Back to Search
Start Over
C9ORF72 G4C2-repeat expansion and frontotemporal dementia first reported case in Argentina.
- Source :
-
Neurocase [Neurocase] 2016 Jun; Vol. 22 (3), pp. 281-4. Date of Electronic Publication: 2016 Jun 21. - Publication Year :
- 2016
-
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.
Details
- Language :
- English
- ISSN :
- 1465-3656
- Volume :
- 22
- Issue :
- 3
- Database :
- MEDLINE
- Journal :
- Neurocase
- Publication Type :
- Academic Journal
- Accession number :
- 27327087
- Full Text :
- https://doi.org/10.1080/13554794.2016.1186700