Suhonen Noora-Maria, Haanpää Ramona M, Korhonen Ville, Jokelainen Jari, Pitkäniemi Anni, Heikkinen Anna-Leena, Krüger Johanna, Hartikainen Päivi, Helisalmi Seppo, Hiltunen Mikko, Hänninen Tuomo, Remes Anne M
Medical Research Center, Oulu University Hospital, Oulu, Finland.
Research Unit of Clinical Neuroscience, Neurology, University of Oulu, Oulu, Finland.
J Alzheimers Dis. 2017;58(2):479-489. doi: 10.3233/JAD-161142.
While the C9ORF72 expansion is a major cause of behavioral variant frontotemporal dementia (bvFTD), little is known of the resultant cognitive profile. Our aim was to characterize the neuropsychological profile of the C9ORF72 associated bvFTD. We contrasted structured neuropsychological assessments of the C9ORF72 expansion carrier bvFTD patients (n = 26) with non-carrier bvFTD patients (n = 47) and those with Alzheimer's disease (AD) (n = 47). As compared to the non-carrier bvFTD patients, the C9ORF72 expansion carriers performed at a higher level in an immediate verbal memory test while showing poorer phonemic verbal fluency. Additionally, the expansion carriers committed more errors in the Stroop test and the Alternating S task relative to the non-carriers. Finally, while the AD patients outperformed both bvFTD patient groups in working memory, their performance was more impaired in episodic memory tasks relative to the bvFTD groups. We conclude that bvFTD patients carrying the C9ORF72 expansion may display more pronounced executive deficits together with less severe verbal memory impairment as compared to their non-carrier bvFTD counterparts. Knowledge of the specific neuropsychological features associated with the C9ORF72 related bvFTD may aid in the early diagnosis of the disease as well as in targeting genetic testing.
虽然C9ORF72基因扩增是行为变异型额颞叶痴呆（bvFTD）的主要病因，但对其导致的认知特征却知之甚少。我们的目的是描述与C9ORF72相关的bvFTD的神经心理学特征。我们将C9ORF72基因扩增携带者bvFTD患者（n = 26）与非携带者bvFTD患者（n = 47）以及阿尔茨海默病（AD）患者（n = 47）的结构化神经心理学评估进行了对比。与非携带者bvFTD患者相比，C9ORF72基因扩增携带者在即时言语记忆测试中的表现更好，但语音言语流畅性较差。此外，与非携带者相比，扩增携带者在Stroop测试和交替S任务中犯的错误更多。最后，虽然AD患者在工作记忆方面的表现优于两个bvFTD患者组，但在情景记忆任务中，他们的表现相对于bvFTD组受损更严重。我们得出结论，与非携带者bvFTD患者相比，携带C9ORF72基因扩增的bvFTD患者可能表现出更明显的执行功能缺陷以及较轻的言语记忆损害。了解与C9ORF72相关的bvFTD的特定神经心理学特征可能有助于该疾病的早期诊断以及靶向基因检测。
