title: Analysis of C9orf72 in patients with frontotemporal dementia and amyotrophic lateral sclerosis from Argentina.
abstract: Pathologic expansion of the G4C2 repeat in C9orf72 is the main genetic cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). To evaluate the frequency of the G4C2 expansion in a Latin American cohort of FTD and ALS patients, we used a 2-step genotyping strategy. For FTD, we observed an overall expansion frequency of 18.2% (6 of 33 unrelated cases). Moreover, the C9orf72 expansion accounted for 37.5% of all familial FTD cases (6 of 16 families). The expansion frequency in sporadic ALS cases was 2% (1 of 47 unrelated patients), whereas we observed the expansion in 1 of 3 families with a positive history for ALS. Overall, the expansion frequency in our FTD group was similar to that reported for patients in Europe and North America, whereas the frequency in our sporadic ALS group was significantly lower. To our knowledge, this is the first report on the frequency of the C9orf72 expansion in a Latin American population.
authors.affiliation: Laboratorio de Biología Molecular, Departamento de Neuropatología, Instituto de Investigaciones Neurológicas Dr. Raúl Carrea (FLENI), Buenos Aires, Argentina.
authors.forename: Tatiana
authors.initials: T
authors.lastname: Itzcovich
authors.affiliation: Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario, Canada.
authors.forename: Zhengrui
authors.initials: Z
authors.lastname: Xi
authors.affiliation: Laboratorio de Biología Molecular, Departamento de Neuropatología, Instituto de Investigaciones Neurológicas Dr. Raúl Carrea (FLENI), Buenos Aires, Argentina.
authors.forename: Horacio
authors.initials: H
authors.lastname: Martinetto
authors.affiliation: Centro de Memoria y Envejecimiento, Departamento de Neurología Cognitiva, Instituto de Investigaciones Neurológicas Dr. Raúl Carrea (FLENI), Buenos Aires, Argentina.
authors.forename: Patricio
authors.initials: P
authors.lastname: Chrem-Méndez
authors.affiliation: Centro de Memoria y Envejecimiento, Departamento de Neurología Cognitiva, Instituto de Investigaciones Neurológicas Dr. Raúl Carrea (FLENI), Buenos Aires, Argentina.
authors.forename: María Julieta
authors.initials: MJ
authors.lastname: Russo
authors.affiliation: Clínica de Esclerosis Lateral Amiotrófica, Departamento de Neurología, Instituto de Investigaciones Neurológicas Dr. Raúl Carrea (FLENI), Buenos Aires, Argentina.
authors.forename: Bruno
authors.initials: B
authors.lastname: de Ambrosi
authors.affiliation: Clínica de Esclerosis Lateral Amiotrófica, Departamento de Neurología, Instituto de Investigaciones Neurológicas Dr. Raúl Carrea (FLENI), Buenos Aires, Argentina.
authors.forename: Osvaldo D
authors.initials: OD
authors.lastname: Uchitel
authors.affiliation: Clínica de Esclerosis Lateral Amiotrófica, Departamento de Neurología, Instituto de Investigaciones Neurológicas Dr. Raúl Carrea (FLENI), Buenos Aires, Argentina.
authors.forename: Martín
authors.initials: M
authors.lastname: Nogués
authors.affiliation: Hospital Escuela de Agudos Dr. Ramón Madariaga, Posadas, Argentina.
authors.forename: Emanuel
authors.initials: E
authors.lastname: Silva
authors.affiliation: Centro de Neurología Cognitiva-Hospital Británico de Buenos Aires, Buenos Aires, Argentina.
authors.forename: Galeno
authors.initials: G
authors.lastname: Rojas
authors.affiliation: Centro de Memoria y Envejecimiento, Departamento de Neurología Cognitiva, Instituto de Investigaciones Neurológicas Dr. Raúl Carrea (FLENI), Buenos Aires, Argentina.
authors.forename: Pablo
authors.initials: P
authors.lastname: Bagnatti
authors.affiliation: Centro de Memoria y Envejecimiento, Departamento de Neurología Cognitiva, Instituto de Investigaciones Neurológicas Dr. Raúl Carrea (FLENI), Buenos Aires, Argentina.
authors.forename: Alejandra
authors.initials: A
authors.lastname: Amengual
authors.affiliation: Centro de Memoria y Envejecimiento, Departamento de Neurología Cognitiva, Instituto de Investigaciones Neurológicas Dr. Raúl Carrea (FLENI), Buenos Aires, Argentina.
authors.forename: Jorge
authors.initials: J
authors.lastname: Campos
authors.affiliation: Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario, Canada.
authors.forename: Ekaterina
authors.initials: E
authors.lastname: Rogaeva
authors.affiliation: Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario, Canada; Department of Clinical Neurosciences, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK.
authors.forename: Peter
authors.initials: P
authors.lastname: St George-Hyslop
authors.affiliation: Centro de Memoria y Envejecimiento, Departamento de Neurología Cognitiva, Instituto de Investigaciones Neurológicas Dr. Raúl Carrea (FLENI), Buenos Aires, Argentina; Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET), Buenos Aires, Argentina.
authors.forename: Ricardo
authors.initials: R
authors.lastname: Allegri
authors.affiliation: Laboratorio de Biología Molecular, Departamento de Neuropatología, Instituto de Investigaciones Neurológicas Dr. Raúl Carrea (FLENI), Buenos Aires, Argentina.
authors.forename: Gustavo
authors.initials: G
authors.lastname: Sevlever
authors.affiliation: Laboratorio de Biología Molecular, Departamento de Neuropatología, Instituto de Investigaciones Neurológicas Dr. Raúl Carrea (FLENI), Buenos Aires, Argentina; Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET), Buenos Aires, Argentina. Electronic address: esurace@hotmail.com.
authors.forename: Ezequiel I
authors.initials: EI
authors.lastname: Surace
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D001118:Argentina; D000073885:C9orf72 Protein; D042622:DNA Repeat Expansion / Q000235:genetics*; D005260:Female; D057180:Frontotemporal Dementia / Q000235:genetics*; D060005:Genotyping Techniques / Q000379:methods; D006801:Humans; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction / Q000379:methods; D011506:Proteins / Q000235:genetics*; D055815:Young Adult
chemical_list: D000073885:C9orf72 Protein; C568651:C9orf72 protein, human; D011506:Proteins
keywords: Amyotrophic lateral sclerosis; Frontotemporal dementia; Latin America; Repeat expansion; Repeat-primed polymerase chain reaction