Neurological and Extra-Neurological Symptoms in Monogenic Cerebral Small Vessel Disease: Diagnostic Implications

doi:10.3969/j.issn.1673-5765.2025.06.015

Abstract

Abstract: Cerebral small vessel disease (CSVD) is a group of neurological diseases with complex etiologies, mainly manifesting as ischemic or hemorrhagic stroke, cognitive impairment, emotional and psychiatric abnormalities, and gait disorders. Neuroimaging features include recent subcortical infarcts, enlarged perivascular spaces, cerebral microbleeds, intracranial hemorrhage, brain atrophy, lacunes of presumed vascular origin, and white matter lesions. Monogenic CSVD represents a rare subtype, accounting for 1% to 5% of all cases, with dozens of pathogenic genes reported to date. In addition to the common clinical and imaging manifestations of CSVD, monogenic CSVD often has specific symptoms, particularly extra-neurological symptoms, which have a strong indicative role in diagnosis. Given the time-consuming and challenging situation of genetic testing for CSVD-related genes, a comprehensive understanding of the neurological and extra-neurological symptoms of monogenic CSVD can facilitate early diagnosis and treatment. This article aims to summarize the neurological symptoms, extra-neurological symptoms, neuroimaging features, and their value for clinical diagnosis in monogenic CSVD.

Key words: Monogenic cerebral small vessel disease; Neurological symptom; Extra-neurological symptom; Neuroimaging

摘要： 脑小血管病（cerebral small vessel disease，CSVD）是一组病因复杂的神经系统疾病，主要表现为缺血或出血性卒中，以及认知功能障碍、精神情感异常和步态障碍等，神经影像学特征包括近期皮质下梗死、血管周围间隙扩大、脑微出血、颅内出血、脑萎缩、血管源性腔隙灶和脑白质病变。单基因CSVD是其中一类罕见的亚型，占全部病因的1%～5%，目前已报道的CSVD致病基因达数十个。除CSVD共同的临床和影像学表现外，单基因CSVD常有特异性的表现，尤其是神经系统外症状，对诊断具有较强的提示作用。鉴于CSVD相关基因的检测分析耗时且具有挑战性，全面认识单基因CSVD的神经系统症状和神经系统外症状将有助于指导其早期诊疗。本文旨在总结单基因CSVD的神经系统症状、神经系统外症状、神经影像学特征及其对临床诊断的价值。

关键词: 单基因脑小血管病; 神经系统症状; 神经系统外症状; 神经影像

CLC Number:

JIANG Junjie, WANG Mengwen, WAN Yan, HU Bo. Neurological and Extra-Neurological Symptoms in Monogenic Cerebral Small Vessel Disease: Diagnostic Implications[J]. Chinese Journal of Stroke, 2025, 20(6): 781-789.

蒋俊杰, 王梦文, 万艳, 胡波. 单基因脑小血管病的神经系统及神经系统外症状：对诊断的提示[J]. 中国卒中杂志, 2025, 20(6): 781-789.

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