Di Costanzo Alfonso, Santoro Lucio, de Cristofaro Mario, Manganelli Fiore, Di Salle Francesco, Tedeschi Gioacchino
Department of Health Sciences, University of Molise, Via Giovanni Paolo II, 86100 Campobasso, Italy.
Neuromuscul Disord. 2008 Apr;18(4):299-305. doi: 10.1016/j.nmd.2008.01.008. Epub 2008 Mar 11.
This study aimed to determine whether white matter lesions, previously described as a frequent feature in myotonic dystrophy type 1 (DM1), aggregate within DM1 families or are sporadic findings, and to explore the relationship between these lesions and clinical or genetic features. Brain MRI of 60 DM1 patients belonging to 22 families were evaluated and white matter lesions were rated according to a semiquantitative method. Presence and extent of lobar, temporal or periventricular lesions showed a significant association with the family history of lesions and the disease duration, and no association with the CTG repeat size. Furthermore, parent-offspring and sibling pairs showed a significant positive concordance for lesion severity. White matter lesions demonstrate familial aggregation in DM1 and no relationship with CTG repeat length. These findings suggest that other genetic causes and/or unknown environmental factors influence the occurrence and severity of lesions in patients carrying the DM1 genetic defect.
本研究旨在确定先前被描述为1型强直性肌营养不良（DM1）常见特征的白质病变是在DM1家族中聚集还是为散发性发现，并探讨这些病变与临床或遗传特征之间的关系。对属于22个家族的60例DM1患者进行了脑部MRI评估，并根据半定量方法对白质病变进行评分。叶、颞叶或脑室周围病变的存在和范围与病变家族史和病程显著相关，与CTG重复序列大小无关。此外，亲子对和同胞对在病变严重程度上显示出显著正一致性。白质病变在DM1中表现出家族聚集性，且与CTG重复长度无关。这些发现表明，其他遗传原因和/或未知环境因素影响携带DM1基因缺陷患者病变的发生和严重程度。
