The contribution of molecular genetics to the nosology and diagnosis of neurological disorders of childhood
Correspondencia: Jean Aicardi MD, FRCP. Service de Neurologie Pediatrique et des Maladies Metaboliques. Hôpital Robert Debré. 48, boulevard Sérurier. F-75019 París.
Fax: +01 40 03 20 20
Introduction: The recent spectacular development of molecular genetics has considerably amplified the role of genetics in classification and diagnosis, especially in degenerative diseases but also in other conditions such as developmental brain disorders and predisposition to some acquired diseases (e.g. infections and immunological maladies).
Objective: The aim of this article is not to review the ever growing list of disorders due to gene abnormalities but to present a few reflections on their consequences and to try to assess their impact on some of the basic concepts in clinical medicine.
Development: The main advantages attributable to the use of molecular genetics are the identification of clinical conditions with different clinical phenomena and due to a single cause and vice versa the existence of clinical conditions in which many different genetic abnormalities can be found. Its main drawbacks derive from its application for establishing nosologic classifications only on the basis of its findings, mainly due to the lack of congruence between phenotype and genotype.
Conclusion: The information from molecular biology should be integrated with that of other sources in a significant profile, which is the intellectual basis of clinical medicine.
Objetivos El objetivo de este trabajo no es revisar la lista de alteraciones con base genética, siempre en expansión, sino presentar una serie de reflexiones sobre sus consecuencias e intentar evaluar su impacto sobre algunos de los conceptos básicos en la medicina clínica.
Desarrollo Las principales ventajas de la aplicación de la genética molecular se derivan de la identificación de entidades clínicas con diferentes manifestaciones debidas a una única causa, y, viceversa, la existencia de cuadros clínicos similares debidos a múltiples anomalías genéticas. Sus principales inconvenientes se encuentran a la hora de establecer clasificaciones nosológicas basadas en los hallazgos de genética molecular, especialmente por la falta de congruencia entre fenotipo y genotipo.
Conclusión La información obtenida por la biología molecular debe ser integrada con la procedente de otras fuentes en un perfil característico, el cual constituye la base intelectual de la medicina clínica