C9ORF72 G₄C₂-repeat expansion and frontotemporal dementia first reported case in Argentina

ABSTRACT

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.

KEYWORDS:

• Frontotemporal dementia
• motoneuron disease
• amyotrophic lateral sclerosis
• C9ORF72

Disclosure statement

The authors declare that there are no conflicts of interest.