C9ORF72 G4C2-repeat expansion and frontotemporal dementia first reported case in Argentina.
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.
a Neurology and Neurosurgery Unit , Swiss Medical, Sanatorio de los Arcos , Buenos Aires , Argentina.
M
M
Fernández Suarez
b Neuropathology and Molecular Biology Department , Instituto de Investigaciones Neurológica "Raúl Carrea" (FLENI) , Buenos Aires , Argentina.|c Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET) , Argentina.
Ezequiel
E
Surace
c Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET) , Argentina.|d Cognitive and Neuropsychology Unit , Instituto de Investigaciones Neurológica "Raúl Carrea" (FLENI) , Buenos Aires , Argentina.
P
P
Harris
c Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET) , Argentina.|d Cognitive and Neuropsychology Unit , Instituto de Investigaciones Neurológica "Raúl Carrea" (FLENI) , Buenos Aires , Argentina.
F
F
Tapajoz
b Neuropathology and Molecular Biology Department , Instituto de Investigaciones Neurológica "Raúl Carrea" (FLENI) , Buenos Aires , Argentina.
G
G
Sevlever
c Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET) , Argentina.|d Cognitive and Neuropsychology Unit , Instituto de Investigaciones Neurológica "Raúl Carrea" (FLENI) , Buenos Aires , Argentina.
R
R
Allegri
a Neurology and Neurosurgery Unit , Swiss Medical, Sanatorio de los Arcos , Buenos Aires , Argentina.
G N
GN
Russo
D001118:Argentina; D000073885:C9orf72 Protein / Q000235:genetics*; D042622:DNA Repeat Expansion; D005260:Female; D057180:Frontotemporal Dementia / Q000235:genetics*; D006801:Humans; D008875:Middle Aged
D000073885:C9orf72 Protein; C568651:C9orf72 protein, human
C9ORF72; Frontotemporal dementia; amyotrophic lateral sclerosis; motoneuron disease