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世界核心医学期刊文摘（神经病学分册） 2006年第6期2卷 15-16页

作者： Mercuri E. Topaloglu H. Brockington M. F. Muntoni 郭俊 Department of Paediatrics Imperial College Hammersmith Hospital Campus Du Cane Road London W12 OHN United Kingdom Dr.

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.

关键词：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

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