Monday, March 7, 2011

Devastating Vascular Disorder in the Brain Often Misdiagnosed as Multiple Sclerosis

MAYWOOD, Ill. -- 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 a thickening of blood vessel walls blocks blood flow in the brain. Migraine headaches are an early symptom of this condition, which progresses to strokes and mini-strokes, depression, apathy, motor disability and executive dysfunction (an 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. Other authors of the study are Dr. Sarkis Morales-Vidal; Christopher Randolph, PhD; Linda Chadwick, BSN, RN; and first author Dr. Rocío Vázquez do Campo.

About Loyola University Health System

Loyola University Health System (LUHS) is part of Trinity Health. Based in the western suburbs of Chicago, LUHS is a quaternary care system with a 61-acre main medical center campus, the 36-acre Gottlieb Memorial Hospital campus and more than 30 primary and specialty care facilities in Cook, Will and DuPage counties. Loyola University Medical Center’s campus is conveniently located in Maywood, 13 miles west of Chicago’s Loop and 8 miles east of Oak Brook, Ill. At the heart of the medical center campus is a 559-licensed-bed hospital that houses a Level 1 Trauma Center, a Burn Center and the Ronald McDonald® Children's Hospital of Loyola University Medical Center. Also on campus are the Cardinal Bernardin Cancer Center, Loyola Outpatient Center, Center for Heart & Vascular Medicine and Loyola Oral Health Center as well as Loyola University Chicago Stritch School of Medicine, Loyola University Chicago Marcella Niehoff School of Nursing and the Loyola Center for Fitness. Loyola's Gottlieb campus in Melrose Park includes the 255-licensed-bed community hospital, the Professional Office Building housing 150 private practice clinics, the Adult Day Care, the Gottlieb Center for Fitness, Loyola Center for Metabolic Surgery and Bariatric Care and the Loyola Cancer Care & Research at the Marjorie G. Weinberg Cancer Center at Melrose Park.

Trinity Health is a national Catholic health system with an enduring legacy and a steadfast mission to be a transforming and healing presence within the communities we serve. Trinity is committed to being a people-centered health care system that enables better health, better care and lower costs. Trinity Health has 88 hospitals and hundreds of continuing care facilities, home care agencies and outpatient centers in 21 states and 119,000 employees.