Genetic counselling in ALS: facts, uncertainties and clinical suggestions. Issue 5 (6th July 2013)

• Record Type: Journal Article
• Authors: Chiò, Adriano; Battistini, Stefania; Calvo, Andrea; Caponnetto, Claudia; Conforti, Francesca L; Corbo, Massimo; Giannini, Fabio; Mandrioli, Jessica; Mora, Gabriele; Sabatelli, Mario; Ajmone, Clara; Mastro, Enza; Pain, Debora; Mandich, Paola; Penco, Silvana; Restagno, Gabriella; Zollino, Marcella; Surbone, Antonella
• Other Names: Monsurrò Maria Rosaria author non-byline.; Tedeschi Gioacchino author non-byline.; Conte Amelia author non-byline.; Luigetti Marco author non-byline.; Lattante Serena author non-byline.; Marangi Giuseppe author non-byline.; Volanti Paolo author non-byline.; Marinou Kalliopi author non-byline.; Papetti Laura author non-byline.; Lunetta Christian author non-byline.; Pintor Giuseppe Lauria author non-byline.; Salvi Fabrizio author non-byline.; Bartolomei Ilaria author non-byline.; Quattrone Aldo author non-byline.; Gambardella Antonio author non-byline.; Logroscino Giancarlo author non-byline.; Simone Isabella author non-byline.; Pisano Fabrizio author non-byline.; Spataro Rossella author non-byline.; La Bella Vincenzo author non-byline.; Colletti Tiziana author non-byline.; Mancardi Gianluigi author non-byline.; Origone Paola author non-byline.; Sola Patrizia author non-byline.; Borghero Giuseppe author non-byline.; Marrosu Francesco author non-byline.; Marrosu Maria Giovanna author non-byline.; Murru Maria Rita author non-byline.; Floris Gianluca author non-byline.; Cannas Antonino author non-byline.; Piras Valeria author non-byline.; Costantino Emanuela author non-byline.; Pani Carla author non-byline.; Sotgiu Maria Alessandra author non-byline.; Pugliatti Maura author non-byline.; Parish Leslie D. author non-byline.; Cossu Paola author non-byline.; Ticca Anna author non-byline.; Rodolico Carmelo author non-byline.; Portaro Simona author non-byline.; Ricci Claudia author non-byline.; Moglia Cristina author non-byline.; Ossola Irene author non-byline.; Brunetti Maura author non-byline.; Barberis Marco author non-byline.; Canosa Antonio author non-byline.; Cammarosano Stefania author non-byline.; Bertuzzo Davide author non-byline.; Fuda Giuseppe author non-byline.; Ilardi Antonio author non-byline.; Manera Umberto author non-byline.; Pastore Ilaria author non-byline.; Sproviero William author non-byline.; Logullo Francesco author non-byline.; Tanel Raffaella author non-byline.;
• Is Part Of: Journal of neurology, neurosurgery and psychiatry. Volume 85:Issue 5(2014)
• Page Start: 478
• Page End: 485
• Publication Date: 2013-07-06
• Subjects: ALS -- GENETICS; Neurology -- Periodicals; Nervous system -- Surgery -- Periodicals; Psychiatry -- Periodicals; 616.8
• DOI: 10.1136/jnnp-2013-305546
• Languages: English
• ISSNs: 0022-3050

Abstract

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.