title: [Genetic counselling is relevant in familial as well as sporadic cases of amyotrophic lateral sclerosis].
abstract: Amyotrophic lateral sclerosis (ALS) is a progressive and fatal neurodegenerative disease of upper and lower motor neurons which often results in death from respiratory failure within 2-4 years. It has been estimated that 5-10% of ALS patients have a family history with ALS. The genetic background of the disorder is heterogeneous, and recently molecular genetic testing has become increasingly relevant, also in the clinical evaluation. As several genes have been identified in which the pathogenic mutations are characterized by reduced age-dependent penetrance, genetic testing can be relevant to consider, also in isolated cases.
authors.affiliation: Klinisk Genetisk Klinik, Rigshospitalet, Blegdamsvej 9, 2100 København Ø. suzanne.lindquist@regionh.dk.
authors.forename: Suzanne Granhøj
authors.initials: SG
authors.lastname: Lindquist
authors.forename: Morten
authors.initials: M
authors.lastname: Dunø
authors.forename: Kirsten
authors.initials: K
authors.lastname: Svenstrup
authors.forename: Jørgen Erik
authors.initials: JE
authors.lastname: Nielsen
mesh_terms: D000690:Amyotrophic Lateral Sclerosis / Q000209:etiology / Q000235:genetics*; D000073885:C9orf72 Protein / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics; D005817:Genetic Counseling; D005820:Genetic Testing; D006801:Humans; D009154:Mutation; D011506:Proteins / Q000235:genetics; D034702:RNA-Binding Protein FUS / Q000235:genetics; D000072105:Superoxide Dismutase-1 / Q000235:genetics
chemical_list: D000073885:C9orf72 Protein; D004268:DNA-Binding Proteins; D011506:Proteins; D034702:RNA-Binding Protein FUS; D000072105:Superoxide Dismutase-1