@article {SusanP2.244作者= {Byrne苏珊和丹尼尔·拉姆斯登和Dlamini Nomazulu和亨氏Jungbluth}, title = {SIL1-related Marinesco-Sjoegren综合症(MSS)和相关的运动障碍(P2.244)},体积={84}={14}补充数量,elocation-id = {P2.244} ={2015},出版商= {Wolters Kluwer健康,公司代表美国神经病学学会},文摘={目标/背景:Marinesco-Sjoegren综合症(MSS)是一种隐性遗传多系统疾病,是由于在SIL1突变,编码核交换居民内质网伴侣毕普的因素。首页精确的致病机制目前还不清楚,但可能包括自噬,线粒体和核被膜异常。MSS特点是全球发展迟缓,小脑萎缩,共济失调,白内障,肌病变周围神经参与。设计/方法:提供的海量存储系统(MSS)中与运动障碍有关。结果:这个5岁的女孩在中国开放的时代与全球发展迟缓,肌张力减退和软弱。她是一个远亲的中国夫妇的第一个孩子。身高、体重、头围都低于第0.4百分位数。最显著的特征是深刻的面部hypomimia和广义缺乏运动。也有一定的缺点,主要是躯干的运动失调。没有地震。 She was not dysmorphic and had normal eye movements. She subsequently developed cataracts requiring surgical removal and learned to walk with support but remained profoundly bradykinetic. Investigations included a CK of 431 IU/l. CSF neurotransmitters were normal. MRI of the brain revealed cerebellar atrophy. Muscle biopsy featured increase in endomysial connective tissue, abnormal variability in fibre size and occasional fibres with basophilic stippling suggestive of vacuoles, positive for p62 on immunohistochemical stains. Genetic testing revealed a homozygous mutation in SIL1, c.512_513delTT (p.Phe171Ter). Conclusions: We report the first case of MSS associated with a bradykinetic movement disorder. An association with movement disorders such as Parkinson{\textquoteright}s Disease has been recently reported in other multisystem disorders with overlapping clinico-pathological features linked in similar molecular pathways, in particular LYST-related Chediak-Higashi syndrome and EPG5-related Vici syndrome. Taken together, these findings suggest that aberrant neurodevelopment and neurodegeneration are different expressions of related defects in intracellular membrane trafficking and autophagy. Study Supported by: No funding obtained.Disclosure: Dr. Susan has nothing to disclose. Dr. Lumsden has nothing to disclose. Dr. Dlamini has nothing to disclose. Dr. Jungbluth has nothing to disclose.Tuesday, April 21 2015, 7:30 am-12:00 pm}, issn = {0028-3878}, URL = {//www.ez-admanager.com/content/84/14_Supplement/P2.244}, eprint = {//www.ez-admanager.com/content}, journal = {Neurology} }