Adams Heather R, Mink Jonathan W
University of Rochester Batten Center Study Group, University of Rochester School of Medicine and Dentistry, Department of Neurology, Rochester, New York, NY, USA.
J Child Neurol. 2013 Sep;28(9):1128-36. doi: 10.1177/0883073813494813.
Juvenile neuronal ceroid lipofuscinosis is a childhood-onset neurodegenerative disease with prominent symptoms comprising a pediatric dementia syndrome: intellectual decline, mood and behavioral impairments, and loss of adaptive skills. We review the history of neurobehavioral features in juvenile neuronal ceroid lipofuscinosis and the work of the University of Rochester Batten Center to characterize the extent and progression of neurobehavioral symptoms over the disease course, and discuss the relevance of neurobehavioral studies as an aid to understanding the clinical phenotype of juvenile Batten disease and potential targets for intervention.
青少年神经元蜡样脂褐质沉积症是一种起病于儿童期的神经退行性疾病,其突出症状包括小儿痴呆综合征:智力衰退、情绪和行为障碍以及适应性技能丧失。我们回顾了青少年神经元蜡样脂褐质沉积症神经行为特征的历史以及罗切斯特大学巴顿中心为描述疾病过程中神经行为症状的程度和进展所做的工作,并讨论了神经行为研究对于理解青少年巴顿病临床表型及潜在干预靶点的相关性。