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  • Title: Usefulness of genetic characterization of narcolepsy and hypersomnia on phenotype definition: a study in Portuguese patients.
    Author: Martins-da-Silva A, Lopes J, Ramalheira J, Carvalho C, Cunha D, Costa PP, Silva MB.
    Journal: Rev Neurol; 2014 Jan 16; 58(2):49-54. PubMed ID: 24399620.
    Abstract:
    INTRODUCTION: The determination of human leukocyte antigen (HLA) class II genotype is widely used to confirm the diagnosis of narcolepsy with or without cataplexy. The HLA genotyping is reliable, easy to perform and reassures the clinician. It is also less invasive than other methodologies and is in accordance with the autoimmune hypothesis for the origin of narcolepsy. AIM. To assess the usefulness of genetic markers (HLA) in the differential diagnosis between different sleep disorders and their relevance in the context of our population. SUBJECTS AND METHODS: We analyzed a cohort of 113 patients with episodes of daytime sleepiness, 38 patients were classified as narcolepsy with cataplexy, 13 as narcolepsy and 62 as hypersomnia/idiopathic hypersomnia. A control population of 206 reportedly healthy individuals from the same geographic origin was used. RESULTS: The HLA-DQB1*06:02 allele frequency was overrepresented in patients with narcolepsy and narcolepsy with cataplexy (46% and 71% respectively vs. 16% in control population), with a value of p = 4.53-13 for narcolepsy with cataplexy. The HLA-DQB1*02 frequency was increased in the population with hypersomnia when compared with the control population (55% vs. 34%; p = 0.004). CONCLUSIONS: Genetic characterization has the potential to enhance the ability to carry out differential diagnosis among diverse excessive daytime sleepiness phenotypes, corresponding to diverse entities with different biological mechanisms. TITLE: Utilidad de la caracterizacion genetica de la narcolepsia y la hipersomnia en la definicion del fenotipo: estudio en pacientes portugueses. UNLABELLED: Introduccion. La determinacion del genotipo de los antigenos leucocitarios humanos (HLA) de clase II es un metodo muy difundido para confirmar el diagnostico de la narcolepsia, con y sin cataplejia. El genotipado del HLA es fiable, sencillo y proporciona seguridad al medico. Tambien es menos invasivo que otros metodos y entronca con la hipotesis autoinmunitaria sobre el origen de la narcolepsia. Objetivo. Evaluar la utilidad de los marcadores geneticos (HLA) en el diagnostico diferencial de diferentes trastornos del sueño y su relevancia en el contexto de nuestra poblacion. Sujetos y metodos. Se analizo una cohorte de 113 pacientes con episodios de somnolencia diurna, 38 de los cuales fueron clasificados como afectados por narcolepsia con cataplejia, 13 con narcolepsia y 62 con hipersomnia/hipersomnia idiopatica. La poblacion de control estaba integrada por 206 individuos sanos del mismo origen geografico. Resultados. La frecuencia del alelo HLA-DQB1*06:02 era superior a la habitual en los pacientes con narcolepsia y narcolepsia con cataplejia (46% y 71%, respectivamente, frente al 16% en la poblacion control), con un valor de p = 4,53–13 en el caso de la narcolepsia con cataplejia. La frecuencia del alelo HLA-DQB1*02 era mas elevada en la poblacion con hipersomnia en comparacion con la poblacion control (55% frente a 34%; p = 0,004). Conclusiones. La caracterizacion genetica tiene posibilidades de mejorar el diagnostico diferencial entre varios fenotipos de somnolencia diurna excesiva, que corresponden a diversas entidades con diferentes mecanismos biologicos.
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