Recoverin抗体相关疾病目前仅限于迟发性共济失调和自身免疫性视网膜病变,可以是副肿瘤也可以不是。然而,到目前为止,在同质患者组中尚未报道与recoverin抗体相关的认知功能障碍。我们的病例系列致力于描述与recoverin抗体相关的认知障碍的新表型。在我们的病例系列调查中,我们纳入了5名认知障碍患者,他们通过免疫印迹检测到血清恢复素自身抗体。我们还分析了他们的精神病理学,临床资料,脑脊液(CSF),和神经影像数据。5例与血清恢复素抗体相关的认知障碍患者表现出严重的功能失调学习和言语记忆。在40%的脑脊液中,我们还诊断出轴突神经变性,导致tau和磷酸化tau蛋白水平升高。精神病理学,如情感症状(躁动,抑郁情绪,焦虑,抱怨)和正式的思维障碍,比如沉思,在25-75%的患者中检测到。我们假设松果体中自身免疫恢复的作用涉及由褪黑激素释放改变引起的海马记忆的连续调节。我们描述了认知障碍患者自身免疫可能恢复的新表型。然而,由于所应用的测试策略的诊断有效性较低,因此无法提取明确的诊断线索.应进一步研究与基于海马的记忆调节相关的松果体中恢复抗体自身免疫的可能性。
Recoverin-antibody-related disease is currently restricted to late-onset ataxia and autoimmune retinopathy, which can be paraneoplastic or not. However, cognitive dysfunction associated with recoverin antibodies has not been reported so far in a homogeneous patient group. Our case series is dedicated to describing the novel phenotype of cognitive impairment associated with recoverin antibodies. We included five patients with cognitive impairment who presented serum recoverin autoantibodies detected by immunoblots in our case series investigation. We also analyzed their psychopathology, clinical data, cerebrospinal fluid (CSF), and neuroimaging data. Five patients with cognitive impairment associated with serum recoverin antibodies exhibited profound dysfunctional learning and verbal memory. In the CSF of 40% of them, we also diagnosed axonal neurodegeneration entailing elevated tau and phosphorylated tau protein levels. Psychopathologies such as affective symptoms (restlessness, depressive mood, anxiety, complaintiveness) and formal thought disorder, such as rumination, were detected in 25-75% of the patients. We hypothesized a role of recoverin autoimmunity in the pineal gland involving consecutive modulation of hippocampus-based memory caused by an altered release of melatonin. We describe a novel phenotype of possible recoverin autoimmunity in patients with cognitive impairment. However, no clear diagnostic clues can be extracted because of the low diagnostic validity of the testing strategies applied. The possibility of recoverin antibody autoimmunity in the pineal gland correlating with a modulation of hippocampus-based memory should be further investigated.