Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL)
https://pubmed.ncbi.nlm.nih.gov/33425561/
CADASIL (which stands for ‘Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy’ is a rare, inherited type of vascular dementia. This means that CADASIL patients experience memory loss, confusion, behaviour and personality changes due to the presence of a genetic mutation in a gene known as ‘NOTCH3’. The NOTCH3 gene carries instructions for the protein NOTCH3 (Neurogenic locus notch homologue protein 3), which plays an important yet not entirely understood role in the central nervous system (the brain and spinal cord). CADASIL patients also often experience migraine and strokes in a particular region of the brain. In the past, several patients who were previously given a diagnosis of multiple sclerosis were later found to have CADASIL, as a number of symptoms are common between the two conditions. In the scenario described in this article, however, the reverse was found, and a patient with MRI results consistent with a CADASIL diagnosis was in fact found to have multiple sclerosis. Despite the MRI results indicating CADASIL, the patient did not have a mutation in the NOTCH3 gene, nor were they affected by the classical CADASIL symptoms of dementia and migraine. The patient was responded positively to a type of anti-inflammatory therapy. The researchers who conducted this study conclude that, for patients in whom a diagnosis of either CADASIL or multiple sclerosis is being considered due on the basis of MRI results, it may be useful to take into account wider clinical symptoms and the treatment to which a patient is responding. Neurological conditions such as CADASIL and multiple sclerosis are extremely complex, and patients affected by each condition often experience symptoms on a spectrum. The authors of this article suggest the possibility that they have identified a new variant of either multiple sclerosis or CADASIL, or that the patient described in this paper is affected by both conditions. Further research regarding how best to distinguish between multiple sclerosis and CADASIL is needed, but this study will provide a useful case study to future doctors and researchers attempting to understand which treatment and diagnosis to give patients affected by the same symptoms and scan results described in this paper.