CADASIL may be misdiagnosed as Multiple Scleroris (MS)

Nov. 15, 2012 - PRLog -- Friday, November 16, 2012 is CADASIL Awareness Day throughout the world. CADASIL Association and others in the global CADASIL community are joining together to inform the public and the medical community about this rare genetic condition. CADASIL is one of approximately 7,000 rare diseases affecting 30 million Americans, or almost one in every ten Americans. http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1230/viewAbstract

A press release from Dr. José Biller at Loyola University in March 2011 states, in part “…CADASIL, which strikes young adults and leads to early dementia, often is misdiagnosed as multiple sclerosis. 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.”
Full version: http://www.luhs.org/depts/media/release/reportdetail.cfm?autonumber=973441406 (Search for keyword CADASIL)

CADASIL is now listed at the National Multiple Sclerosis Society as a condition a doctor needs to rule out before diagnosing a patient with MS. Source: http://www.nationalmssociety.org/about-multiple-sclerosis/do-i-have-ms/other-conditions-your-doctor-needs-to-rule-out/index.aspx

Dr. Joseph F. Arboleda-Velasquez, a Harvard Medical School affiliated scientist, is currently testing new promising compounds that could be used to treat CADASIL. This work, which is being conducted in collaboration with pharmaceutical companies, focuses on evaluating whether manipulation of the Notch signaling pathway could rescue vascular degeneration. This research may lead to therapeutic approaches for this devastating human syndrome affecting hundreds of families around the world.

Dr. Michael Wang at the University of Michigan and the Ann Arbor VA leads a research team that investigates CADASIL. His NIH- and VA-funded research program has identified proteins that may participate in the disease, and one of the goals of his research is to understand how these proteins act in the disease process. He remains hopeful that an upsurge in interest in CADASIL and increased public awareness of the disease will accelerate progress in the field.