Unit:
Faculty of MedicineLibrary of the School of Health Sciences
Author:
Kartanou Chrisoula
Dissertation committee:
Γεωργία Καραδήμα, Επίκουρη Καθηγήτρια, Ιατρική Σχολή, ΕΚΠΑ
Λεωνίδας Στεφανής, Καθηγητής, Ιατρική Σχολή, ΕΚΠΑ
Γεώργιος Κούτσης, Επίκουρος Καθηγητής, Ιατρική Σχολή, ΕΚΠΑ
Ελισσάβετ Καπάκη, Καθηγήτρια, Ιατρική Σχολή, ΕΚΠΑ
Παναγούλα Κόλλια, Καθηγήτρια, Τμήμα Βιολογίας, ΕΚΠΑ
Κωνσταντίνος Πόταγας, Αναπληρωτής Καθηγητής, Ιατρική Σχολή, ΕΚΠΑ
Μιχαήλ Ρέντζος, Αναπληρωτής Καθηγητής, Ιατρική Σχολή, ΕΚΠΑ
Original Title:
Μελέτη του γονιδίου C9ORF72 σε Έλληνες ασθενείς με νευροεκφυλιστικά νοσήματα
Translated title:
Study of the C9ORF72 repeat expansion in Greek patients with neurodegenerative disorders
Summary:
The C9ORF72 hexanucleotide repeat expansion is an established cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) and has also been associated with Huntington disease (HD)-like syndromes and rarely with Parkinson’s disease (PD) and Alzheimer’s disease (AD). In the present study we aimed to investigate the genotypic and phenotypic profile of C9ORF72-related disorders in Greece. For this reason, 957 patients (467 with ALS, 53 with HD-like syndromes, 247 with dementia, 175 with PD and 15 with hereditary spastic paraplegia, HSP) and 93 controls were tested for the C9ORF72 repeat expansion. Forty-nine patients with ALS (10.5%), 2 with HD-like syndromes (3.8%), 13 with FTD (11.5%), 1 with AD (1.6%), and 2 with PD (1.1 %) were expansion-positive. The results of this study provide an update on the spectrum of C9ORF72-related neurodegenerative diseases, emphasizing the importance of C9ORF72 genetic testing in Greek patients with familial and sporadic ALS and/or FTD and HD-like syndromes.
Main subject category:
Health Sciences
Keywords:
C9ORF72 repeat expansion, amyotrophic lateral sclerosis, frontotemporal dementia, Parkinson's disease, HD-like syndromes, Greek population, C9ORF72-related disorders
Number of references:
247
