Byrne Susan, Dlamini Nomazulu, Lumsden Daniel, Pitt Matthew, Zaharieva Irina, Muntoni Francesco, King Andrew, Robert Leema, Jungbluth Heinz
Department of Paediatric Neurology, Evelina's Children Hospital, Guy's & St. Thomas' Hospital NHS Foundation Trust, London, UK.
Department of Neurophysiology, Great Ormond Street Hospital for Children, London, UK.
Neuromuscul Disord. 2015 Jul;25(7):585-8. doi: 10.1016/j.nmd.2015.04.003. Epub 2015 Apr 14.
Marinesco-Sjoegren syndrome (MSS) is a recessively inherited multisystem disorder caused by mutations in SIL1 and characterized by cerebellar atrophy with ataxia, cataracts, a skeletal muscle myopathy, and variable degrees of developmental delay. Pathogenic mechanisms implicated to date include mitochondrial, nuclear envelope and lysosomal-autophagic pathway abnormalities. Here we present a 5-year-old girl with SIL1-related MSS and additional unusual features of an associated motor neuronopathy and a bradykinetic movement disorder preceding the onset of ataxia. These findings suggest that an associated motor neuronopathy may be part of the phenotypical spectrum of SIL1-related MSS and should be actively investigated in genetically confirmed cases. The additional observation of a bradykinetic movement disorder suggests an intriguing continuum between neurodevelopmental and neurodegenerative multisystem disorders intricately linked in the same cellular pathways.
Marinesco-Sjögren综合征（MSS）是一种由SIL1基因突变引起的隐性遗传性多系统疾病，其特征为小脑萎缩伴共济失调、白内障、骨骼肌肌病以及不同程度的发育迟缓。迄今为止涉及的致病机制包括线粒体、核膜和溶酶体自噬途径异常。在此，我们报告一名5岁女童，患有与SIL1相关的MSS，并伴有共济失调发作前的运动神经元病和运动徐缓性运动障碍等其他不寻常特征。这些发现表明，相关的运动神经元病可能是与SIL1相关的MSS表型谱的一部分，在基因确诊的病例中应积极进行研究。运动徐缓性运动障碍的额外观察结果提示，在神经发育和神经退行性多系统疾病之间存在着一个有趣的连续体，它们在相同的细胞途径中错综复杂地联系在一起。
