Key result
Pregnancy and puerperium are linked to neurologic symptoms in ~48% of CADASIL patients.
Why the study?
Neurologic symptoms during gestation and puerperium in patients with CADASIL and the R133C NOTCH3 mutation were not well characterized.
Observational (n=25)
Answers are grounded in this paper and cite their sources.
Pregnancy neurologic events may herald CADASIL; hypothesis-generating for gestation as symptom trigger in R133C carriers.
Based on a structured questionnaire and medical records, the authors found that 12 of 25 mothers with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) with the R133C NOTCH3 mutation had had neurologic symptoms in 17 of their 43 pregnancies, most commonly hemiparesthesia (76%), hemiparesis (36%), aphasia (65%), and visual disorders (47%). In 82% of the patients, the symptoms were the first manifestation of CADASIL. The symptoms were most common during puerperium and in patients older than age 30.
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Roine et al. (2005) conducted an observational in Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) (n=25). Pregnancy and puerperium was evaluated on Neurologic symptoms during pregnancy or puerperium. Pregnancy and puerperium in mothers with CADASIL triggered neurologic symptoms in 48% of patients (12 of 25), representing the first disease manifestation in 82% of these cases.
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