Please use this identifier to cite or link to this item: https://doi.org/10.1016/j.jocn.2003.05.007
Title: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) in a Chinese family: Clinical, radiological and skin biopsy features
Authors: Wilder-Smith, E. 
Shen, Y.
Yu, G.X.
Wong, M.C.
Ng, Y.K. 
Chew, N.K.
Tan, C.T.
Keywords: Asia
CADASIL
Cerebrovascular accident
Dementia
Notch 3 gene
Singapore
Skin biopsy
Issue Date: 2004
Source: Wilder-Smith, E., Shen, Y., Yu, G.X., Wong, M.C., Ng, Y.K., Chew, N.K., Tan, C.T. (2004). Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) in a Chinese family: Clinical, radiological and skin biopsy features. Journal of Clinical Neuroscience 11 (3) : 304-307. ScholarBank@NUS Repository. https://doi.org/10.1016/j.jocn.2003.05.007
Abstract: We describe the clinical, radiological, genetic and skin biopsy findings of the first Chinese family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Of the 43-member family tree extending over three generations, eight had typical clinical features of CADASIL with recurrent ischemic stroke. In the three surviving affected family members, brain MRI showed extensive leukoaraiosis. Genotyping revealed heterozygous C to T mutation at nucleotide 406 in exon 3. Unusual clinical features were cerebellar infarction as a presenting complaint and a late age of onset with mild symptoms at age 69. A novel finding is the suggestion of a direct correlation between clinical disease severity and the quantity of ultrastructural pathognomonic granular osmophilic material (GOM) seen on skin biopsy. © 2003 Elsevier Ltd. All rights reserved.
Source Title: Journal of Clinical Neuroscience
URI: http://scholarbank.nus.edu.sg/handle/10635/33933
ISSN: 09675868
DOI: 10.1016/j.jocn.2003.05.007
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