伴有皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病（CADASIL）中的认知、情绪和行为
Cognition, mood and behavior in CADASIL.
作者信息
Chabriat Hugues, Lesnik Oberstein Saskia
机构信息
Referral Center for Rare Neurovascular Disorder, Translational Neurovascular Centre and CERVCO, Hopital Lariboisiere, APHP, 2 Rue A Paré, Paris 7010, France; University of Paris and INSERM U1141.
Department of Clinical Genetics, Leiden University Medical Center, The Netherland.
出版信息
Cereb Circ Cogn Behav. 2022 Feb 9;3:100043. doi: 10.1016/j.cccb.2022.100043. eCollection 2022.
Abstract
CADASIL is the most common familial cerebral small vessel disease (cSVD). Stereotyped mutations of the NOTCH3 gene are responsible for this archetypal ischemic cSVD that can lead, at the very end stage, to severe dementia. Variable cognitive alterations, mood, or behavior disturbances are frequently observed during the course of the disease. In this review, these clinical manifestations, their occurrence, severity and duration are analyzed in relation to the disease progression. Also, the potential relationships with cerebral lesions and treatment options are discussed.
摘要
伴有皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病（CADASIL）是最常见的家族性脑小血管病（cSVD）。NOTCH3基因的定型突变是这种典型缺血性cSVD的病因，在疾病的终末期可导致严重痴呆。在疾病过程中经常观察到各种认知改变、情绪或行为障碍。在这篇综述中，分析了这些临床表现、其发生情况、严重程度和持续时间与疾病进展的关系。此外，还讨论了与脑损伤的潜在关系和治疗选择。
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