title: 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 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.
authors.affiliation: Department of Neurology, Shengjing Hospital, China Medical University, 36 Sanhao Street, Heping District, Shenyang 110004, Liaoning Province, China. zdm127@tom.com
authors.forename: D M
authors.initials: DM
authors.lastname: Zheng
authors.forename: F F
authors.initials: FF
authors.lastname: Xu
authors.forename: Y
authors.initials: Y
authors.lastname: Gao
authors.forename: H
authors.initials: H
authors.lastname: Zhang
authors.forename: S C
authors.initials: SC
authors.lastname: Han
authors.forename: G R
authors.initials: GR
authors.lastname: Bi
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics; D001921:Brain / Q000378:metabolism / Q000473:pathology* / Q000503:physiopathology; D046589:CADASIL / Q000208:ethnology* / Q000235:genetics* / Q000473:pathology; D025063:Chromosome Disorders / Q000208:ethnology* / Q000235:genetics* / Q000473:pathology; D018450:Disease Progression; D005260:Female; D005808:Genes, Recessive / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation / Q000235:genetics; D010375:Pedigree; D013131:Spine / Q000473:pathology