Tuesday, April 14, 2009

CADASIL notes

Major criteria-- headaches, migraine, mood disorder, stroke, tia
Other neurologic --epilepsy, scord infarcts, ICH, episodic increased ICP
path-- osmiophilic granular deposits on vascular basal lamina
increased oxygen extraction rate
notch 3 protein beneficial
thalamic predominance
cerebral microbleeds
CSF may have mild increase protein, otherwise normal
prenanatal testing available with CVS or amnio
chr 19, 50 + mutations
cysteine residue mutation

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