Rede Sarah de Hospitais de Reabilitação, Rio de Janeiro RJ, Brazil.
Rede Sarah de Hospitais de Reabilitação, Brasília DF, Brazil.
Arq Neuropsiquiatr. 2023 May;81(5):417-425. doi: 10.1055/s-0042-1758756. Epub 2023 May 8.
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a genetic cause of ischemic stroke and the most common form of non-atherosclerotic stroke. Despite being the most prevalent vascular hereditary disease, clinical data regarding the Brazilian population are scarce. Considering that the Brazilian population has one of the most heterogeneous genetic constitutions in the world, knowledge about genetic and epidemiological profiles is mandatory. The present study aimed to elucidate the epidemiological and clinical features of CADASIL in Brazil.
We performed a case series study comprising 6 rehabilitation hospitals in Brazil and reported the clinical and epidemiological data from the medical records of patients admitted from 2002 to 2019 with genetic confirmation.
We enrolled 26 (16 female) patients in whom mutations in exons 4 and 19 were the most common. The mean age at the onset of the disease was of 45 years. Ischemic stroke was the first cardinal symptom in 19 patients. Cognitive impairment, dementia, and psychiatric manifestations were detected in 17, 6, and 16 patients respectively. In total, 8 patients had recurrent migraines, with aura in 6 (75%) of them. White matter hyperintensities in the temporal lobe and the external capsule were found in 20 (91%) and 15 patients (68%) respectively. The median Fazekas score was of 2. Lacunar infarcts, microbleeds, and larger hemorrhages were observed in 18 (82%), 9, and 2 patients respectively.
The present is the most extensive series of Brazilian CADASIL patients published to date, and we have reported the first case of microbleeds in the spinal cord of a CADASIL patient. Most of our clinical and epidemiological data are in accordance with European cohorts, except for microbleeds and hemorrhagic strokes, for which rates fall in between those of European and Asian cohorts.
伴有皮质下梗死和白质脑病的脑常染色体显性动脉病（CADASIL）是缺血性卒中的一种遗传病因，也是最常见的非动脉粥样硬化性卒中类型。尽管 CADASIL 是最普遍的血管遗传性疾病，但针对巴西人群的临床数据却很少。鉴于巴西人群拥有世界上最多样化的遗传构成之一，了解遗传和流行病学特征是必不可少的。本研究旨在阐明巴西 CADASIL 的流行病学和临床特征。
我们进行了一项病例系列研究，纳入了巴西的 6 家康复医院，并报告了 2002 年至 2019 年期间基因确诊、住院患者的临床和流行病学数据。
我们纳入了 26 名（16 名女性）患者，其中最常见的突变位于外显子 4 和 19。疾病发病的平均年龄为 45 岁。19 名患者的首发症状为缺血性卒中。认知障碍、痴呆和精神表现分别在 17、6 和 16 名患者中被发现。共有 8 名患者出现复发性偏头痛，其中 6 名（75%）有先兆。20 名（91%）和 15 名（68%）患者分别存在颞叶和外囊的脑白质高信号。Fazekas 评分中位数为 2。18 名（82%）患者存在腔隙性梗死，9 名和 2 名患者存在微出血和较大出血。
本研究是迄今为止发表的关于巴西 CADASIL 患者的最广泛系列研究，并且我们报告了首例 CADASIL 患者脊髓微出血病例。除微出血和出血性卒中外，我们的大部分临床和流行病学数据与欧洲队列一致，微出血和出血性卒中外的发生率介于欧洲和亚洲队列之间。
