Unit:
Faculty of MedicineLibrary of the School of Health Sciences
Author:
Kontogeorgiou Zoi
Dissertation committee:
Γεωργία Καραδήμα, Αναπληρώτρια Καθηγήτρια , Ιατρική Σχολή, ΕΚΠΑ
Γεώργιος Κούτσης, Αναπληρωτής Καθηγητής, Ιατρική Σχολή, ΕΚΠΑ
Λεωνίδας Στεφανής, Καθηγητής ,Ιατρική Σχολή, ΕΚΠΑ
Παναγούλα Κόλλια, Καθηγήτρια, Τμήμα Βιολογίας, ΕΚΠΑ
Κυπρούλα Χριστοδούλου, Καθηγήτρια, ΙΝΓΚ
Μιχάλης Ρέντζος, Αναπληρωτής Καθηγητής, Ιατρική Σχολή, ΕΚΠΑ
Παναγιώτης Κοκότης, Αναπληρωτής Καθηγητής, Ιατρική Σχολή, ΕΚΠΑ
Original Title:
Μελέτη σπανίων μορφών της νόσου των Charcot-Marie-Tooth στον ελληνικό πληθυσμό
Translated title:
Study of rare types of Charcot-Marie-Tooth disease in greek population
Summary:
The following thesis aimed to complete the study of rare hereditary neuropathies in the Greek population and contained separate projects in order to cover the wider range possible of these disorders. In total, the work developed in 5 levels which are summarized as follows. The x-linked form of CMT (CMTX) as a result of variants in regulatory regions of the responsible gene was studied; 54 index patients were screened, none of which showed a variant in the examined region. Subsequently, the reported most frequent residual form of the disease, CMT4C was studied, 50 index patients were selected and tested for SH3TC2 gene variants, of which 13 presented variants in the examined region. The autosomal recessive form of the disease with neuromyotonia ,ARAN-NM, was studied, 42 index patients were selected and screened for HINT1 gene variants; 4 showed variants in the examined region. At the same time, the CANVAS syndrome was studied where 77 index patients were selected and screened for the pathogenic expansion in the RFC1 gene; 5 showed homozygous pathogenic expansion in the examined region. Finally, the axonal types CMT (CMT2) were studied. Sixty index patients were selected and screened for variants in 25 disease-related genes of which 20 presented variants located in 8 of the genes examined. In conclusion, the completion of the present study seems to have succeeded in completing the genetic picture of Greek patients with CMT. At the same time installing state-of-the-art technologies in the Laboratory of the Neurogenetic Unit of the 1st Neurological Department ,NKUA and increasing the capability for accurate and in-time diagnosis and genetic counseling.
Main subject category:
Health Sciences
Keywords:
CMT, CMTX, CMT4C, ARAN-NM, CMT2, CANVAS
Number of references:
254
