title: Presymptomatic diagnosis in Huntington's disease: the Mexican experience.
abstract: Huntington's disease (HD) is an autosomal dominant progressive, disabling neurodegenerative disorder, for which there is no effective treatment. Predictive testing (PT) for this illness began in 1986 and by 1993 it became more precise after cloning of the gene and the discovery of a CAG repeat expansion as the underlying cause. The objective of this paper is to illustrate the implementation and results of a PT program in a group of at-risk Mexican individuals with 12 years of follow-up. Our PT program conforms to the guidelines proposed by the International Huntington Association and the HD Working group of the World Federation of Neurology. Seventy-five individuals requested the testing, four of them did not fulfill the inclusion criteria, and five abandoned the program voluntarily before receiving the test results. Therefore, 66 results were delivered to 41 noncarriers and 25 mutation carriers. We did not have any catastrophic event, but 4 individuals with normal results and 11 mutation carriers were depressed. Even if this is a small sample, it is the first report of PT in a Latin-American population in which we have been faced with the same problems referred to in larger series.
authors.affiliation: Neurogenetics and Molecular Biology Department, Instituto Nacional de Neurología y Neurocirugía-Manuel Velasco Suárez (INNN-MVS), Mexico City, Mexico. elisaav@servidor.unam.mx
authors.forename: Maria Elisa
authors.initials: ME
authors.lastname: Alonso
authors.forename: Adriana
authors.initials: A
authors.lastname: Ochoa
authors.forename: Ana Luisa
authors.initials: AL
authors.lastname: Sosa
authors.forename: Yaneth
authors.initials: Y
authors.lastname: Rodríguez
authors.forename: Mireya
authors.initials: M
authors.lastname: Chávez
authors.forename: Catherine
authors.initials: C
authors.lastname: Boll
authors.forename: Petra
authors.initials: P
authors.lastname: Yescas
authors.forename: Rosario
authors.initials: R
authors.lastname: Macías
authors.forename: Astrid
authors.initials: A
authors.lastname: Rasmussen
mesh_terms: D000328:Adult; D004252:DNA Mutational Analysis; D005260:Female; D006580:Genetic Carrier Screening; D005820:Genetic Testing; D006579:Heterozygote; D006801:Humans; D006816:Huntington Disease / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D008800:Mexico; D009154:Mutation; D015397:Program Evaluation