先天性肌营养不良和FKRP基因突变患者的脑部变化谱

作     者：Mercuri E. Topaloglu H. Brockington M. F. Muntoni 郭俊 

作者机构：Department of Paediatrics Imperial College Hammersmith Hospital Campus Du Cane Road London W12 OHN United Kingdom Dr. 

出 版 物：《世界核心医学期刊文摘（神经病学分册）》 (Digest of the World Core Medical Journals:Clinical Neurology)

年 卷 期：2006年第2卷第6期

页      面：15-16页

学科分类：1002[医学-临床医学] 100214[医学-肿瘤学] 100204[医学-神经病学] 10[医学] 

主　　题：先天性肌营养不良 基因突变 脑部变化 患者 中枢神经系统损害 智力发育迟缓 严重程度 小脑发育不良 结构改变 

摘      要：Objectives: To report the spectrum of brain magnetic resonance imaging findings in 13 patients with congenital muscular dystrophy and FKRP gene mutations and to explore possible genotype-phenotype correlations. Design: We retrospectively reviewed brain magnetic resonance imaging in patients with congenital muscular dystrophy and FKRP gene mutations. Patients: Thirteen patients with congenital muscular dystrophy and mutations in the FKRP gene. Results: Five of the 13 patients had the typical phenotype originally described for congenital muscular dystrophy (MDC1C) with normal intelligence and normal brain magnetic resonance imaging while 3 other patients had isolated cerebellar cysts and mental retardation without any other sign of posterior fossa of supratentorial abnormalities. In the remaining 5 patients cerebellar cysts were associated with structural brain changes involving the posterior fossa and the cortex, ranging from focal unilateral periventricular nodular heterotopia to marked cerebellar dysplasia and pontine hypoplasia. In 2 of these 5 patients the severity and distribution of changes resembled muscle-eye-brain disease in 1 patient who had mild Walker-Warburg syndr ome. The distribution of FKRP gene mutations identified in this group of patients did not reveal any obvious association with the severity of central nervous system involvement. Conclusions: The severity of central nervous system involvement observed in our patients in contrast broadly reflected the severity of the disruption of α-dystroglycan glycosylation. In particular, dystroglycan expression was almost absent in the patients with muscle-eye-brain diseaselike phenotype and less severely reduced in the patients with congenital muscular dystrophy (MDC1C) with or without cerebellar cysts. This study further highlights the central role that dystroglycan has in neuronal migration.