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Washington University Experience | MYELIN (NON-IMMUNE MEDIATED) | CADASIL | 11F Case 11 Denouement
Comment: Since her biopsy the patient has made partial clinical recovery and her September MRIs were stable. There may have been a superimposed acute CNS demyelinating event triggered by the vaccine against the background of CADASIL. In addition, the patient had a high MOG titer. She was placed on a slow steroid treatment for several months with interval surveillance. Molecular genetic studies showed this patient has a mutation in the NOTCH3 gene [c.1305T>G (p.Cys435Trp)] which is thought to result in accumulation of a form of the NOTCH3 protein as GOMs.
