Vascular brain disorder misdiagnosed as multiple sclerosis
A devastating vascular disorder of the brain called CADASIL, which strikes young adults and leads to early dementia, often is misdiagnosed as multiple sclerosis, Loyola University Health System researchers report. CADASIL occurs when thickening of blood vessel walls blocks blood flow in the brain. The early manifestation is migraine headaches, progressing to strokes and mini strokes, depression, apathy, motor disability and executive dysfunction (inability to plan and organize everyday activities.) The final symptom is dementia.
CADASIL is caused by mutations of a single gene called NOTCH 3. If an individual carries the mutated gene, he or she inevitably will develop the disease, and there's a 50 percent chance that each of the individual's children will inherit the mutation and the disease.
Researchers conducted an exhaustive series of genetic, physical and psychological tests and exams on 11 CADASIL patients. "We found a delay in the detection of this pathology and previous diagnostic errors in some patients and their relatives," researchers wrote. "Multiple sclerosis was the most frequent misdiagnosis."
The study is published in Revista de Neurologia (Journal of Neurology) in Spain.
The study was a subset of a larger study to determine whether the Alzheimer's disease drug donepezil (trade name, Aricept®) can help in CADASIL patients. This larger study found there generally was no benefit to the drug.
CADASIL stands for cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. It was realistically portrayed by one of the main characters in the critically acclaimed 2004 movie "The Sea Inside."
"It is a terrible disease that runs in families, and unfortunately we as yet don't have effective treatments," said Dr. José Biller, senior author of the study and chairman of the Department of Neurology of Loyola University Chicago Stritch School of Medicine.
There are several reasons why CADASIL is misdiagnosed as MS. Both diseases tend to strike young adults. There are similarities in brain MRIs, and both diseases can cause focal neurologic signs and symptoms.
While there currently are no effective treatments, researchers are making significant progress in better understanding CADASIL, Biller said. "The field is exploding, and there is hope down the road that there will be new treatments for these patients," Biller said.
Source: Loyola University Health System
Articles on the same topic
- Multiple sclerosis blocked in mouse modelMon, 7 Mar 2011, 13:06:02 EST
- Vascular brain disorder often misdiagnosed as multiple sclerosis, study findsfrom Science DailyWed, 9 Mar 2011, 23:30:17 EST
- Vascular brain disorder misdiagnosed as multiple sclerosisfrom Science CentricWed, 9 Mar 2011, 15:00:21 EST
- Vascular Brain Disorder Misdiagnosed as Multiple Sclerosisfrom Newswise - ScinewsWed, 9 Mar 2011, 10:30:37 EST
- Vascular disorder in the brain often misdiagnosed as multiple sclerosisfrom PhysorgTue, 8 Mar 2011, 15:31:00 EST
- Multiple sclerosis blocked in mouse modelfrom Science CentricTue, 8 Mar 2011, 10:10:46 EST
- Multiple Sclerosis Blocked in Mouse Modelfrom Newswise - ScinewsMon, 7 Mar 2011, 17:00:17 EST
- Multiple sclerosis blocked in mouse modelfrom PhysorgMon, 7 Mar 2011, 15:00:45 EST
- Multiple sclerosis blocked in mouse modelfrom Science BlogMon, 7 Mar 2011, 13:00:33 EST
- Multiple sclerosis blocked in mouse model: Barring immune cells from brain prevents symptomsfrom Science DailyMon, 7 Mar 2011, 11:30:45 EST
Latest Science NewsletterGet the latest and most popular science news articles of the week in your Inbox! It's free!
Learn more about
Check out our next project, Biology.Net
From other science news sites
Popular science news articles
- NASA explains why June 30 will get extra second
- Genetic discovery uncovers key tool for morphine production in poppies
- NASA's Hubble sees a 'behemoth' bleeding atmosphere around a warm exoplanet
- First species of yeti crab found in Antarctica named after British deep-sea biologist
- Corals are already adapting to global warming, scientists say
- Cooking up cognition
- American surgery patients -- more pain medication, yet more pain!
- New climate stress index model challenges doomsday forecasts for world's coral reefs
- Alice instrument's ultraviolet close-up provides a surprising discovery about comet's atmosphere
- Circular orbits identified for small exoplanets