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首页> 外文期刊>Journal of neurology >Insensitivity of visual assessment of hippocampal atrophy in familial Alzheimer's disease.
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Insensitivity of visual assessment of hippocampal atrophy in familial Alzheimer's disease.

机译：视觉评估海马萎缩在家族性阿尔茨海默氏病中不敏感。

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Medial temporal atrophy is a well-established marker for Alzheimer's disease (AD). However, due to normal variation in the size of medial temporal structures and variability in how radiologists interpret images, the use of clinical reads in establishing the presence of pathological atrophy is imprecise. A limitation of studies of magnetic resonance imaging (MRI) measures in AD is diagnostic uncertainty as it can be unknown if pre- or early-symptomatic subjects go on to develop AD and most subjects do not undergo autopsy verification of the diagnosis. In persons with or at-risk for AD due to fully-penetrant autosomal dominant mutations in the PSEN1 and APP genes, the diagnosis or future development of AD can be predicted with essentially 100% accuracy. We used this predictability to assess the ability of radiologists to detect hippocampal atrophy (HA) in persons destined to develop AD. Coronal T1-weighted MRI scans of 39 persons demented from (n = 4) or at-risk for inheriting (n = 35) PSEN1 or APP mutations were independently assessed by two radiologists and the presence or absence of HA determined. Of the 39 subjects, 26 were FAD mutation carriers. Fifteen of 28 asymptomatic at-risk persons were FAD mutation carriers and four of these were rated as having atrophy for a sensitivity of 27% and a specificity of 85%. Among seven mildly affected yet non-demented subjects, atrophy was detected in three and in the four demented subjects HA was identified in two. Our results suggest that radiologists' ability to detect HA in persons in whom the diagnosis of incipient AD is certain is sub-optimal and quantitative MRI techniques or other biological markers of the disease are needed.
机译：颞内侧萎缩是阿尔茨海默氏病（AD）的公认标志。然而，由于内侧颞部结构大小的正常变化以及放射科医生如何解释图像，在确定病理性萎缩的存在中使用临床读数是不准确的。诊断AD的磁共振成像（MRI）措施的局限性在于诊断的不确定性，因为尚不清楚是否有症状的早期或早期受试者继续发展AD，并且大多数受试者没有经过尸检验证诊断。对于由于PSEN1和APP基因中完全穿透性常染色体显性突变而患有AD或有AD风险的人，基本上可以100％准确地预测AD的诊断或未来发展。我们使用这种可预测性来评估放射科医生在注定要发展为AD的人群中检测海马萎缩（HA）的能力。由两名放射科医生独立评估39名因（n = 4）痴呆或遗传（n = 35）遗传风险的人的冠状T1加权MRI扫描，并确定是否存在HA。在这39名受试者中，有26名是FAD突变携带者。 28名无症状高危人群中有15名是FAD突变携带者，其中4名被定为萎缩，敏感性为27％，特异性为85％。在七名轻度受影响但尚未痴呆的受试者中，三名被发现萎缩，而在四名痴呆的受试者中，有两人发现了HA。我们的研究结果表明，放射科医生能够确定确诊为AD的人中的HA是次优的，因此需要定量MRI技术或该疾病的其他生物学标记。

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