Staniloiu Angelica, Woermann Friedrich G, Markowitsch Hans J
Physiological Psychology, University of Bielefeld , Bielefeld , Germany ; Hanse Institute of Advanced Science , Delmenhorst , Germany.
MRI Unit, Bethel Epilepsy Center , Bielefeld , Germany.
Front Behav Neurosci. 2014 Jun 25;8:227. doi: 10.3389/fnbeh.2014.00227. eCollection 2014.
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) - is the most common genetic source of vascular dementia in adults, being caused by a mutation in NOTCH3 gene. Spontaneous de novo mutations may occur, but their frequency is largely unknown. Ischemic strokes and cognitive impairments are the most frequent manifestations, but seizures affect up to 10% of the patients. Herein, we describe a 47-year-old male scholar with a genetically confirmed diagnosis of CADASIL (Arg133Cys mutation in the NOTCH3 gene) and a seemingly negative family history of CADASIL illness, who was investigated with a comprehensive neuropsychological testing battery and neuroimaging methods. The patient demonstrated on one hand severe and accelerated deteriorations in multiple cognitive domains such as concentration, long-term memory (including the episodic-autobiographical memory domain), problem solving, cognitive flexibility and planning, affect recognition, discrimination and matching, and social cognition (theory of mind). Some of these impairments were even captured by abbreviated instruments for investigating suspicion of dementia. On the other hand the patient still possessed high crystallized (verbal) intelligence and a capacity to put forth a façade of well-preserved intellectual functioning. Although no definite conclusions can be drawn from a single case study, our findings point to the presence of additional cognitive changes in CADASIL in middle adulthood, in particular to impairments in the episodic-autobiographical memory domain and social information processing (e.g., social cognition). Whether these identified impairments are related to the patient's specific phenotype or to an ascertainment bias (e.g., a paucity of studies investigating these cognitive functions) requires elucidation by larger scale research.
伴有皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病（CADASIL）——是成人血管性痴呆最常见的遗传病因，由NOTCH3基因突变引起。可能会发生自发的新生突变，但其频率很大程度上未知。缺血性卒中和认知障碍是最常见的表现，但癫痫发作影响多达10%的患者。在此，我们描述了一名47岁的男性学者，经基因确诊为CADASIL（NOTCH3基因中的Arg133Cys突变），且CADASIL疾病家族史看似为阴性，对其进行了全面的神经心理学测试组和神经影像学方法检查。一方面，该患者在多个认知领域表现出严重且加速的衰退，如注意力、长期记忆（包括情景 - 自传体记忆领域）、解决问题、认知灵活性和规划、情感识别、辨别和匹配以及社会认知（心理理论）。其中一些损害甚至被用于调查痴呆疑似病例的简化工具检测到。另一方面，该患者仍具备较高的晶体（语言）智力，并有能力呈现出智力功能保存良好的表象。尽管单个病例研究无法得出明确结论，但我们的研究结果表明中年CADASIL患者存在额外的认知变化，特别是情景 - 自传体记忆领域和社会信息处理（如社会认知）方面的损害。这些已确定的损害是与患者的特定表型相关，还是与确定偏倚（例如，缺乏对这些认知功能的研究）有关，需要通过更大规模的研究来阐明。
