Kathryn Yang, Vicente Quiroz, Amy Tam, Rasha Srouji, Ximena Villanueva, Claudia Amarales, Darius Ebrahimi-Fakhari
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引用次数: 0
Abstract
Juvenile-onset Huntington's disease (HD) is a rare subset of HD with symptom-onset before the age of 18. In contrast to the adult population, children present early-on with behavioral, psychiatric, and cognitive symptoms, in addition to a diverse spectrum of movement disorders. This poses a distinct challenge in diagnosis and management. We here describe the spectrum of movement disorders, accompanied with detailed video recordings, in seven cases of juvenile-onset HD. Our findings highlight early cognitive and behavioral symptoms, preceding motor symptoms. The diverse movement disorder phenotypes included dystonia, Parkinsonism, myoclonus, and chorea, findings which underscore the heterogeneity of presenting symptoms.
青少年型亨廷顿氏病(HD)是一种罕见的亚型亨廷顿氏病,症状在18岁之前出现。与成人不同的是,儿童在发病初期会出现行为、精神和认知症状,此外还伴有各种运动障碍。这给诊断和管理带来了独特的挑战。我们在此通过详细的视频记录,描述了七例青少年型 HD 患者的运动障碍谱。我们的发现突出了运动症状之前的早期认知和行为症状。运动障碍的表型多种多样,包括肌张力障碍、帕金森氏症、肌阵挛和舞蹈症,这些发现强调了表现症状的异质性。
期刊介绍:
Annals of Clinical and Translational Neurology is a peer-reviewed journal for rapid dissemination of high-quality research related to all areas of neurology. The journal publishes original research and scholarly reviews focused on the mechanisms and treatments of diseases of the nervous system; high-impact topics in neurologic education; and other topics of interest to the clinical neuroscience community.