Artículo
Analysis of C9orf72 in patients with frontotemporal dementia and amyotrophic lateral sclerosis from Argentina
Itzcovich, Tatiana; Xi, Zhengrui; Martinetto, Horacio Enrique
; Chrem Mendez, Patricio Alexis; Russo, María Julieta; de Ambrosi, Bruno; Uchitel, Osvaldo Daniel
; Nogués, Martín; Silva, Emanuel; Rojas, Zenón Galeno
; Bagnatti, Pablo; Amengual, Alejandra; Campos, Jorge; Rogaeva, Ekaterina; George-Hyslop, Peter St.; Allegri, Ricardo Francisco
; Sevlever, Gustavo; Surace, Ezequiel Ignacio
Fecha de publicación:
04/2016
Editorial:
Elsevier Science Inc
Revista:
Neurobiology of Aging
ISSN:
0197-4580
Idioma:
Inglés
Tipo de recurso:
Artículo publicado
Clasificación temática:
Resumen
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.
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Articulos(IFIBYNE)
Articulos de INST.DE FISIOL., BIOL.MOLECULAR Y NEUROCIENCIAS
Articulos de INST.DE FISIOL., BIOL.MOLECULAR Y NEUROCIENCIAS
Articulos(SEDE CENTRAL)
Articulos de SEDE CENTRAL
Articulos de SEDE CENTRAL
Citación
Itzcovich, Tatiana; Xi, Zhengrui; Martinetto, Horacio Enrique; Chrem Mendez, Patricio Alexis; Russo, María Julieta; et al.; Analysis of C9orf72 in patients with frontotemporal dementia and amyotrophic lateral sclerosis from Argentina; Elsevier Science Inc; Neurobiology of Aging; 40; 4-2016; 192.e13-192.e15
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