A Chinese pedigree of cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL): Clinical and radiological features

Abstract Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is a rare hereditary cerebral vascular disease thought to be confined to Japan. This paper reports a Chinese pedigree of CARASIL in which two patients exhibited all of the typical clinical...

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Bibliographic Details
Published in:Journal of clinical neuroscience 2009-06, Vol.16 (6), p.847-849
Main Authors: Zheng, D.M, Xu, F.F, Gao, Y, Zhang, H, Han, S.C, Bi, G.R
Format: Article
Language:English
Subjects:
Adult
Asian Continental Ancestry Group - genetics
Brain - metabolism
Brain - pathology
Brain - physiopathology
CADASIL - ethnology
CADASIL - genetics
CADASIL - pathology
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
Cerebral vascular disease
Chromosome Disorders - ethnology
Chromosome Disorders - genetics
Chromosome Disorders - pathology
Disease Progression
Female
Genes, Recessive - genetics
Genetic Predisposition to Disease - genetics
Humans
Magnetic Resonance Imaging
Male
MRI
Mutation - genetics
Neurology
Pedigree
Spine - pathology
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Summary:Abstract Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is a rare hereditary cerebral vascular disease thought to be confined to Japan. This paper reports a Chinese pedigree of CARASIL in which two patients exhibited all of the typical clinical features of the disease. The radiological features are also discussed and compared with those of CADASIL. These cases illustrate the unique clinical and radiological features of CARASIL and challenge the idea that CARASIL is limited to the Japanese population.
ISSN:0967-5868
1532-2653
DOI:10.1016/j.jocn.2008.08.031