How often is CADASIL diagnosed as multiple sclerosis? (P4.076)

• DOI: 10.1212/wnl.84.14_supplement.p4.076
• Publication Date: 2023-12-06T23:42:28Z
• Authors: Swati Sathe; Edward Nunziato
• Keywords: CADASIL

OBJECTIVE: Emphasize similarities in clinical and radiologic findings of multiple sclerosis (MS) cerebral autosomal dominant arteriopathy with sub cortical infarcts leukoencephalopathy (CADASIL) order to prevent diagnostic delay. BACKGROUND: CADASIL is hereditary condition causing migraine, strokes dementia. Characteristic cysteine-involving mutation Notch3 simplifies molecular diagnosis. Nonetheless, there remains substantial delay Due presentation risk missed diagnosis considerable. METHODS: Questionnaire was mailed individuals confirmed Data collected regarding onset progression, initial diagnosis, treatment received family history. RESULTS: 35/50 were women; average age 52.6. Average at first symptom 36.1. 28/50 had migraine-like headache (average 24.8) 12/50 46.7) stroke as manifestation. 12.67 years. 33/50 subjects an that not CADASIL: 20/50 diagnosed MS. 8/50 immune modulating for MS 3.86 years; three deferred The duration before the changed 4.23 At time their own 19/50 reported degree member CONCLUSIONS: presents young adults subcortical ischemic events. Clinically, similar MS, these are episodes recurrent acute focal neurologic deficit partial or complete recovery. MRI shows diffuse asymmetric T2 white matter abnormalities periventricular matter. With advent therapy, has become more amenable whereas no CADASIL, which may make clinicians inclined diagnose Close attention must be paid history migraine aura well dementia accurately CADASIL. Study Supported by: We Have Hope Foundation