Cummings Michael A, Arias Ai-Li W, Stahl Stephen M
University of California, Irvine, CA, USA.
University of California, Riverside, CA, USA.
CNS Spectr. 2024 Oct 30;30(1):e13. doi: 10.1017/S1092852924000518.
Schizophrenia spectrum disorders are brain diseases that are developmental dementias (dementia praecox). Their pathology begins in utero with psychosis most commonly becoming evident in adolescence and early adulthood. It is estimated they afflict the U.S. population at a prevalence rate of approximately 0.8%. Genetic studies indicate that these brain diseases are about 80% determined by genes and about 20% determined by environmental risk factors. Inheritance is polygenic with some 270 gene loci having been identified as contributing to the risk for schizophrenia. Interestingly, many of the identified gene loci and gene polymorphisms are involved in brain formation and maturation. The identified genetic and epigenetic risks give rise to a brain in which neuroblasts migrate abnormally, assume abnormal locations and orientations, and are vulnerable to excessive neuronal and synaptic loss, resulting in overt psychotic illness. The illness trajectory of schizophrenia then is one of loss of brain mass related to the number of active psychotic exacerbations and the duration of untreated illness. In this context, molecules such as dopamine, glutamate, and serotonin play critical roles with respect to positive, negative, and cognitive domains of illness. Acutely, antipsychotics ameliorate active psychotic illness, especially positive signs and symptoms. The long-term effects of antipsychotic medications have been debated; however, the bulk of imaging data suggest that antipsychotics slow but do not reverse the illness trajectory of schizophrenia. Long-acting injectable antipsychotics (LAI) appear superior in this regard. Clozapine remains the "gold standard" in managing treatment-resistant schizophrenia.
精神分裂症谱系障碍是一种脑部疾病,属于发育性痴呆(早发性痴呆)。其病理始于子宫内,精神病症状通常在青春期和成年早期最为明显。据估计,美国约有0.8%的人口受其影响。基因研究表明,这些脑部疾病约80%由基因决定,约20%由环境风险因素决定。遗传方式为多基因遗传,约270个基因位点已被确定与精神分裂症风险相关。有趣的是,许多已确定的基因位点和基因多态性都与大脑的形成和成熟有关。已确定的遗传和表观遗传风险导致大脑中神经母细胞迁移异常、位置和方向异常,并易发生过多的神经元和突触损失,从而导致明显的精神病性疾病。精神分裂症的疾病轨迹是与活跃性精神病发作次数和未治疗疾病持续时间相关的脑容量损失。在这种情况下,多巴胺、谷氨酸和血清素等分子在疾病的阳性、阴性和认知领域中发挥着关键作用。急性发作时,抗精神病药物可改善活跃性精神病性疾病,尤其是阳性症状和体征。抗精神病药物的长期效果一直存在争议;然而,大量影像学数据表明,抗精神病药物可减缓但无法逆转精神分裂症的疾病轨迹。长效注射用抗精神病药物(LAI)在这方面似乎更具优势。氯氮平仍然是治疗难治性精神分裂症的“金标准”。