Screening for the C9ORF72 repeat expansion in a greek frontotemporal dementia cohort.
Title | Screening for the C9ORF72 repeat expansion in a greek frontotemporal dementia cohort. |
Publication Type | Journal Article |
Year of Publication | 2018 |
Authors | Kartanou, C., Karadima G., Koutsis G., Breza M., Papageorgiou S. G., Paraskevas G. P., Kapaki E., & Panas M. |
Journal | Amyotroph Lateral Scler Frontotemporal Degener |
Volume | 19 |
Issue | 1-2 |
Pagination | 152-154 |
Date Published | 2018 02 |
ISSN | 2167-9223 |
Keywords | Aged, Amyotrophic Lateral Sclerosis, C9orf72 Protein, Cohort Studies, DNA Repeat Expansion, Female, Frontotemporal Dementia, Genetic Predisposition to Disease, Greece, Humans, Male, Middle Aged |
Abstract | The C9orf72 repeat expansion is a common genetic cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) in European populations. A previous study has reported a high frequency of the expansion in Greek ALS. However, no data have been reported on the frequency of the expansion in Greek FTD. Currently, we investigated the frequency of the C9orfF72 expansion in a well-characterized cohort of 64 Greek FTD patients. We detected the C9orf72 repeat expansion in 9.3% of cases. Overall, 27.7% of familial and 2.2% of sporadic cases were expansion-positive. Five out of 6 cases had a diagnosis of behavioral variant FTD. All expansion-positive cases had fairly typical FTD presentations. Clinical features included motor neuron disease, Parkinsonism and hallucinations. We conclude that the overall frequency of C9orf72-positive cases in Greek FTD is high, comparable to Greek ALS, similar to some Western European, but significantly higher than some Mediterranean FTD populations. |
DOI | 10.1080/21678421.2017.1400070 |
Alternate Journal | Amyotroph Lateral Scler Frontotemporal Degener |
PubMed ID | 29166782 |