Chamard Ludivine, Ferreira Sabrina, Pijoff Alexa, Silvestre Manon, Berger Eric, Magnin Eloi
University Hospital of Besançon, CH Jean Minjoz, Besançon, France.
Regional Hospital of Dole, CH Louis Pasteur, Dole, France.
Behav Neurol. 2016;2016:6423461. doi: 10.1155/2016/6423461. Epub 2016 Sep 4.
. To describe cognitive assessment including social cognition in SPG4 patients. . We reported a series of nine patients with SPG4 mutation with an extensive neuropsychological examination including social cognition assessment. . None of our patients presented with mental retardation or dementia. All presented with mild cognitive impairment with a high frequency of attention deficit (100%), executive disorders (89%), and social cognition impairment (78%). An asymptomatic patient for motor skills presented with the same cognitive profile. No correlation was found in this small sample between cognitive impairment and motor impairment, age at disease onset, or disease duration. . SPG4 phenotypes share some cognitive features of frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Cognitive disorders including executive disorders and social cognition impairment are frequent in SPG4 patients and might sometimes occur before motor disorders. Therefore, cognitive functions including social cognition should be systematically assessed in order to improve the clinical management of this population.
描述痉挛性截瘫4型（SPG4）患者的认知评估，包括社会认知。我们报告了一系列9例携带SPG4突变的患者，他们接受了包括社会认知评估在内的广泛神经心理学检查。我们的患者均未出现智力发育迟缓或痴呆。所有患者均表现为轻度认知障碍，注意力缺陷（100%）、执行功能障碍（89%）和社会认知障碍（78%）的发生率很高。一名运动技能无症状的患者也表现出相同的认知特征。在这个小样本中，未发现认知障碍与运动障碍、疾病发病年龄或病程之间存在相关性。SPG4的表型具有额颞叶变性和肌萎缩侧索硬化的一些认知特征。认知障碍，包括执行功能障碍和社会认知障碍，在SPG4患者中很常见，有时可能在运动障碍之前出现。因此，应系统评估包括社会认知在内的认知功能，以改善对这一人群的临床管理。
