Characterization of a Familial Encephalopathy with Neuronal Inclusion Bodies

我们继续探索具有神经丝素包涵体（FENIB）的家族性脑病高危成员的临床、实验室、神经精神病学和影像学特征。在美国国立卫生研究院临床中心，我们已经看到25个人有患这种疾病的风险，并进行了全面的临床评估。该项目的临床方面继续是对处于危险中的家庭成员的自然史的长期探索。这将增加我们对FENIB的病理生理学和临床表现的认识。这些家庭不仅提供了丰富的临床见解，而且有机会了解围绕晚发性神经退行性疾病的症状前检测的争议。进一步的临床描述，适当的诊断和管理策略以及咨询需求的评估仍然是这个项目的临床目标。在Muenke博士的指导下，Lacbawan博士目前正在开发FENIB小鼠模型，这将进一步帮助阐明表型和基因型变异以及可能的治疗方案。

We continue to explore the clinical, laboratory, neuropsychiatric and imaging features of at-risk members of families with FamilialEncephalopathy with Neuroserpin Inclusion Bodies (FENIB). At the NIH Clinical Center we have seen 25 individuals at risk for this disorder for full clinical evaluations. The clinical facet of this project continues to be a long term exploration of the natural history of family members at risk. This will increase our insight into the pathophysiology and clinical presentation of FENIB. These families provide not only rich clinical insight but the opportunity to understand the controversy surrounding presymptomatic testing in late onset neurodegenerative disorders. Further clinical delineation, appropriate diagnostic and management strategies and assessment of counselling needs remain the clinical goals for this project. Dr. Lacbawan is currently developing a mouse model for FENIB which will further help to elucidate the phenotype and genotypic variation and possible therapeutic options under the direction of Dr. Muenke.