Angelman syndrome (AS) is a rare neurodevelopmental disorder characterized by severe mental retardation, microcephaly, speech impairment, frequent epilepsy, EEG abnormalities, ataxic movements, tongue protrusion, bursts of laughter, sleep abruptions, and hyperactivity. AS results from loss of function of the imprinted UBE3A (ubiquitin‐protein ligase E3A) gene on chromosome 15q11–q13, including a mutation on the maternal allele of Ube3a, a large deletion of the maternally inherited chromosomal region 15q11–13, paternal uniparental disomy of chromosome 15q11–13, or an imprinting defect. The Ube3a maternal deleted mouse model recaptured the major phenotypes of AS patients include seizure, learning and memory impairments, sleep disturbance, and motor problems. Owing to the activity‐dependent structural and functional plasticity, dendritic spines are believed as the basic subcellular compartment for learning and memory and the sites where LTP and LTD are induced. Defects of spine formation and dynamics are common among several neurodevelopmental disorders and neuropsychiatric disorders including AS and reflect the underlying synaptopathology, which drives clinically relevant behavioral deficits. This review will summarize the impaired spine density, morphology, and synaptic plasticity in AS and propose that future explorations on spine dynamics and synaptic plasticity may help develop novel interventions and therapy for neurodevelopmental disorders like AS.

中文翻译：

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脊柱问题的特征：如果为Angelman综合征提供新颖的疗法。

Angelman综合征（AS）是一种罕见的神经发育障碍，其特征是严重的智力低下，小头畸形，语言障碍，癫痫发作频繁，EEG异常，共济失调，舌头突出，阵阵笑声，睡眠异常和多动。AS是由于染色体15q11–q13上印记的UBE3A（泛素蛋白连接酶E3A）基因功能丧失而导致的，包括Ube3a的母亲等位基因上的突变，母亲遗传的染色体区域15q11–13的大量缺失，父亲单亲二体性15q11–13号染色体或印记缺陷。Ube3a母本缺失的小鼠模型重获了AS患者的主要表型，包括癫痫发作，学习和记忆障碍，睡眠障碍和运动问题。由于取决于活动的结构和功能可塑性，树突棘被认为是学习和记忆以及诱导LTP和LTD的位点的基本亚细胞区室。脊柱形成和动力学的缺陷在几种神经发育疾病和神经精神疾病（包括AS）中很常见，反映出潜在的突触病理学，这导致了与临床相关的行为缺陷。这篇综述将总结AS中脊柱密度，形态和突触可塑性受损的情况，并提出未来对脊柱动力学和突触可塑性的探索可能有助于开发针对神经发育障碍（如AS）的新型干预措施和疗法。脊柱形成和动力学的缺陷在几种神经发育疾病和神经精神疾病（包括AS）中很常见，反映出潜在的突触病理学，这导致了与临床相关的行为缺陷。这篇综述将总结AS中脊柱密度，形态和突触可塑性受损的情况，并提出未来对脊柱动力学和突触可塑性的探索可能有助于开发针对神经发育障碍（如AS）的新型干预措施和疗法。脊柱形成和动力学的缺陷在几种神经发育疾病和神经精神疾病（包括AS）中很常见，反映出潜在的突触病理学，这导致了与临床相关的行为缺陷。这篇综述将总结AS中脊柱密度，形态和突触可塑性受损的情况，并提出未来对脊柱动力学和突触可塑性的探索可能有助于开发针对神经发育障碍（如AS）的新型干预措施和疗法。