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. 2000 Sep;2(3):241-6.
doi: 10.31887/DCNS.2000.2.3/gsmall.

Early diagnosis of Alzheimer's disease: update on combining genetic and brain-imaging measures

G W Small  1
Affiliations

Early diagnosis of Alzheimer's disease: update on combining genetic and brain-imaging measures

G W Small. Dialogues Clin Neurosci. 2000 Sep.

Abstract
in English, Spanish, French

Diagnosis of Alzheimer's disease is often missed or delayed in clinical practice; thus, methods to improve early detection would provide opportunities for early intervention, symptomatic treatment, and improved patient function. Emerging data suggest that the disease process begins years before clinical diagnostic confirmation. This paper reviews current research focusing on methods for more specific and sensitive early detection using measures of genetic risk for Alzheimer's disease and functional brain imaging. This approach aims to identify patients in a presymptomatic stage for early treatment to delay progressive cognitive decline and disease onset.

El diagnóstico de la enfermedad de Alzheimer habitualmente es erróneo o se realiza tardíamente en la práctica clínica; por lo tanto, los métodos que ayuden a la detección precoz facilitarán las opciones de una intervención oportuna, de un tratamiento sintomático y de una mejoría en el funcionamiento del paciente. La información reciente sugiere que el proceso patológico comienza años antes de la confirmación del diagnóstico clínico. Este artículo revisa la investigación actual, focalizándose en métodos para una detección precoz más especifica y sensible, a través de mediciones del riesgo genético para la enfermedad de Alzheimer y neuroimágenes cerebrales funcionales. Esta aproximación ayuda a identificar pacientes en una etapa presintomática, para un tratamiento precoz que ayude a retardar el deterioro cognitivo progresivo y la aparición de la enfermedad.

En pratique clinique, dans la maladie d'Aizheimer, le diagnostic n'est pas toujours posé ou est souvent retardé; le développement de méthodes diagnostiques précoces pourrait permettre une prise en charge dès le début de la maladie, la prescription d'un traitement symptomatique et l'amélioration de l'état fonctionnel du patient. Les nouvelles données dont nous disposons suggèrent que le processus pathologique débute plusieurs années avant que le diagnostic clinique ne soit confirmé. Cet article concerne les recherches en cours sur des techniques de diagnostic précoce plus spécifiques et plus sensibles associant l'évaluation du risque génétique de développer la maladie et l'imagerie cérébrale. Cette approche a pour objectif d'identifier les patients atteints à un stade présymptomatique afin de les traiter précocement pour retarder l'apparition du déficit cognitifet le début de la maladie.

Keywords: Alzheimer's disease; brain imaging; genetic risk; magnetic resonance imaging; positron emission tomography.

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Figures

Figure 1.
Figure 1.. Hypothetical decline curve for two patients with Alzheimer's disease, one who received treatment (dotted line) another who did not (solid line). A major goal of early detection is to intervene early in the course of the disease, even in presymptomatic stages.
Figure 2.
Figure 2.. Technological developments (blue) offer the potential of identifying Alzheimer's disease prior to the time point when clinicians currently arrive at a clinical diagnosis. Combining various approaches is likely to improve early diagnostic accuracy.
See this image and copyright information in PMC

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