Genetic counselling in ALS: facts, uncertainties and clinical suggestions.

Stefania Cammarosano, Cristina Moglia, Antonio Canosa, Gianluigi Mancardi, Francesco Marrosu, Raffaella Tanel, Enza Mastro, Antonio Canosa, Cristina Moglia, Valeria Piras, Marco Barberis, Giuseppe Marangi, Stefania Cammarosano, Antonio Ilardi, Marco Luigetti, Rossella Spataro, Irene Ossola, Serena Lattante, Gianluca Floris, Claudia RicciEmanuela Costantino, William Sproviero, Leslie D. Parish, Clara Ajmone, Simona Portaro, Carla Pani, Tiziana Colletti, Laura Papetti, Umberto Manera, Davide Bertuzzo, Debora Pain, Antonella Surbone, Carmelo Rodolico, Giuseppe Fuda, Amelia Conte, Vincenzo La Bella, Fabrizio Pisano, Kalliopi Marinou, Paolo Volanti, Giuseppe Lauria Pintor, Paola Cossu, Maura Brunetti, Patrizia Sola, Ilaria Bartolomei, Maria Rosaria Monsurrò, Fabrizio Pisano, Kalliopi Marinou, Ilaria Pastore, Jessica Mandrioli, Anna Ticca, Giuseppe Borghero, Paola Origone, Claudia Caponnetto, Maura Pugliatti, Stefania Battistini, Francesco Logullo, Mario Sabatelli, Maria Rita Murru, Francesca L. Conforti, Marcella Zollino, Gabriella Restagno, Antonino Cannas, Paola Mandich, Isabella Simone, Fabrizio Pisano, Giancarlo Logroscino, Silvana Penco, Andrea Calvo, Adriano Chiò, Maria Giovanna Marrosu, Massimo Corbo, Fabrizio Salvi, Gabriele Mora, Aldo Quattrone, Fabio Giannini, Gioacchino Tedeschi, Antonio Gambardella, Christian Lunetta, Maria Alessandra Sotgiu

    Risultato della ricerca: Book/Film/Article review

    58 Citazioni (Scopus)

    Abstract

    The clinical approach to patients with amyotrophic lateral sclerosis (ALS) has been largely modified by the identification of novel genes, the detection of gene mutations in apparently sporadic patients, and the discovery of the strict genetic and clinical relation between ALS and frontotemporal dementia (FTD). As a consequence, clinicians are increasingly facing the dilemma on how to handle genetic counselling and testing both for ALS patients and their relatives. On the basis of existing literature on genetics of ALS and of other late-onset life-threatening disorders, we propose clinical suggestions to enable neurologists to provide optimal clinical and genetic counselling to patients and families. Genetic testing should be offered to ALS patients who have a first-degree or second-degree relative with ALS, FTD or both, and should be discussed with, but not offered to, all other ALS patients, with special emphasis on its major uncertainties. Presently, genetic testing should not be proposed to asymptomatic at-risk subjects, unless they request it or are enrolled in research programmes. Genetic counselling in ALS should take into account the uncertainties about the pathogenicity and penetrance of some genetic mutations; the possible presence of mutations of different genes in the same individual; the poor genotypic/phenotypic correlation in most ALS genes; and the phenotypic pleiotropy of some genes. Though psychological, social and ethical implications of genetic testing are still relatively unexplored in ALS, we recommend multidisciplinary counselling that addresses all relevant issues, including disclosure of tests results to family members and the risk for genetic discrimination.
    Lingua originaleEnglish
    pagine (da-a)478-485
    Numero di pagine8
    RivistaJournal of Neurology, Neurosurgery and Psychiatry
    Volume85
    Stato di pubblicazionePublished - 2013

      Fingerprint

    All Science Journal Classification (ASJC) codes

    • Surgery
    • Clinical Neurology
    • Psychiatry and Mental health

    Cita questo

    Cammarosano, S., Moglia, C., Canosa, A., Mancardi, G., Marrosu, F., Tanel, R., Mastro, E., Canosa, A., Moglia, C., Piras, V., Barberis, M., Marangi, G., Cammarosano, S., Ilardi, A., Luigetti, M., Spataro, R., Ossola, I., Lattante, S., Floris, G., ... Sotgiu, M. A. (2013). Genetic counselling in ALS: facts, uncertainties and clinical suggestions. Journal of Neurology, Neurosurgery and Psychiatry, 85, 478-485.