caa a22 4500 605544646 CHVBK 20210128100932.0 cr unu---uuuuu 210128e20150801xx s 000 0 eng 10.1007/s10897-015-9831-y doi (NATIONALLICENCE)springer-10.1007/s10897-015-9831-y Complexities of Genetic Counseling for ALS: A Case of Two Siblings with Discordant Genetic Test Results [Elektronische Daten] [Paola Mandich, Vittorio Mantero, Simonetta Verdiani, Fabio Gotta, Claudia Caponnetto, Emilia Bellone, Giovanna Ferrandes, Paola Origone] Rapid advances in the genetics of amyotrophic lateral sclerosis (ALS) have dramatically changed the approach of clinicians and researchers to the motor neuron diseases. We report two siblings in whom the genetic study provided conflicting results, hence raising a number of issues which deserve to be considered by clinicians involved in genetic testing for ALS. The first patient died within 2years of ALS onset, while her brother still manages to walk unaided, 7years into onset. Genetic analyses, performed on the first patient as part of a research protocol, and as clinical genetic testing on the brother, provided different results. Results for Patient 1 were negative for all investigated genes, thus suggesting that her disease may be a phenocopy, while her brother carried an autosomal dominant TARDBP mutation (p.A382T). A multidisciplinary approach may help patients and clinicians face the emerging dilemmas in such a complex field. Sharing and updating of advances, not to mention uncertainties inherent to current knowledge, with patients and families may prove to be an effective way to support them and to make them aware of the present limits of our knowledge and of the blurred border between research and clinical practice. National Society of Genetic Counselors, Inc., 2015 Amyotrophic lateral sclerosis nationallicence ALS nationallicence Genetic nationallicence Genetic counseling nationallicence TARDBP nationallicence TDP43 nationallicence Genetic testing nationallicence Ethical dilemma nationallicence Mandich Paola Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal Child Health, University of Genova, Viale Benedetto XV, 6, 16132, Genoa, Italy aut Mantero Vittorio Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal Child Health, University of Genova, Viale Benedetto XV, 6, 16132, Genoa, Italy aut Verdiani Simonetta Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal Child Health, University of Genova, Viale Benedetto XV, 6, 16132, Genoa, Italy aut Gotta Fabio Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal Child Health, University of Genova, Viale Benedetto XV, 6, 16132, Genoa, Italy aut Caponnetto Claudia U.O. Neurology of IRCCS AOU S. Martino - IST, Via Largo Benzi 10, 16132, Genoa, Italy aut Bellone Emilia Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal Child Health, University of Genova, Viale Benedetto XV, 6, 16132, Genoa, Italy aut Ferrandes Giovanna U.O. Clinical Psychology, IRCCS AOU San Martino-IST, Via Largo Benzi 10, 16132, Genoa, Italy aut Origone Paola U.O. Medical Genetics of IRCCS AOU S. Martino - IST, Via Largo Benzi 10, 16132, Genoa, Italy aut Journal of Genetic Counseling Springer US; http://www.springer-ny.com 24/4(2015-08-01), 553-557 1059-7700 24:4<553 2015 24 10897 https://doi.org/10.1007/s10897-015-9831-y text/html Onlinezugriff via DOI BK010053 XK010053 XK010000 Metadata rights reserved Springer special CC-BY-NC licence nationallicence 1 research-article jats NATIONALLICENCE NATIONALLICENCE NL-springer NATIONALLICENCE 856 40 https://doi.org/10.1007/s10897-015-9831-y text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Mandich Paola Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal Child Health, University of Genova, Viale Benedetto XV, 6, 16132, Genoa, Italy aut NATIONALLICENCE 700 1- Mantero Vittorio Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal Child Health, University of Genova, Viale Benedetto XV, 6, 16132, Genoa, Italy aut NATIONALLICENCE 700 1- Verdiani Simonetta Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal Child Health, University of Genova, Viale Benedetto XV, 6, 16132, Genoa, Italy aut NATIONALLICENCE 700 1- Gotta Fabio Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal Child Health, University of Genova, Viale Benedetto XV, 6, 16132, Genoa, Italy aut NATIONALLICENCE 700 1- Caponnetto Claudia U.O. Neurology of IRCCS AOU S. Martino - IST, Via Largo Benzi 10, 16132, Genoa, Italy aut NATIONALLICENCE 700 1- Bellone Emilia Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal Child Health, University of Genova, Viale Benedetto XV, 6, 16132, Genoa, Italy aut NATIONALLICENCE 700 1- Ferrandes Giovanna U.O. Clinical Psychology, IRCCS AOU San Martino-IST, Via Largo Benzi 10, 16132, Genoa, Italy aut NATIONALLICENCE 700 1- Origone Paola U.O. Medical Genetics of IRCCS AOU S. Martino - IST, Via Largo Benzi 10, 16132, Genoa, Italy aut NATIONALLICENCE 773 0- Journal of Genetic Counseling Springer US; http://www.springer-ny.com 24/4(2015-08-01), 553-557 1059-7700 24:4<553 2015 24 10897