Artículos de revistas
C9ORF72 G 4 C 2 -repeat expansion and frontotemporal dementia first reported case in Argentina
Fecha
2016-06Registro en:
Fernández Suarez, M.; Surace, Ezequiel Ignacio; Harris, Paula; Tapajoz Pereira de Sampaio, Fernanda; Sevlever, Gustavo; et al.; C9ORF72 G 4 C 2 -repeat expansion and frontotemporal dementia first reported case in Argentina; Routledge Journals, Taylor & Francis Ltd; Neurocase; 22; 3; 6-2016; 281-284
1355-4794
CONICET Digital
CONICET
Autor
Fernández Suarez, M.
Surace, Ezequiel Ignacio
Harris, Paula
Tapajoz Pereira de Sampaio, Fernanda
Sevlever, Gustavo
Allegri, Ricardo Francisco
Russo, G. N.
Resumen
We present a female patient aged 51 who developed behavioral disorders followed by cognitive impairment over 3 years. Neuropsychological, neuropsychiatric, and radiological features suggested a probable behavioral variant of frontotemporal dementia (bvFTD). A family history of amyotrophic lateral sclerosis and parkinsonism suggested the hexanucleotide repeat expansion G4C2 in C9ORF72 . We set up a two-step genotyping algorithm for the detection of the expansion using fragment-length analysis polymerase chain reaction (PCR) and repeat-primed PCR with fluorescent primers. We confirmed the presence of an expanded G4C2 allele in the patient. This represents the first documented case of bvFTD due to a C9ORF72 expansion in Argentina.