Contact Us | Print Page | Sign In | Register
Cadasil Misdiagnosed as MS
Share |

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a rare, genetic disorder caused by mutations in the Notch3 gene that affect the muscle walls in the small arteries that provide blood flow to the brain. CADASIL symptoms include recurrent stroke (with paralysis, loss of sensation, unsteady gait, slurred speech), migraine-like headaches, anxiety/mood disorders including depression and apathy, and loss of memory and executive function.  Degeneration of vascular smooth muscle cells leads to reduced cerebral blood flow, progressive cognitive impairment, and eventually vascular dementia (Rutten and Oberstein, 2016). The inheritance pattern for CADASIL is autosomal dominant, meaning that either a mother or father pass the dominant trait to their child with a 50% probability. Symptoms typically present among adults, although age of symptom onset, disease severity, and disease progression vary widely even among family members with the same genetic mutation. Severity of disease and disease progression are believed to vary mostly based on an individual’s lifestyle and exposure to risk factors of stroke (e.g., smoking, lack of exercise, obesity) or other co-morbidities (e.g., diabetes, blood clotting disorders, hyperlipidemia, hypertension). However, genotypic variations of CADASIL (e.g. different mutations or multiple mutations on the Notch 3 gene) and the implication for clinically relevant disease outcomes or disease progression are not well understood. There is currently no prevention or treatment of proven efficacy for CADASIL. Incidence of CADASIL is estimated between 4 to 10 people per 100,000, but is believed to be underdiagnosed or misdiagnosed for a variety of reasons (Rutten and Oberstein, 2016).  Because the genetic test was not available in the US before 2000, CADASIL was commonly misdiagnosed as Multiple Sclerosis, Alzheimer’s Disease, or other neurodegenerative diseases (NINDS, 2016). Lack of awareness of rare diseases among physicians, particularly a relatively new disease such as CADASIL which was discovered in the early 1990s, and the heterogeneity of symptoms and age of symptom presentation also contribute to CADASIL being underdiagnosed.



National Institute of Neurological Disorders and Stroke (NINDS). CADASIL Information Page. Available at: Updated March 3, 2016. Accessed Oct 27, 2016.

Rutten J, Lesnik Oberstein SAJ. CADASIL. 2000 Mar 15 [Updated 2016 Jul 14]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: Accessed Nov 1, 2016.



The Consortium of Multiple Sclerosis Centers

3 University Plaza Drive, Suite 116 Hackensack, NJ 07601

Tel: 201.487.1050 | Fax: 862.772.7275