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Approach to atypical Alzheimer’s disease and case studies of the major subtypes

机译：非典型阿尔茨海默氏病的疾病与主要亚型的案例研究

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Alzheimer’s disease (AD) has long been recognized as a heterogeneous illness, with a common clinical presentation of progressive amnesia and less common “atypical” clinical presentations, including syndromes dominated by visual, aphasic, “frontal,” or apraxic symptoms. Our knowledge of atypical clinical phenotypes of AD comes from clinicopathologic studies, but with the growing use of in vivo molecular biomarkers of amyloid and tau pathology, we are beginning to recognize that these syndromes may not be as rare as once thought. When a clinician is evaluating a patient whose clinical phenotype is dominated by progressive aphasia, complex visual impairment, or other neuropsychiatric symptoms with relative sparing of memory, the differential diagnosis may be broader and a confident diagnosis of an atypical form of AD may require the use of molecular biomarkers. Despite the evolving sophistication in our diagnostic tools, and the acknowledgment of atypical AD syndromes in the 2011 revised diagnostic criteria for AD, the assessment of such patients still poses substantial challenges. We use a case-based approach to review the clinical and imaging phenotypes of a series of patients with typical and atypical AD, and discuss our current approach to their evaluation. One day, we hope that regardless of whether a patient exhibits typical or atypical symptoms of AD pathology, we will be able to identify the condition at a prodromal phase and institute a combination of symptomatic and disease-modifying therapies to support cognitive processes, function, and behavior, and slow or halt progression to dementia.
机译：Alzheimer的疾病（AD）长期被认为是异质疾病，具有常见的癫痫症和较少常见的“非典型”临床介绍的临床介绍，包括统治因视觉，性腺，“额叶”或巨大症状主导的综合征。我们对广告的非典型临床表型的了解来自临床病理学研究，但随着淀粉样蛋白和TAU病理的体内分子生物标志物的使用，我们开始认识到这些综合症可能不像曾经认为一样罕见。当临床医生正在评估临床表型以渐进性失血病，复杂的视力障碍或其他神经精神症状与记忆相对保留的患者为主时，差异诊断可能更广泛，并且自信地诊断出非典型的广告形式可能需要使用分子生物标志物。尽管我们的诊断工具中的复杂程度不断发展，但2011年的非典型广告综合征在2011年修订的广告诊断标准中，对这些患者的评估仍然造成了大量挑战。我们使用基于案例的方法来审查一系列典型和非典型广告的一系列患者的临床和成像表型，并讨论了我们目前的评价方法。有一天，我们希望，无论患者是否呈现典型或不典型的AD病理症状，我们都能够识别产态阶段的病症，并组合症状和疾病修饰治疗的组合，以支持认知过程，功能，和行为，缓慢或停止进展到痴呆症。

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