At the initial outpatient office visit 2 months after her emergency room presentation, the patient remained headache-free. When pressed for family history,

the patient stated that her mother had “white stuff in the brain,” suffered from frequent headaches, depression, and had recently been evaluated for cognitive decline. She also recalled that her maternal grandmother had suffered from dementia with onset after age 80. As her longitudinal clinical course and neuroimaging were suggestive of CADASIL, genetic testing for neurogenic locus notch homolog protein 3 (NOTCH3) gene was obtained. She tested positive for a deoxyribonucleic acid sequence alteration in the NOTCH3 gene located on the short arm of chromosome 19 that has been reported as a CADASIL-associated mutation. CADASIL is the Pirfenidone solubility dmso most common heritable cause of stroke and vascular dementia in adults, accounting for 2% of cases of lacunar stroke and leukoaraoisis in patients younger than 65 years and for 11.1% of cases in patients younger than 50 years.[22, 23] The overall prevalence is not well known. A small study from Scotland estimated that 4.14/100,000 cases were predicted mutation carriers and 1.98/100,000 cases have the definitive diagnosis.[24] Another www.selleckchem.com/products/Adriamycin.html small study from western England provided similar results, estimating the minimum prevalence of definite cases as 1.32/100,000,

and the minimum prevalence of mutation carriers to be 4.10/100,000.[25] The prevalence may be higher, however, as sporadic cases have been reported.[26] Additionally, there is marked intrafamilial phenotypic variability, which may lead to under recognition of this disorder.[27] Although the clinical presentation of CADASIL can vary widely, it is characterized by 4 main symptoms: migraine with aura, subcortical

ischemic events, mood disturbance, and cognitive impairment. The most frequent initial symptoms include migraine with aura and subcortical ischemic events. Symptom onset is typically in the fourth or fifth decade of life, but when the presenting symptom is migraine with aura, the age of onset is often younger, often in the third decade of life.27-29 There may be a gender difference in symptom expression in CADASIL patients, see more with migraine with aura being more prevalent in women and stroke being more prevalent in men younger than 51 years, a difference that seems to subsequently disappear in older patients. Age at first stroke, the number of stroke events, and the prevalence of dementia and psychiatric symptoms, however, does not seem to differ between men and women.[30] As exhibited by our patient, pregnancy and the puerperium appear to be a particularly vulnerable time for manifestation of neurological symptoms in CADASIL patients, and many patients may have their initial manifestation of CADASIL during this period.