叉头框G1基因单倍体不足：婴儿运动障碍性脑病的一个新出现的病因。
Forkhead box G1 gene haploinsufficiency: an emerging cause of dyskinetic encephalopathy of infancy.
作者信息
Bertossi Chiara, Cassina Matteo, Cappellari Ambra, Toldo Irene, Nosadini Margherita, Rigon Chiara, Suppiej Agnese, Sartori Stefano
机构信息
Child Neurology Unit, Department of Woman's and Child's Health, University Hospital of Padua, Padua, Italy.
Clinical Genetics Unit, Department of Woman's and Child's Health, University Hospital of Padua, Padua, Italy.
出版信息
Neuropediatrics. 2015 Feb;46(1):56-64. doi: 10.1055/s-0034-1395345. Epub 2015 Jan 7.
BACKGROUND
14q12 deletions, including the Forkhead Box G1 (FOXG1) gene and point mutations of this gene, are associated with a complex encephalopathy described as a congenital variant of Rett syndrome. A mixture of jerks, athetosis, chorea, and dystonia is observed early in life in many patients. The aim of this article is to report on the spectrum of movement disorders associated with FOXG1 haploinsufficiency, as described in the literature.
PATIENTS AND METHODS
We provide a review of the cases reported in the literature, adding two new patients. We searched for a comprehensive set of clinical features, including age at onset and semiology of the movement disorder, occurrence and type of stereotypies, and neurological outcome.
RESULTS
A total of 51 cases were included in our study. Nonepileptic abnormal movements occurred in 33 cases, often variably combined and presenting during the first year of life.
CONCLUSION
The neurological phenotype of FOXG1 haploinsufficiency shows the features of a dyskinetic encephalopathy of infancy.
背景
14q12缺失，包括叉头框G1（FOXG1）基因及该基因的点突变，与一种被描述为雷特综合征先天性变异型的复杂脑病相关。许多患者在生命早期会出现抽动、手足徐动症、舞蹈症和肌张力障碍的混合症状。本文旨在报告文献中所描述的与FOXG1单倍体不足相关的运动障碍谱。
患者与方法
我们对文献报道的病例进行了综述，并新增了两名患者。我们全面搜索了一系列临床特征，包括发病年龄、运动障碍的症状学、刻板动作的发生情况及类型，以及神经学转归。
结果
我们的研究共纳入51例病例。33例出现非癫痫性异常运动，常为多种症状混合出现，且在出生后第一年出现。
结论
FOXG1单倍体不足的神经学表型表现为婴儿期运动障碍性脑病的特征。
Zotero 插件