Mutation of the Notch 3 Gene in a Thai Cerebral Auto
somal Dominant Arteriopathy with Subcortical Infarcts
and Leukoencephalopathy Family
NIJASRI SUWANWELA, MD*, ANAN SRIKIATKHACHORN,MD**,
SOOKCHAROEN TANGWONGCHAI, MD***, KAMMANT PHANTHUMCHINDA, MD*,
NIT A Y A SUWA NWELA, MD****
Affiliation : * Neurological Unit, Department of Medicine,
** Department of Physiology,
*** Department of Psychiatry,
****Department of Radiology, Faculty of Medicine, Chulalongkom University, Bangkok 10330, Thailand.
AbstractThe authors report the first Thai family with cerebral autosomal dominant arteriopathy with
subcortical infarcts and leukoencephalopathy (CADASIL) in which the family members had a classical
history of progressive vascular dementia. The proband was a 31-year old Thai male who presented
with an acute stroke in the subcortical region. His past history revealed mental disturbance, including
poor judgement and regressive behavior as well as mood changes for 1 year. He did not have a history
of migraine or any other vascular risk factors except for a strong family history of ischemic stroke
and progressive dementia. Magnetic resonance imaging demonstrated multiple small infarctions in the
subcortical white matter of the bilateral frontal, parietal and occipital lobes with another small lesion in
the pons. Genetic study demonstrated a Notch 3 mutation consisting of the substitution of a nucleotide
at position 406 in exon 3 leading to the replacement of an Arginine by Cysteine at position 110 in the
2"d EGF motif, which is compatable with CADASIL.
Keywords : CADASIL, Ischemic Stroke, Dementia, Genetics
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