PDF(Pubmed)
Abstract：
Movement disorders such as bradykinesia, tremor, dystonia, chorea, and myoclonus most often arise in several neurodegenerative diseases with basal ganglia and white matter involvement. While the pathophysiology of these disorders remains incompletely understood, dysfunction of the basal ganglia and related brain regions is often implicated. The VPS13D gene, part of the VPS13 family, has emerged as a crucial player in neurological pathology, implicated in diverse phenotypes ranging from movement disorders to Leigh syndrome. We present a clinical case of VPS13D-associated disease with two variants in the VPS13D gene in an adult female. This case contributes to our evolving understanding of VPS13D-related diseases and underscores the importance of genetic screening in diagnosing and managing such conditions.
摘要：
运动障碍，如运动迟缓，震颤,肌张力障碍,舞蹈病,和肌阵挛症最常见于几种神经退行性疾病，伴有基底神经节和白质受累。虽然这些疾病的病理生理学仍未完全了解，经常涉及基底神经节和相关大脑区域的功能障碍。VPS13D基因,VPS13家族的一部分，已经成为神经病理学的关键人物，涉及从运动障碍到Leigh综合征的各种表型。我们在成年女性中介绍了VPS13D相关疾病的临床病例，其中VPS13D基因有两个变异。此病例有助于我们对VPS13D相关疾病的不断发展的理解，并强调了遗传筛查在诊断和管理此类疾病中的重要性。
