The phenotype and genotype of cerebral autosomal dominant arteriopathy and subcortical infarcts and leukoencephalopathy (CADASIL)
in Caucasians have been well characterized, but CADASIL is less recognized in Asian populations. Here we investigated the first known
Taiwanese family affected by CADASIL and identified an uncommon NOTCH3 mutation. The family had clinical manifestations in affected
members including recurrent strokes, early dementia, and depression, but not migraine. A skin biopsy in the proband patient showed
characteristic pathological findings of CADASIL on electron microscopy. Afterward, genetic analysis found an Arg332Cys mutation at exon
6 ofNOTCH3. Neuropsychological evaluation showed vascular dementia in two of four affected people. Head MRI showed multiple infarcts
in bilateral basal ganglia, thalami, periventricular white matter, external capsules, and brainstem, but involvement of the anterior temporal
pole was found only in two people with milder symptoms. To our knowledge, the Arg332Cys NOTCH3 mutation at exon 6, which was
identified in the studied family, has not been reported in Asian populations. Our findings emphasize the importance of genetic analysis of
NOTCH3 for Asians with a phenotype typical of CADASIL.
關聯:
JOURNAL OF THE NEUROLOGICAL SCIENCES v.228 n.2 pp.125-128
