National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

CADASIL

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I was diagnosed with multiple sclerosis (MS) after a spinal tap and MRI. My neurologist ordered genetic testing of NOTCH3, which was positive for CADASIL. Is it possible to have MS and CADASIL? Also, would CADASIL cause lesions on the brain?

The following information may help to address your question:


Is it possible to have multiple sclerosis and CADASIL?

Theoretically, it is possible for an individual to develop both multiple sclerosis and CADASIL.  However, because both conditions are uncommon, it would be extremely unlikely to have both.  It is more likely that an individual has only one of these conditions.  The two conditions can cause similar symptoms, such as changes in brain tissue (lesions) shown on magnetic resonance imaging (MRI), which can complicate the process of arriving at the correct diagnosis.[1][2][3]  

Articles in the medical literature mention that MS is the most common misdiagnosis for individuals with CADASIL.[4]  Several tests may help to clarify which diagnosis is correct: the finding of a NOTCH3 mutation on genetic testing is considered diagnostic of CADASIL; the finding of certain proteins in cerebral spinal fluid from a spinal tab may help establish a diagnosis of MS.[2][3]
Last updated: 3/3/2015

Can CADASIL cause lesions in the brain?

Yes.  CADASIL can cause changes (lesions) in the brain.  CADASIL affects the arteries in the brain, causing them to narrow or break down.  This affects the flow of blood to the brain, reducing the amount of oxygen which is delivered, which can damage brain tissue over time.  Damaged tissue could appear as a lesion on a magnetic resonance imaging (MRI) test.[1][3]
Last updated: 3/3/2015

We hope this information is helpful. We strongly recommend you discuss this information with your doctor. If you still have questions, please contact us.

Warm regards,
GARD Information Specialist

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  1. Rutten J, Lesnik Oberstein SAJ. CADASIL. GeneReviews. 2015; http://www.ncbi.nlm.nih.gov/books/NBK1500/. Accessed 3/3/2015.
  2. Luzzio C. Multiple sclerosis. Medscape Reference. 2014; http://emedicine.medscape.com/article/1146199-overview. Accessed 3/3/2015.
  3. Behrouz R. CADASIL (Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy). Medscape Reference. 2017; http://emedicine.medscape.com/article/1423170.
  4. Kalman B, Leist TP. Familial multiple sclerosis and other inherited disorders of the white matter. Neurologist. 2004; 10(4):201-215. http://www.ncbi.nlm.nih.gov/pubmed/15245586. Accessed 3/3/2015.