Early-onset dementias: diagnostic and etiological considerations.
Early-onset dementias: diagnostic and etiological considerations.
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早期发作的痴呆症：诊断和病因考虑因素。
DOI：
10.1186/alzrt197
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发表时间：
2013-07-31
期刊：
影响因子：
--
通讯作者：
Gauthier S
中科院分区：
文献类型：
--
作者：
Masellis M;Sherborn K;Neto P;Sadovnick DA;Hsiung GY;Black SE;Prasad S;Williams M;Gauthier S
本文总结了有关早发性痴呆（EOD）的文献，这些文献导致了第四届加拿大痴呆诊断和治疗共识会议的建议。与晚发性痴呆相比，EOD需要更广泛的鉴别诊断。延误诊断是常见的，爆炸物处理的社会影响需要特别护理小组。EOD综合征的病因学应考虑到家族史和共病，如脑血管危险因素，这可能会影响临床表现和发病年龄。例如，虽然许多EOD更可能具有孟德尔遗传和/或代谢原因，但合并症的存在可能会促使有迟发性痴呆风险的个体在更早的年龄表现出症状，这进一步导致了观察到的异质性，并可能混淆诊断调查。因此，应根据发病年龄、临床表现和合并症考虑个性化的医学诊断方法。通常需要遗传咨询和检测以及专门的生化筛查，特别是在40岁以下和有常染色体显性或隐性疾病家族史的人中。EOD药物开发管道中的新治疗方法，如阿尔茨海默病的遗传形式，应该针对突变或生化缺陷所涉及的特定致病级联反应。
This paper summarizes the body of literature about early-onset dementia (EOD) that led to recommendations from the Fourth Canadian Consensus Conference on the Diagnosis and Treatment of Dementia. A broader differential diagnosis is required for EOD compared with late-onset dementia. Delays in diagnosis are common, and the social impact of EOD requires special care teams. The etiologies underlying EOD syndromes should take into account family history and comorbid diseases, such as cerebrovascular risk factors, that may influence the clinical presentation and age at onset. For example, although many EODs are more likely to have Mendelian genetic and/or metabolic causes, the presence of comorbidities may drive the individual at risk for late-onset dementia to manifest the symptoms at an earlier age, which contributes further to the observed heterogeneity and may confound diagnostic investigation. A personalized medicine approach to diagnosis should therefore be considered depending on the age at onset, clinical presentation, and comorbidities. Genetic counseling and testing as well as specialized biochemical screening are often required, especially in those under the age of 40 and in those with a family history of autosomal dominant or recessive disease. Novel treatments in the drug development pipeline for EOD, such as genetic forms of Alzheimer's disease, should target the specific pathogenic cascade implicated by the mutation or biochemical defect.
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DOI：
10.1016/s0140-6736(20)32205-4
发表时间：
2021-04-24
期刊：
Lancet (London, England)
影响因子：
--
作者：
Scheltens P;De Strooper B;Kivipelto M;Holstege H;Chételat G;Teunissen CE;Cummings J;van der Flier WM
通讯作者：
van der Flier WM
影响因子：
4.5
作者：
Do CB;Tung JY;Dorfman E;Kiefer AK;Drabant EM;Francke U;Mountain JL;Goldman SM;Tanner CM;Langston JW;Wojcicki A;Eriksson N
通讯作者：
Eriksson N
影响因子：
4.8
作者：
Dickson, Dennis W.;Ahmed, Zeshan;Josephs, Keith A.
通讯作者：
Josephs, Keith A.
影响因子：
38.1
作者：
Bell, Brian;Lin, Jack J.;Seidenberg, Michael;Hermann, Bruce
通讯作者：
Hermann, Bruce
影响因子：
--
作者：
Charrow, J;Andersson, HC;Zimran, A
通讯作者：
Zimran, A