Devenney E, Foxe D, Dobson-Stone C, Kwok J B, Kiernan M C, Hodges J R
a Neuroscience Research Australia , Sydney , NSW , Australia.
Neurocase. 2015;21(4):535-41. doi: 10.1080/13554794.2014.951058. Epub 2014 Aug 20.
The C9orf72 genetic mutation represents the most common cause of familial frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). Studies over the last 2 years have revealed a number of key features of this mutation in the fields of clinical neurology, imaging, pathology, and genetics. Despite these efforts, the clinical phenotype appears to extend beyond FTD and ALS into the realm of psychiatric disease, and while highly variable survival rates have been reported, the clinical course of carriers remains relatively unexplored. This report describes two contrasting C9orf72 cases, one with a protracted indolent course dominated by neuropsychiatric features and the other with a rapidly progressive dementia. In both cases, initial structural brain imaging was relatively normal.
C9orf72基因突变是家族性额颞叶痴呆（FTD）和肌萎缩侧索硬化症（ALS）最常见的病因。过去两年的研究揭示了该突变在临床神经学、影像学、病理学和遗传学领域的一些关键特征。尽管做出了这些努力，但临床表型似乎超出了FTD和ALS的范围，延伸到了精神疾病领域，而且虽然报告的生存率差异很大，但携带者的临床病程仍相对未被探索。本报告描述了两个形成对比的C9orf72病例，一个病程迁延缓慢，以神经精神特征为主，另一个则是快速进展性痴呆。在这两个病例中，最初的脑部结构成像相对正常。
