. doi:10.1001/2013.jamaneurol.79
Arch Neurol. Published online September 24, 2012. doi:10.1001/2013.jamaneurol.1

Related Stories

Difficulties in diagnosing dementia type

May 31, 2011

"It is true that we know of around 70 different types of dementia, but these findings are shocking. We believed more patients were diagnosed correctly when we began the study", say researchers Elisabet Englund and Hans Brunnström ...

Recommended for you

Know the brain, and its axons, by the clothes they wear

12 hours ago

(Medical Xpress)—It is widely know that the grey matter of the brain is grey because it is dense with cell bodies and capillaries. The white matter is almost entirely composed of lipid-based myelin, but ...

Turning off depression in the brain

Apr 17, 2014

Scientists have traced vulnerability to depression-like behaviors in mice to out-of-balance electrical activity inside neurons of the brain's reward circuit and experimentally reversed it – but there's ...

Rapid whole-brain imaging with single cell resolution

Apr 17, 2014

A major challenge of systems biology is understanding how phenomena at the cellular scale correlate with activity at the organism level. A concerted effort has been made especially in the brain, as scientists are aiming to ...

User comments