Anor Cassandra J, Xi Zhengrui, Zhang Ming, Moreno Danielle, Sato Christine, Rogaeva Ekaterina, Tartaglia Maria Carmela
Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario, Canada.
Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario, Canada; Division of Neurology, Department of Medicine, University of Toronto, Toronto, Ontario, Canada.
Neurobiol Aging. 2015 Oct;36(10):2905.e1-5. doi: 10.1016/j.neurobiolaging.2015.06.008. Epub 2015 Jun 12.
Corticobasal syndrome (CBS) is a neurodegenerative disease characterized by progressive asymmetrical rigidity and apraxia, cortical sensory loss, myoclonus, dystonia, and cognitive impairment. CBS is usually sporadic and associated with tau pathology but there are reports of TDP-43 pathology. We screened 39 CBS cases to determine if any of the cases could be explained by a G4C2-repeat expansion in a noncoding region of C9orf72 gene, the most common genetic cause of frontotemporal lobar degeneration and amyotrophic lateral sclerosis. One patient with CBS had a large (>50 repeats) expansion in C9orf72. Our case features a 63-year-old right-handed woman who developed mild apathy 9 years before presentation, which progressed to include behavioral symptoms, oral stereotypies, significant language impairment, parkinsonism and apraxia. A magnetic resonance imaging acquired at age 60 years, that is, 6 years after disease onset revealed significant asymmetric left > right frontotemporal atrophy, including orbitofrontal and parietal areas. Her father developed a behavioral syndrome and died at an early age. This case highlights the importance of genetic screening for C9orf72 in patients with CBS.
皮质基底节综合征（CBS）是一种神经退行性疾病，其特征为进行性不对称性强直和失用、皮质感觉丧失、肌阵挛、肌张力障碍及认知障碍。CBS通常为散发性，与tau病理改变相关，但也有TDP-43病理改变的报道。我们对39例CBS病例进行了筛查，以确定是否有任何病例可由9号染色体开放阅读框72（C9orf72）基因非编码区的G4C2重复扩增来解释，这是额颞叶痴呆和肌萎缩侧索硬化最常见的遗传病因。1例CBS患者的C9orf72基因存在大片段（>50次重复）扩增。我们的病例是一名63岁的右利手女性，在就诊前9年出现轻度淡漠，随后进展为包括行为症状、口部刻板动作、明显的语言障碍、帕金森综合征和失用。患者60岁时（即发病6年后）进行的磁共振成像显示明显的不对称性左侧>右侧额颞叶萎缩，包括眶额和顶叶区域。她的父亲患有行为综合征并早逝。该病例凸显了对CBS患者进行C9orf72基因筛查的重要性。
