Wilder-Smith E, Shen Y, Ng Y K, Yu G X, Chew N K, Tan C T, Wong M C
Division of Neurology, National University of Singapore, Singapore.
J Clin Neurosci. 2004 Apr;11(3):304-7. doi: 10.1016/j.jocn.2003.05.007.
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.
我们描述了首个患有伴有皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病（CADASIL）的中国家庭的临床、放射学、遗传学及皮肤活检结果。在这个延续三代、共43名成员的家族谱系中，有8人具有CADASIL的典型临床特征，表现为复发性缺血性中风。在三名存活的患病家庭成员中，脑部磁共振成像（MRI）显示广泛的脑白质疏松。基因分型显示，第3外显子核苷酸406处存在C到T的杂合突变。不寻常的临床特征包括以小脑梗死为首发症状以及发病较晚，69岁时症状较轻。一个新发现是，皮肤活检中所见的超微结构特征性嗜锇颗粒物质（GOM）的数量与临床疾病严重程度之间存在直接关联。
