临床表现 临床表现
Carolina Agata Ardohain Cristalli1, Julieta Rosales2, Fabio Gonzalez3
1Fleni, Buenos Aires, Buenos Aires, Argentina.
Alzheimer's & dementia : the journal of the Alzheimer's Association
|December 25, 2025
概括
阿根廷CADASIL注册 (CADASILAr) 建立了第一个拉丁美洲队列,用于脑自体主导动脉病变与皮层下心脏病发作和白脑病变 (CADASIL). 初步发现揭示了常见的临床特征和遗传突变,为未来的研究铺平了道路.
科学领域:
- 神经学 神经学
- 遗传学 遗传学 是一个
- 流行病学 流行病学
背景情况:
- 大脑自体主导动脉病变与下皮层心脏病发作和白脑病变 (CADASIL) 是一种普遍的遗传小血管疾病,导致早期中风和认知障碍.
- 关于CADASIL的拉丁美洲数据有限,需要专注的研究计划.
- 阿根廷CADASIL注册表 (CADASILAr) 成立的目的是整合临床数据,促进国际合作.
研究的目的:
- 介绍CADASIL阿根廷注册表 (CADASILAr) 的队列设计.
- 报告阿根廷CADASIL患者的初步横截面发现.
- 建立一个研究拉丁美洲疾病进展和认知衰退的框架.
主要方法:
- CADASILAr是一个多站点的阿根廷队列研究,具有横截面和纵向阶段.
- 已确认或怀疑CADASIL的成年人 (≥18岁) 被纳入.
- 收集的数据包括人口统计,临床特征,神经成像,遗传学和血管风险因素,并计划进行年度随访和生物银行.
主要成果:
- 从90名患者的初步数据显示,平均年龄为43.8岁,91.6%的人有家族病史.
- 常见的表现包括脑血管事件 (72.9%),认知障碍 (56.7%) 和偏头痛 (69%).
- 在所有确诊病例中都发现了NOTCH3突变,MMSE中位数为28.
结论:
- CADASILAr代表了拉丁美洲第一个对CADASIL的系统研究,也是全球第十二个注册.
- 该注册表提供了一个强大的平台,用于在CADASIL中调查遗传,神经成像和认知结果.
- 它旨在通过综合基线和纵向数据和国际合作来推进研究和理解.
相关概念视频
Chronic Kidney Disease II: Clinical Manifestations
516
Chronic Kidney Disease (CKD) progressively impairs multiple body systems due to the accumulation of uremic toxins, which disrupt cellular functions across various organs.Neurologic symptomsNeurologic symptoms often arise early in CKD, as uremic toxin buildup drives changes in cognitive and motor functions. Patients frequently experience fatigue, headache, confusion, difficulty concentrating, and, in severe cases, seizures. Peripheral neuropathy commonly manifests as burning sensations in the...
516
Coronary Artery Disease III: Clinical Manifestations
295
Coronary Artery Disease (CAD) is a primary health risk worldwide, leading to significant morbidity and mortality. The condition arises from the buildup of atherosclerotic plaques within the coronary arteries, resulting in diminished blood supply to the heart muscle.The clinical manifestations of CAD vary widely, from asymptomatic stages to severe, life-threatening conditions. Understanding these manifestations is crucial for early diagnosis and effective management.Angina Pectoris: The Warning...
295
Endocarditis II: Clinical Features of Infective Endocarditis
358
Endocarditis can present various clinical features depending on the causative organism and the patient's underlying health conditions. Initially, the clinical features of infective endocarditis develop gradually, presenting with nonspecific symptoms that can be easily mistaken for other illnesses.General SymptomsEarly symptoms of infective endocarditis are fever, chills, weakness, malaise, fatigue, and weight loss. These symptoms reflect the systemic nature of the infection and the body's...
358
Heart Failure III: Clinical Manifestations
430
Heart failure (HF) manifests primarily as dyspnea, fatigue, and fluid retention, resulting in peripheral and pulmonary edema. Symptoms may vary depending on which ventricle is more affected, left or right.Left-Sided Heart FailureAlso known as left ventricular failure, this condition results from the left ventricle's inability to fill or eject sufficient blood into the systemic circulation. It leads to pulmonary congestion, which occurs when the left ventricle fails to eject blood effectively...
430
Gastroesophageal Reflux Disease II: Clinical Features and Management
647
Gastroesophageal reflux disease, or GERD, is a persistent medical condition that affects many individuals worldwide. Its clinical manifestations can vary greatly, making diagnosis and management challenging for healthcare professionals. The following is a comprehensive overview of the clinical manifestations, assessment, and management strategies for GERD.
Clinical Manifestations
GERD presents itself in a multitude of ways, with symptoms varying from person to person. The hallmark symptoms are...
Clinical Manifestations
GERD presents itself in a multitude of ways, with symptoms varying from person to person. The hallmark symptoms are...
647
Hypertension III: Clinical Manifestations and Diagnostic Studies
433
Hypertension is asymptomatic and also referred to as the "silent killer" until it progresses to a severe stage or causes target organ disease. Patients may experience symptoms stemming from the strain on blood vessels and tissues in various organs or the heart's increased workload.Physical exams might show no abnormalities other than high blood pressure. Signs of vascular damage, when present, correspond to the organs supplied by the affected vessels, leading to target organ damage. For...
433


