中华神经科杂志
2026年 · 第59卷第02期
中华神经科杂志
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- 神经遗传
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- 病例报告
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- 更正
essential tremor (ET) is one of the most common adult-onset movement disorders, clinically manifested as action tremor of the upper limbs lasting at least 3 years without other neurological abnormalities. Because more than half of ET patients have a family history, genetic factors are considered to play an important role in its etiology, and most families conform to an autosomal dominant inheritance pattern of incomplete explicitness. In recent years, through whole-exon sequencing technology, researchers have identified in a small number of ET familiesFUS、HTRA2AndTENM4Isopathogenic genes.LINGO1Gene variation is the first genetic risk factor for ET discovered through a genome-wide association study. In 2020, Chinese scholars used long-read long-sequencing technology to discover for the first timeNOTCH2NLCCGG repeat extension variation in the 5' untranslated region of a gene can result in an ET phenotype. Despite these advances, there are still a large number of ET families whose genetic etiology is unclear.
Alzheimer's disease (AD) is the most common neurodegenerative disease. There are many theories about the pathogenesis of AD, among which neuroinflammation is the early pathological mechanism of late-onset AD, and its trigger and regulatory factors are not completely clear. In recent years, the role of immune system in the pathogenesis of AD has been gradually paid attention to, but bone marrow, as an important source of immune cells, its mechanism of action in the early stage of AD still needs to be further explored.
In the central nervous system (CNS), astrocyte (AST) affects the development and maintenance of oligodendroglial lineage cells and myelin sheath. chloride voltage-gated channel 2 (ClC-2) is widely expressed in AST and is involved in several important physiopathological processes. chloride voltage-gated channel 2 related leukoencephalopathy (CC2L) is a class of CNS diseases caused by ClC-2 structural or functional dysfunction caused by mutations in CLCN2 gene. However, the current exploration of the pathogenic mechanism and treatment of CC2L is still limited. As the main support cell of the CNS, the role of ClC-2 abnormal AST in the pathogenesis of CC2L needs to be further investigated.
Chinese Journal of Neurology, Volume 58, Issue 12, December 2025, "Guidelines for the Diagnosis and Treatment of Convulsive Status Epilepticus in Chinese Adults (2025 Edition)", page 1 253, left column, line 11, "Intravenous sodium valproate (15~45 mg/kg loading, 20~25 mg · kg-1• d-1Maintain,<6 mg kg-1• min-1) "should be corrected to" intravenous sodium valproate [15~45 mg/kg loading (<6 mg kg-1• min-1), 20-25 mg · kg-1• d-1Maintain] "; Page 1 254 Figure 1 "Sodium valproate (intravenous, 15~45 mg/kg loading, 20~25 mg · kg-1• d-1Maintain,<6 mg kg-1• min-1) "should be corrected to" sodium valproate [intravenous injection, 15~45 mg/kg loading (<6 mg kg-1• min-1), 20-25 mg · kg-1• d-1Maintain] "; On the 15th line of the right column on page 1 255, "Preference is given to waiting for fetal lung maturation at 2 to 32 weeks of pregnancy" should be corrected to "Preference is given to waiting for fetal lung maturation at 25 to 32 weeks of pregnancy".
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