肌萎缩侧索硬化合并额颞叶变性的临床、影像与遗传学特点  

Clinical, neuroimaging and genetic profiles of amyotrophic lateral sclerosis with frontotemporai lobe degeneration

作　　者：崔博[1] 崔丽英[1,4] 高晶[1] 牛娜[2] 朱以诚[1] 刘彩燕[1] 袁晶[1] 柳青[1] 乔真[2] 李方[2] 侯波[3] 冯逢[3] 

机构地区：[1]中国医学科学院北京协和医院神经科,100730 [2]中国医学科学院北京协和医院核医学科,100730 [3]中国医学科学院北京协和医院放射科,100730 [4]中国医学科学院神经科学中心

出　　处：《中华神经科杂志》2016年第2期87-92,共6页Chinese Journal of Neurology

基　　金：中德科学研究基金资助项目（GZ876）

摘　　要：目的探讨肌萎缩侧索硬化合并额颞叶变性（amyotrophic lateral sclerosis with frontotemporal lobe degeneration，ALS—FTLD）的临床、影像及遗传学特征。方法对2011年8月至2015年5月来我院就诊的额颞叶变性（FTLD）及其他变性病痴呆患者进行详细体检，可疑构音不清或肢体萎缩无力者均进行肌电图检查，对肌萎缩侧索硬化（ALS）患者进行认知与行为筛查。分析ALS—FTLD患者的影像学资料与基因检测结果。结果共诊断8例患者，4例以性格改变或记忆下降起病，4例以肢体无力或构音不清起病。7例痴呆类型为行为变异型额颞叶痴呆（behavioral variant FTLD，bvFTD），1例为语义性痴呆。肌电图均示广泛神经源性损害，6例结构影像学示额颞叶为主的脑萎缩，2例未见显著脑萎缩，5例行氟脱氧葡萄糖-正电子发射断层扫描检查，均示额叶和（或）颞叶为主的低代谢，NeuroQ分析提示，低代谢脑区集中于双侧额叶。4例患者进行基因筛查，1例发现9号染色体开放阅读框72（C90RF72）基因突变。结论bvFTD是ALS-痴呆的最主要类型，代谢影像学有助于疾病的诊断并且揭示了双侧额叶为主要低代谢区。虽然在中国人群中比较罕见，但C90RF72仍是ALS—FTLD的重要致病基因。Objective To describe the clinical, neuroimaging and genetic profiles of amyotrophic lateral sclerosis with frontotemporal lobe degeneration （ALS-FTLD）. Methods From August 2011 to May 2015, patients with FTLD or other types of neurodegenerative dementia were physically examined in detail and eleetmmyography was performed to those with suspected dysarthria, limb atrophy or weakness. Cognitive and behavioral screenings were performed to all ALS patients. Patients with ALS-FTLD entered further analysis of neuroimaging and genetics. Results Among the 8 patients diagnosed as ALS-FTLD, 4 patients began with personality change or amnesia, while diseases in the remaining 4 cases began with limb weakness or dysarthria. Dementia type of 7 eases was behavioral variant gILD （bvFTD） and 1 case was diagnosed as semantic dementia- Electromyngraphy of all the 8 patients showed diffuse neurngenic changes. Constructional neuroimaging of 6 patients showed cerebral atrophy predominantly in frontal and temporal lobes. Fluorodeoxyglucose-positron emission tomngraphy was conducted in 5 patients, indicating hypometabolism mainly in frontal and （or） tempera] lobes. NeuroQ analysis revealed that bilateral frontal lobes were the most hypometabolic areas for AKS-FTLD. Among 4 patients who underwent genetic screening, 1 patient was C9ORF72 mutation carder. Conduslons bvFl＇D is the major type of dementia in the context of ALS. Metabolic neuroimaging could assist accurate diagnosis, and it reveals that bilateral frontal lobes are the most hypometabelic areas for ALS-FTLD. C9ORF72 gene mutation is an important pathogenic mutation for ALS- FTLD, although it is rare in Chinese population.

关 键 词：肌萎缩侧索硬化 额颞叶变性 肌电描记术 神经显像 细胞遗传学分析 

分 类 号：R744.8[医药卫生—神经病学与精神病学]