title: Young-onset rapidly progressive ALS associated with heterozygous FUS mutation.
abstract: We report a 36-years-old Cape Verdean man who presented with respiratory insufficiency due to rapidly progressive sporadic amyotrophic lateral sclerosis (ALS), in whom FUS mutation c.1551C > G (p.Hist517Gln) in heterozygosity was identified, a finding previously described as non-pathogenic. The only previous report on this mutation was in a family from Cape Verde in which four members developed ALS; all were homozygous for the mutation. This case shows that this FUS mutation presents a highly variable penetrance and expressivity.
authors.affiliation: a Instituto de Medicina Molecular and Instituto de Fisiologia, Faculdade de Medicina, Universidade de Lisboa , Lisbon , Portugal and.
authors.forename: Marta
authors.initials: M
authors.lastname: Gromicho
authors.affiliation: a Instituto de Medicina Molecular and Instituto de Fisiologia, Faculdade de Medicina, Universidade de Lisboa , Lisbon , Portugal and.|b Department of Neurosciences and Mental Health , Hospital de Santa Maria - CHLN , Lisbon , Portugal.
authors.forename: Miguel
authors.initials: M
authors.lastname: Oliveira Santos
authors.affiliation: a Instituto de Medicina Molecular and Instituto de Fisiologia, Faculdade de Medicina, Universidade de Lisboa , Lisbon , Portugal and.|b Department of Neurosciences and Mental Health , Hospital de Santa Maria - CHLN , Lisbon , Portugal.
authors.forename: Anabela
authors.initials: A
authors.lastname: Pinto
authors.affiliation: a Instituto de Medicina Molecular and Instituto de Fisiologia, Faculdade de Medicina, Universidade de Lisboa , Lisbon , Portugal and.
authors.forename: Ana
authors.initials: A
authors.lastname: Pronto-Laborinho
authors.affiliation: a Instituto de Medicina Molecular and Instituto de Fisiologia, Faculdade de Medicina, Universidade de Lisboa , Lisbon , Portugal and.|b Department of Neurosciences and Mental Health , Hospital de Santa Maria - CHLN , Lisbon , Portugal.
authors.forename: Mamede
authors.initials: M
authors.lastname: De Carvalho
mesh_terms: D000328:Adult; D000690:Amyotrophic Lateral Sclerosis / Q000175:diagnosis* / Q000235:genetics*; D018450:Disease Progression; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D034702:RNA-Binding Protein FUS / Q000235:genetics*
chemical_list: C000599550:FUS protein, human; D034702:RNA-Binding Protein FUS
keywords: Amyotrophic lateral sclerosis; Cape Verde; FUS mutation; dominant transmission; young-onset