Μονάδα:
Τμήμα ΙατρικήςΒιβλιοθήκη Επιστημών Υγείας
Ημερομηνία κατάθεσης:
2022-08-24
Συγγραφέας:
Μπρέζα Μαριάνθη
Στοιχεία επταμελούς επιτροπής:
Κούτσης Γεώργιος, Επίκουρος Καθηγητής, Ιατρική Σχολή, ΕΚΠΑ
Καραδήμα Γεωργία, Επίκουρη Καθηγήτρια, Ιατρική Σχολή, ΕΚΠΑ
Στεφανής Λεωνίδας, Διευθυντής Καθηγητής, ΕΚΠΑ, Ιατρική Σχολή, ΕΚΠΑ
Ζαλώνης Ιωάννης, Αναπληρωτής Καθηγητής, ΕΚΠΑ, Ιατρική Σχολή, ΕΚΠΑ
Βελονάκης Εμμανουήλ, Επίκουρος Καθηγητής, ΕΚΠΑ, Ιατρική Σχολή, ΕΚΠΑ
Εμμανουηλίδου Ευαγγελία, Επίκουρη Καθηγήτρια, Τμήμα Χημείας, ΕΚΠΑ
Βεκρέλλης Κωνσταντίνος, Ερευνητής Α, ΙΒΕΑΑ
Πρωτότυπος Τίτλος:
Βιολογικοί και απεικονιστικοί βιοδείκτες στη νόσο Huntington
Γλώσσες διατριβής:
Αγγλικά
Μεταφρασμένος τίτλος:
Βιολογικοί και απεικονιστικοί βιοδείκτες στη νόσο Huntington
Περίληψη:
Huntington’s Disease (HD) is a devastating, neurodegenerative disease with no cure available to date. Several clinical trials have failed and robust biomarkers are needed towards better study design. In this thesis, clinical, cognitive, imaging and biofluid (serum NfL and alpha-synuclein) known and potential markers were analyzed using a tailored framework, to characterize patients with manifest HD as well as pre-manifest HD, in comparison to controls.
All biomarker data were compared between manifest and pre-manifest HD, as well as matched controls. Furthermore, data from clinical scales, such as the Unified Huntington Disease Rating Scale), neuropsychiatric scales, and an extensive neuropsychological battery were correlated to baseline neuroimaging findings (using whole-brain and region of interest analysis) and other biomarker data. Summarizing the most important findings, neuromelanin-MRI values, (a novel MRI sequence), were correlated in HD for the first time with finger-tapping, apathy scale and HD-QoL. In addition, a pilot study with measurements of serum a-synuclein levels in HD was conducted showing elevated levels in manifest HD patients.
As an adjunct, genetic data from a recent GWAS in collaboration with UCL were used in parallel with other available DNA & RNA open databases to run computational analyses, with a view to provide further insight on the SNCA pathway and other specific pathways implicated in the pathophysiology of HD.
In conclusion, the present thesis adds to the ongoing quest for biomarkers in HD hoping to lead to a better understanding of the disease as well as the prodromal phase of the disease, where upcoming treatments could be more efficient.
Κύρια θεματική κατηγορία:
Επιστήμες Υγείας
Λέξεις-κλειδιά:
Νόσος Huntington, Βιοδείκτες, Νευρογενετική
Αρ. σελίδων ευρετηρίου:
0
Αρ. βιβλιογραφικών αναφορών:
118
