Adeli Anahita, Savica Rodolfo, Lowe Val J, Vemuri Prashanthi, Knopman David S, Dejesus-Hernandez Mariely, Rademakers Rosa, Fields Julie A, Crum Brian A, Jack Clifford R, Petersen Ronald C, Boeve Bradley F
a Department of Neurology , Mayo Clinic , Rochester , Minnesota.
Neurocase. 2014;20(1):110-20. doi: 10.1080/13554794.2012.732090. Epub 2012 Nov 30.
A hexanucleotide repeat expansion in the chromosome 9 open reading frame 72 (C9ORF72) gene was recently discovered as the cause underlying frontotemporal degeneration (FTD) and/or amyotrophic lateral sclerosis (ALS) linked to chromosome 9 (c9FTD/ALS). In this atypical case of c9FTD/ALS, the proband presented with amnestic mild cognitive impairment which evolved into Alzheimer's disease (AD)-type dementia and later developed ALS. Fluorodeoxyglucose-positron emission tomography of the brain demonstrated mild hypometabolism involving the medial frontal and lateral temporal lobes, left more so than right, which progressed over time. He was subsequently confirmed to have the C9ORF72 expansion. This report highlights the need to consider mutations in the FTD-associated genes when a familial disorder is suggested and neuroimaging studies reveal findings atypical of an AD pathophysiological process despite the typical anterograde amnestic syndrome.
最近发现，9号染色体开放阅读框72（C9ORF72）基因中的六核苷酸重复序列扩增是与9号染色体相关的额颞叶痴呆（FTD）和/或肌萎缩侧索硬化症（ALS）（c9FTD/ALS）的潜在病因。在这个非典型的c9FTD/ALS病例中，先证者表现为遗忘型轻度认知障碍，随后发展为阿尔茨海默病（AD）型痴呆，后来又患上了ALS。脑部氟脱氧葡萄糖正电子发射断层扫描显示，内侧额叶和外侧颞叶轻度代谢减退，左侧比右侧更明显，且随时间进展。随后证实他存在C9ORF72扩增。本报告强调，当提示为家族性疾病且神经影像学研究显示尽管存在典型的顺行性遗忘综合征，但却具有AD病理生理过程的非典型表现时，需要考虑FTD相关基因的突变。
