title: Genetic Counseling Dilemmas for a Patient with Sporadic Amyotrophic Lateral Sclerosis, Frontotemporal Degeneration & Parkinson's Disease.
abstract: Amyotrophic lateral sclerosis (ALS), frontotemporal degeneration and Parkinson's disease may be different expressions of the same neurodegenerative disease. However, association between ALS and parkinsonism-dementia complex (ALS-PDC) has only rarely been reported apart from the cluster detected in Guam. We report a patient presenting with ALS-PDC in whom pathological mutations/expansions were investigated. No other family members were reported to have any symptoms of a neurological condition. Our case demonstrates that ALS-PDC can occur as a sporadic disorder, even though the coexistence of the three clinical features in one patient suggests a single underlying genetic cause. It is known that genetic testing should be preferentially offered to patients with ALS who have affected first or second-degree relatives. However, this case illustrates the importance of genetic counseling for family members of patients with sporadic ALC-PDC in order to provide education on the low recurrence risk. Here, we dicuss the ethical, psychological and practical consequences for patients and their relatives.
authors.affiliation: Neurological Department, A. Manzoni Hospital, Via dell'Eremo 9/11, 23900, Lecco, Italy. vittorio.mantero@hotmail.com.
authors.forename: Vittorio
authors.initials: V
authors.lastname: Mantero
authors.affiliation: Department of Laboratory Medicine, Medical Genetics, Niguarda Ca' Granda Hospital, Milan, Italy.
authors.forename: Claudia
authors.initials: C
authors.lastname: Tarlarini
authors.affiliation: Neurological Department, A. Manzoni Hospital, Via dell'Eremo 9/11, 23900, Lecco, Italy.
authors.forename: Angelo
authors.initials: A
authors.lastname: Aliprandi
authors.affiliation: Headache and Neuroalgology Unit, IRCCS Foundation, Carlo Besta Neurological Institute, Milan, Italy.
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Lauria
authors.affiliation: Neurological Department, A. Manzoni Hospital, Via dell'Eremo 9/11, 23900, Lecco, Italy.
authors.forename: Andrea
authors.initials: A
authors.lastname: Rigamonti
authors.affiliation: Neurology Unit, Valtellina Valchiavenna Hospital, Sondrio, Italy.
authors.forename: Lucia
authors.initials: L
authors.lastname: Abate
authors.affiliation: Department of Internal Medicine, U.O. Medical Genetics of IRCCS AOU S. Martino - IST, Genoa, Italy.
authors.forename: Paola
authors.initials: P
authors.lastname: Origone
authors.affiliation: Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal Child Health, University of Genova, Genoa, Italy.
authors.forename: Paola
authors.initials: P
authors.lastname: Mandich
authors.affiliation: Department of Laboratory Medicine, Medical Genetics, Niguarda Ca' Granda Hospital, Milan, Italy.
authors.forename: Silvana
authors.initials: S
authors.lastname: Penco
authors.affiliation: Neurological Department, A. Manzoni Hospital, Via dell'Eremo 9/11, 23900, Lecco, Italy.
authors.forename: Andrea
authors.initials: A
authors.lastname: Salmaggi
mesh_terms: D000368:Aged; D000690:Amyotrophic Lateral Sclerosis / Q000175:diagnosis* / Q000235:genetics; D057180:Frontotemporal Dementia / Q000175:diagnosis* / Q000235:genetics; D005817:Genetic Counseling; D005820:Genetic Testing; D006801:Humans; D008297:Male; D010300:Parkinson Disease / Q000175:diagnosis* / Q000235:genetics; D010375:Pedigree; D013577:Syndrome
keywords: Amyotrophic lateral sclerosis; Dementia; Frontotemporal degeneration; Genetic; Genetic counseling; Genetic test; Guam complex; Parkinson disease; Parkinsonism