title: A patient carrying a homozygous p.A382T TARDBP missense mutation shows a syndrome including ALS, extrapyramidal symptoms, and FTD.
abstract: We have recently published data showing that a founder mutation of the TARDBP gene (p.A382T) accounts for approximately one third of amyotrophic lateral sclerosis (ALS) cases on the Mediterranean island of Sardinia (Chiò et al., 2011). In that report, we identified a 53-year-old man carrying a homozygous A382T missense mutation of the TARDBP gene with a complex neurological syndrome including amyotrophic lateral sclerosis, parkinsonian features, motor and vocal tics, and frontotemporal dementia (FTD). Due to the uniqueness of this case, here we provide a detailed clinical description, as well as neurophysiological, neuropsychological, and neuroimaging data for that case and his extended family.
authors.affiliation: Department of Neurology, Azienda Universitaria-Ospedaliera of Cagliari and University of Cagliari, Cagliari, Italy.
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Borghero
authors.forename: Gianluca
authors.initials: G
authors.lastname: Floris
authors.forename: Antonino
authors.initials: A
authors.lastname: Cannas
authors.forename: Maria G
authors.initials: MG
authors.lastname: Marrosu
authors.forename: Maria R
authors.initials: MR
authors.lastname: Murru
authors.forename: Emanuela
authors.initials: E
authors.lastname: Costantino
authors.forename: Leslie D
authors.initials: LD
authors.lastname: Parish
authors.forename: Maura
authors.initials: M
authors.lastname: Pugliatti
authors.forename: Anna
authors.initials: A
authors.lastname: Ticca
authors.forename: Bryan J
authors.initials: BJ
authors.lastname: Traynor
authors.forename: Andrea
authors.initials: A
authors.lastname: Calvo
authors.forename: Stefania
authors.initials: S
authors.lastname: Cammarosano
authors.forename: Cristina
authors.initials: C
authors.lastname: Moglia
authors.forename: Angelina
authors.initials: A
authors.lastname: Cistaro
authors.forename: Maura
authors.initials: M
authors.lastname: Brunetti
authors.forename: Gabriella
authors.initials: G
authors.lastname: Restagno
authors.forename: Adriano
authors.initials: A
authors.lastname: Chiò
mesh_terms: D000690:Amyotrophic Lateral Sclerosis / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D001480:Basal Ganglia Diseases / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D057180:Frontotemporal Dementia / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense / Q000235:genetics*; D010375:Pedigree; D013577:Syndrome
chemical_list: D004268:DNA-Binding Proteins