Singhal Sumeet, Rich Philip, Markus Hugh S
Department of Clinical Neuroscience, St. George's Hospital Medical School, St. George's Hospital, London, United Kingdom.
AJNR Am J Neuroradiol. 2005 Nov-Dec;26(10):2481-7.
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a condition causing recurrent subcortical strokes. MR imaging, which shows focal lacunar infarcts and leukoaraiosis, plays a central role in the diagnosis and evaluation. We studied MR imaging abnormalities in a large prospectively recruited cohort of CADASIL patients to describe the spatial distribution of abnormalities, determine how this distribution alters with age, and identify any correlations with the clinical features of the disease.
In this study, 112 CADASIL subjects from 64 families were prospectively recruited. MR imaging scans were graded by a single neuroradiologist, by using the modified Scheltens scale, to quantify the severity of high-signal-intensity changes in different brain regions.
Lesion load increased progressively with age. Scores were maximal in the frontal, parietal, and anterior temporal cortex, and the external capsule; intermediate in the pons; and relatively low in the corpus callosum, caudate, globus pallidus, cerebellum, midbrain, and medulla. Anterior temporal pole involvement was common at all ages and, when present, usually confluent, but this was absent in 33% of patients 20-29 years of age. A history of stroke correlated with total Scheltens score and internal capsule and pontine scores. Dementia correlated with total Scheltens score and subcortical white matter score, whereas depression correlated with subcortical white matter score but not total Scheltens score.
There is a characteristic pattern of MR imaging abnormalities in CADASIL that aids in differential diagnosis; however, some characteristic features, such as anterior temporal pole involvement, can be absent. MR imaging lesion load correlated with some clinical features including stroke and dementia, whereas depression is more common in individuals with deep white matter changes.
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）是一种导致复发性皮质下卒中的疾病。磁共振成像（MR成像）可显示局灶性腔隙性梗死和脑白质疏松，在诊断和评估中起核心作用。我们研究了一大组前瞻性招募的CADASIL患者的MR成像异常情况，以描述异常的空间分布，确定这种分布如何随年龄变化，并确定与该疾病临床特征的任何相关性。
在本研究中，前瞻性招募了来自64个家庭的112名CADASIL受试者。由一名神经放射科医生使用改良的斯海尔滕斯量表对MR成像扫描进行评分，以量化不同脑区高信号强度变化的严重程度。
病变负荷随年龄逐渐增加。评分在额叶、顶叶和颞前叶皮质以及外囊最高；在脑桥中等；在胼胝体、尾状核、苍白球、小脑、中脑和延髓相对较低。颞前极受累在各年龄段都很常见，一旦出现通常是融合的，但在20 - 29岁的患者中有33%没有这种情况。卒中病史与斯海尔滕斯总分以及内囊和脑桥评分相关。痴呆与斯海尔滕斯总分和皮质下白质评分相关，而抑郁与皮质下白质评分相关，但与斯海尔滕斯总分无关。
CADASIL存在特征性的MR成像异常模式，有助于鉴别诊断；然而，一些特征性表现，如颞前极受累，可能不存在。MR成像病变负荷与包括卒中和痴呆在内的一些临床特征相关，而抑郁在深部白质改变的个体中更常见。
